Incidental Mutation 'FR4304:Ankhd1'
ID |
511074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankhd1
|
Ensembl Gene |
ENSMUSG00000024483 |
Gene Name |
ankyrin repeat and KH domain containing 1 |
Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
FR4304 ()
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
Type of Mutation |
small insertion (2 aa in frame mutation) |
DNA Base Change (assembly) |
GGCGGC to GGCGGCTGCGGC
at 36693977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
AlphaFold |
E9PUR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006205
|
SMART Domains |
Protein: ENSMUSP00000006205 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134146
|
SMART Domains |
Protein: ENSMUSP00000122136 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
35 |
N/A |
INTRINSIC |
ANK
|
140 |
169 |
2.11e2 |
SMART |
ANK
|
173 |
202 |
3.31e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142977
|
SMART Domains |
Protein: ENSMUSP00000120290 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155329
|
SMART Domains |
Protein: ENSMUSP00000123270 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2342 |
2362 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 137 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
CTT |
CTTTTT |
12: 110,634,883 (GRCm39) |
|
probably benign |
Homo |
1700001K19Rik |
TTC |
TTCGTC |
12: 110,634,884 (GRCm39) |
|
probably benign |
Homo |
4930433I11Rik |
ACCTC |
AC |
7: 40,642,480 (GRCm39) |
|
probably benign |
Het |
4930447C04Rik |
AAGT |
A |
12: 72,928,061 (GRCm39) |
|
probably benign |
Homo |
Acbd4 |
CAG |
CAGACTAG |
11: 102,994,931 (GRCm39) |
|
probably null |
Homo |
Ahdc1 |
CT |
CTCTT |
4: 132,790,070 (GRCm39) |
|
probably benign |
Homo |
Alpk3 |
TCT |
TCTGCT |
7: 80,727,510 (GRCm39) |
|
probably benign |
Het |
Anapc4 |
C |
T |
5: 53,021,868 (GRCm39) |
T650M |
probably damaging |
Homo |
Ankrd35 |
TAGC |
TAGCAGC |
3: 96,591,163 (GRCm39) |
|
probably benign |
Homo |
Apc |
GCCAATAAA |
GCCAATAAAACCAATAAA |
18: 34,415,050 (GRCm39) |
|
probably benign |
Het |
Apol6 |
TTGT |
TTGTCTGT |
15: 76,935,636 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
TGGCCC |
TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC |
1: 171,232,736 (GRCm39) |
|
probably benign |
Het |
Arpc1b |
GCC |
GCCTGTCC |
5: 145,063,601 (GRCm39) |
|
probably null |
Het |
Blm |
CT |
CTACGT |
7: 80,113,521 (GRCm39) |
|
probably null |
Homo |
Blm |
TCCTCCTCCTCC |
TCCTCCTCCTCCACCTCCTCCTCC |
7: 80,162,667 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
GA |
GAATA |
11: 58,814,756 (GRCm39) |
|
probably benign |
Homo |
Cacna1f |
AGG |
AGGCGG |
X: 7,486,300 (GRCm39) |
|
probably benign |
Het |
Calhm3 |
CG |
CGG |
19: 47,140,335 (GRCm39) |
|
probably null |
Homo |
Catsper2 |
C |
CTTTTACTTTTTA |
2: 121,228,023 (GRCm39) |
|
probably null |
Homo |
Catsper2 |
CAT |
CATTAT |
2: 121,228,263 (GRCm39) |
|
probably benign |
Het |
Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Homo |
Ccdc15 |
AC |
ACTTTCC |
9: 37,226,453 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,432,117 (GRCm39) |
D1792G |
possibly damaging |
Het |
Ccdc170 |
CCA |
CCATCA |
10: 4,511,021 (GRCm39) |
|
probably benign |
Het |
Ccdc73 |
TAAG |
T |
2: 104,822,185 (GRCm39) |
|
probably benign |
Homo |
Ccdc85c |
GCC |
GCCCCC |
12: 108,240,871 (GRCm39) |
|
probably benign |
Het |
Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Het |
Cd80 |
AGA |
AGAGGA |
16: 38,306,677 (GRCm39) |
|
probably benign |
Homo |
Cep89 |
GACT |
G |
7: 35,109,066 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,500,217 (GRCm39) |
