Incidental Mutation 'R2153:Ankrd17'
ID |
234493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
040156-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2153 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90375025-90514436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90381918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 2416
(V2416D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014421
AA Change: V2417D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: V2417D
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1611 |
N/A |
INTRINSIC |
low complexity region
|
1616 |
1636 |
N/A |
INTRINSIC |
KH
|
1720 |
1790 |
8.31e-14 |
SMART |
low complexity region
|
1816 |
1827 |
N/A |
INTRINSIC |
low complexity region
|
1834 |
1850 |
N/A |
INTRINSIC |
low complexity region
|
1946 |
1989 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2024 |
N/A |
INTRINSIC |
low complexity region
|
2035 |
2052 |
N/A |
INTRINSIC |
low complexity region
|
2068 |
2077 |
N/A |
INTRINSIC |
low complexity region
|
2086 |
2110 |
N/A |
INTRINSIC |
low complexity region
|
2175 |
2189 |
N/A |
INTRINSIC |
low complexity region
|
2348 |
2365 |
N/A |
INTRINSIC |
low complexity region
|
2392 |
2411 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081914
AA Change: V2166D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: V2166D
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
ANK
|
827 |
856 |
2.13e-4 |
SMART |
ANK
|
860 |
889 |
8.19e-6 |
SMART |
ANK
|
894 |
923 |
1.68e-2 |
SMART |
ANK
|
927 |
956 |
1.61e-4 |
SMART |
ANK
|
962 |
991 |
1.43e-5 |
SMART |
ANK
|
996 |
1025 |
1.83e-3 |
SMART |
ANK
|
1029 |
1058 |
3.91e-3 |
SMART |
ANK
|
1064 |
1093 |
1.93e-2 |
SMART |
ANK
|
1097 |
1126 |
8.78e-6 |
SMART |
ANK
|
1130 |
1159 |
7.59e-1 |
SMART |
coiled coil region
|
1203 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1385 |
N/A |
INTRINSIC |
KH
|
1469 |
1539 |
8.31e-14 |
SMART |
low complexity region
|
1565 |
1576 |
N/A |
INTRINSIC |
low complexity region