D21G |
possibly damaging |
Homo |
Cgref1 |
T |
TCTA |
5: 31,091,124 (GRCm39) |
|
probably benign |
Homo |
Chd4 |
GCC |
GCCACTCCC |
6: 125,099,107 (GRCm39) |
|
probably benign |
Het |
Cnpy3 |
TCC |
TCCCCC |
17: 47,047,669 (GRCm39) |
|
probably benign |
Het |
Cnpy3 |
TCC |
TCCACC |
17: 47,047,672 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,407 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
CCCCAG |
CCCCAGACCCAG |
11: 101,080,415 (GRCm39) |
|
probably benign |
Het |
Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Homo |
Cpeb4 |
T |
TGA |
11: 31,877,638 (GRCm39) |
|
probably benign |
Homo |
Cpne1 |
AGA |
AGAGAGA |
2: 155,913,945 (GRCm39) |
|
probably null |
Homo |
Cttnbp2 |
ATTGCTG |
ATTGCTGTTGCTG |
6: 18,367,457 (GRCm39) |
|
probably benign |
Het |
Dhx37 |
CTGG |
C |
5: 125,504,594 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
CGAGAC |
CGAGACGGAGAC |
11: 101,629,014 (GRCm39) |
|
probably benign |
Homo |
Dnaaf9 |
TCC |
TCCCCC |
2: 130,612,668 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
Dst |
C |
A |
1: 34,240,045 (GRCm39) |
S1798Y |
probably damaging |
Het |
Eif3a |
TA |
TATTTCA |
19: 60,763,728 (GRCm39) |
|
probably benign |
Homo |
Ermn |
TTC |
TTCCTC |
2: 57,938,090 (GRCm39) |
|
probably benign |
Het |
Ermn |
CTT |
CTTGTT |
2: 57,938,098 (GRCm39) |
|
probably benign |
Het |
Fbxo43 |
TGTGCC |
TGTGCCAGTGCC |
15: 36,152,243 (GRCm39) |
|
probably benign |
Het |
Fbxo43 |
GCCTGT |
GCCTGTCCCTGT |
15: 36,152,246 (GRCm39) |
|
probably benign |
Het |
Fbxo43 |
GCCTGT |
GCCTGTTCCTGT |
15: 36,152,240 (GRCm39) |
|
probably benign |
Het |
Fmn1 |
TCC |
TCCTCCACC |
2: 113,356,128 (GRCm39) |
|
probably benign |
Homo |
Fmn1 |
TCCTCC |
TCCTCCCCCTCC |
2: 113,356,119 (GRCm39) |
|
probably benign |
Het |
Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Homo |
Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
Gabre |
ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
X: 71,313,648 (GRCm39) |
|
probably benign |
Homo |
Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
Gm4340 |
CAG |
CAGAAG |
10: 104,031,933 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,943 (GRCm39) |
|
probably benign |
Het |
Gm5114 |
T |
C |
7: 39,060,529 (GRCm39) |
R107G |
probably benign |
Het |
Gm5114 |
A |
C |
7: 39,060,530 (GRCm39) |
H106Q |
probably benign |
Het |
H1f6 |
GAGAA |
GA |
13: 23,879,903 (GRCm39) |
|
probably benign |
Homo |
H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
H2-T10 |
TGTTTCCCACTG |
T |
17: 36,431,173 (GRCm39) |
|
probably null |
Het |
Ifi203 |
C |
T |
1: 173,755,894 (GRCm39) |
|
probably benign |
Het |
Ifi208 |
ATGGTG |
ATG |
1: 173,505,264 (GRCm39) |
|
probably benign |
Homo |
Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
Il17rd |
CGG |
CGGTGG |
14: 26,804,637 (GRCm39) |
|
probably benign |
Het |
Il2 |
AGTGG |
AGTGGGGCTTGAGGTGG |
3: 37,179,975 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
TCC |
TCCGCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
CCT |
CCTACT |
1: 135,314,017 (GRCm39) |
|
probably null |
Het |
Isg20l2 |
AAG |
AAGCAG |
3: 87,839,019 (GRCm39) |
|
probably benign |
Homo |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,788 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TGCTGCTG |
TGCTGCTGCTGCTG |
5: 25,520,764 (GRCm39) |
|
probably benign |
Homo |
Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CCTCCT |
CCTCCTACTCCT |
11: 99,280,100 (GRCm39) |
|
probably benign |
Het |
Las1l |
GAG |
GAGCAG |
X: 94,984,426 (GRCm39) |
|
probably benign |
Het |
Las1l |
AGG |
AGGCGG |
X: 94,984,427 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
A |
T |
14: 75,057,005 (GRCm39) |
C241S |
possibly damaging |
Het |
Lrit3 |
G |
GCTT |
3: 129,582,468 (GRCm39) |
|
probably benign |
Het |
Maml2 |
GCAGCAGCAACAGCAGCA |
GCAGCAGCA |
9: 13,532,755 (GRCm39) |
|
probably benign |
Homo |
Mast4 |
T |
TTTC |
13: 102,871,370 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCGGC |
3: 59,183,403 (GRCm39) |
|
probably benign |
Het |
Muc21 |
T |
G |
17: 35,933,013 (GRCm39) |
|
probably benign |
Homo |
Noc2l |
TGC |
TGCAGC |
4: 156,324,553 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
G |
GACATTT |
14: 38,119,230 (GRCm39) |
|
probably benign |
Homo |
Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Homo |
Patl2 |
GCT |
GCTTCT |
2: 121,956,616 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Homo |
Pik3c2g |
AG |
AGAGGG |
6: 139,612,654 (GRCm39) |
|
probably null |
Homo |
Plekhs1 |
T |
TTCAGACCTCCCC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
Prkd3 |
G |
T |
17: 79,283,249 (GRCm39) |
|
probably null |
Homo |
Prkn |
G |
A |
17: 12,073,650 (GRCm39) |
V323M |
probably damaging |
Het |
Prr13 |
TCC |
TCCCCC |
15: 102,370,612 (GRCm39) |
|
probably benign |
Homo |
Prrc2b |
G |
A |
2: 32,111,179 (GRCm39) |
A1852T |
probably damaging |
Homo |
Ptms |
CTT |
CTTTTT |
6: 124,891,421 (GRCm39) |
|
probably benign |
Homo |
Rtl1 |
TTCCTCTTCCTCCTC |
TTCCTC |
12: 109,557,632 (GRCm39) |
|
probably benign |
Homo |
Scaf4 |
TGCGGC |
TGC |
16: 90,026,742 (GRCm39) |
|
probably benign |
Homo |
Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
Sry |
GTG |
GTGCTG |
Y: 2,662,837 (GRCm39) |
|
probably benign |
Homo |
Stard8 |
GGAAGA |
GGAAGAAGA |
X: 98,110,111 (GRCm39) |
|
probably benign |
Het |
Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
Supt20 |
CAGCAG |
CAGCAGTAGCAG |
3: 54,635,085 (GRCm39) |
|
probably null |
Het |
Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
CTCT |
C |
4: 132,984,304 (GRCm39) |
|
probably benign |
Homo |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,814 (GRCm39) |
|
probably benign |
Het |
Tdpoz2 |
T |
TCA |
3: 93,558,922 (GRCm39) |
|
probably null |
Homo |
Tert |
GCC |
GCCAAGGGTTCC |
13: 73,796,421 (GRCm39) |
|
probably benign |
Homo |
Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
Ticrr |
ATT |
ATTTTT |
7: 79,344,059 (GRCm39) |
|
probably benign |
Homo |
Tnfaip8 |
ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,906 (GRCm39) |
|
probably null |
Homo |
Tnfrsf9 |
T |
TGCC |
4: 151,018,852 (GRCm39) |
|
probably benign |
Homo |
Tob1 |
GCA |
GCAACA |
11: 94,105,290 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CA |
CAGTA |
11: 94,105,303 (GRCm39) |
|
probably null |
Het |
Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Homo |
Triobp |
TCGTCG |
TCGTCGTCG |
15: 78,877,587 (GRCm39) |
|
probably benign |
Homo |
Tsbp1 |
A |
AGCC |
17: 34,679,029 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
GC |
GCATC |
17: 34,679,051 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
AGG |
AGGGGG |
6: 115,537,030 (GRCm39) |
|
probably benign |
Het |
Ubtf |
TCC |
TCCGCC |
11: 102,197,782 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CTCGTCGTC |
CTCGTCGTCGTC |
11: 102,197,784 (GRCm39) |
|
probably benign |
Het |
Vars1 |
TGG |
TGGAGTCCTGGGCGG |
17: 35,234,965 (GRCm39) |
|
probably benign |
Homo |
Vmn1r171 |
C |
T |
7: 23,332,105 (GRCm39) |
A110V |
probably benign |
Het |
Vmn2r31 |
G |
T |
7: 7,387,607 (GRCm39) |
Q655K |
probably damaging |
Het |
Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
Zc3h13 |
CG |
CGAGATGTGTG |
14: 75,561,050 (GRCm39) |
|
probably benign |
Het |
Zc3h13 |
AGATGTGCG |
AGATGTGCGGGATGTGCG |
14: 75,561,043 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
GGC |
GGCCGC |
6: 47,881,731 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
AGGC |
AGGCCCAGGCCCCGGC |
6: 125,013,456 (GRCm39) |
|
probably benign |
Het |
Zfp459 |
TGA |
TGAGCGA |
13: 67,556,393 (GRCm39) |
|
probably null |
Homo |
Zfp462 |
GCCACC |
GCCACCTCAGCCACAACCACC |
4: 55,009,757 (GRCm39) |
|
probably benign |
Het |
Zfp462 |
CCACC |
CCACCTCAGCCACAGTCACC |
4: 55,009,758 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
CACCAC |
CACCACAACCAC |
17: 24,899,749 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
CCT |
CCTGCT |
2: 174,487,274 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ankhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ankhd1
|
APN |
18 |
36,798,512 (GRCm39) |
unclassified |
probably benign |
|
IGL00927:Ankhd1
|
APN |
18 |
36,765,125 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01367:Ankhd1
|
APN |
18 |
36,711,696 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01624:Ankhd1
|
APN |
18 |
36,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Ankhd1
|
APN |
18 |
36,781,206 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01767:Ankhd1
|
APN |
18 |
36,781,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02005:Ankhd1
|
APN |
18 |
36,781,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Ankhd1
|
APN |
18 |
36,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02246:Ankhd1
|
APN |
18 |
36,789,779 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Ankhd1
|
APN |
18 |
36,727,867 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02628:Ankhd1
|
APN |
18 |
36,780,756 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Ankhd1
|
APN |
18 |
36,711,828 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02735:Ankhd1
|
APN |
18 |
36,781,599 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02877:Ankhd1
|
APN |
18 |
36,727,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Ankhd1
|
APN |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
IGL03163:Ankhd1
|
APN |
18 |
36,780,681 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03182:Ankhd1
|
APN |
18 |
36,711,827 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03184:Ankhd1
|
APN |
18 |
36,780,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Ankhd1
|
APN |
18 |
36,789,890 (GRCm39) |
splice site |
probably benign |
|
R0051:Ankhd1
|
UTSW |
18 |
36,780,241 (GRCm39) |
unclassified |
probably benign |
|
R0089:Ankhd1
|
UTSW |
18 |
36,773,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Ankhd1
|
UTSW |
18 |
36,779,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Ankhd1
|
UTSW |
18 |
36,767,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Ankhd1
|
UTSW |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
R0361:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0418:Ankhd1
|
UTSW |
18 |
36,767,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0540:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Ankhd1
|
UTSW |
18 |
36,778,302 (GRCm39) |
splice site |
probably benign |
|
R1127:Ankhd1
|
UTSW |
18 |
36,767,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Ankhd1
|
UTSW |
18 |
36,758,212 (GRCm39) |
missense |
probably benign |
0.09 |
R1742:Ankhd1
|
UTSW |
18 |
36,758,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ankhd1
|
UTSW |
18 |
36,780,361 (GRCm39) |
missense |
probably benign |
0.17 |
R1856:Ankhd1
|
UTSW |
18 |
36,777,580 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Ankhd1
|
UTSW |
18 |
36,781,083 (GRCm39) |
missense |
probably benign |
0.08 |
R2044:Ankhd1
|
UTSW |
18 |
36,778,166 (GRCm39) |
missense |
probably benign |
0.31 |
R2112:Ankhd1
|
UTSW |
18 |
36,774,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ankhd1
|
UTSW |
18 |
36,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Ankhd1
|
UTSW |
18 |
36,780,674 (GRCm39) |
missense |
probably benign |
|
R2196:Ankhd1
|
UTSW |
18 |
36,781,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Ankhd1
|
UTSW |
18 |
36,777,386 (GRCm39) |
missense |
probably benign |
0.31 |
R2305:Ankhd1
|
UTSW |
18 |
36,775,979 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2309:Ankhd1
|
UTSW |
18 |
36,757,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Ankhd1
|
UTSW |
18 |
36,711,596 (GRCm39) |
splice site |
probably null |
|
R2958:Ankhd1
|
UTSW |
18 |
36,767,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R3980:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R4159:Ankhd1
|
UTSW |
18 |
36,722,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4199:Ankhd1
|
UTSW |
18 |
36,794,101 (GRCm39) |
unclassified |
probably benign |
|
R4323:Ankhd1
|
UTSW |
18 |
36,711,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Ankhd1
|
UTSW |
18 |
36,776,096 (GRCm39) |
nonsense |
probably null |
|
R4496:Ankhd1
|
UTSW |
18 |
36,693,839 (GRCm39) |
missense |
probably damaging |
0.98 |
R4551:Ankhd1
|
UTSW |
18 |
36,788,560 (GRCm39) |
splice site |
probably null |
|
R4590:Ankhd1
|
UTSW |
18 |
36,716,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ankhd1
|
UTSW |
18 |
36,781,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4889:Ankhd1
|
UTSW |
18 |
36,711,787 (GRCm39) |
missense |
probably null |
0.00 |
R4923:Ankhd1
|
UTSW |
18 |
36,722,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Ankhd1
|
UTSW |
18 |
36,758,080 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5254:Ankhd1
|
UTSW |
18 |
36,789,768 (GRCm39) |
missense |
probably benign |
0.05 |
R5314:Ankhd1
|
UTSW |
18 |
36,694,111 (GRCm39) |
splice site |
probably null |
|
R5336:Ankhd1
|
UTSW |
18 |
36,779,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5367:Ankhd1
|
UTSW |
18 |
36,722,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Ankhd1
|
UTSW |
18 |
36,767,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Ankhd1
|
UTSW |
18 |
36,781,538 (GRCm39) |
missense |
probably benign |
0.01 |
R5599:Ankhd1
|
UTSW |
18 |
36,693,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5659:Ankhd1
|
UTSW |
18 |
36,694,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Ankhd1
|
UTSW |
18 |
36,757,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5874:Ankhd1
|
UTSW |
18 |
36,773,322 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5894:Ankhd1
|
UTSW |
18 |
36,780,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Ankhd1
|
UTSW |
18 |
36,733,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Ankhd1
|
UTSW |
18 |
36,758,179 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6190:Ankhd1
|
UTSW |
18 |
36,744,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6247:Ankhd1
|
UTSW |
18 |
36,787,199 (GRCm39) |
missense |
probably benign |
0.00 |
R6512:Ankhd1
|
UTSW |
18 |
36,724,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6653:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6763:Ankhd1
|
UTSW |
18 |
36,776,022 (GRCm39) |
missense |
probably benign |
0.31 |
R6976:Ankhd1
|
UTSW |
18 |
36,781,307 (GRCm39) |
missense |
probably benign |
0.00 |
R7075:Ankhd1
|
UTSW |
18 |
36,693,042 (GRCm39) |
missense |
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,758,081 (GRCm39) |
missense |
probably benign |
|
R7305:Ankhd1
|
UTSW |
18 |
36,765,258 (GRCm39) |
missense |
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,789,826 (GRCm39) |
missense |
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,727,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Ankhd1
|
UTSW |
18 |
36,758,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Ankhd1
|
UTSW |
18 |
36,780,881 (GRCm39) |
missense |
probably benign |
0.00 |
R7965:Ankhd1
|
UTSW |
18 |
36,791,465 (GRCm39) |
missense |
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,781,772 (GRCm39) |
missense |
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,771,676 (GRCm39) |
missense |
probably damaging |
0.98 |
R8123:Ankhd1
|
UTSW |
18 |
36,708,136 (GRCm39) |
missense |
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,787,230 (GRCm39) |
missense |
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,780,219 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8708:Ankhd1
|
UTSW |
18 |
36,727,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Ankhd1
|
UTSW |
18 |
36,757,633 (GRCm39) |
nonsense |
probably null |
|
R9138:Ankhd1
|
UTSW |
18 |
36,693,961 (GRCm39) |
small deletion |
probably benign |
|
R9139:Ankhd1
|
UTSW |
18 |
36,711,810 (GRCm39) |
missense |
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,767,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9245:Ankhd1
|
UTSW |
18 |
36,788,653 (GRCm39) |
missense |
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9262:Ankhd1
|
UTSW |
18 |
36,765,799 (GRCm39) |
missense |
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9436:Ankhd1
|
UTSW |
18 |
36,774,654 (GRCm39) |
missense |
probably benign |
0.04 |
R9436:Ankhd1
|
UTSW |
18 |
36,694,041 (GRCm39) |
missense |
probably benign |
0.39 |
R9541:Ankhd1
|
UTSW |
18 |
36,757,697 (GRCm39) |
missense |
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,798,504 (GRCm39) |
missense |
probably benign |
0.06 |
R9664:Ankhd1
|
UTSW |
18 |
36,780,878 (GRCm39) |
missense |
probably benign |
0.03 |
RF001:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF004:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF007:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF008:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF013:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF018:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF026:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,966 (GRCm39) |
small insertion |
probably benign |
|
RF039:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
RF043:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF046:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF049:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF054:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF057:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF060:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF061:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF062:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
X0027:Ankhd1
|
UTSW |
18 |
36,757,885 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Ankhd1
|
UTSW |
18 |
36,711,817 (GRCm39) |
nonsense |
probably null |
|
X0066:Ankhd1
|
UTSW |
18 |
36,779,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGAACCATGCTGACGGAC -3'
(R):5'- TGTCAGAGAACACTGCACC -3'
Sequencing Primer
(F):5'- CTGACGGACAGCGGGGG -3'
(R):5'- TGCGGGTCCAAAGAATTCC -3'
|
Posted On |
2018-04-05 |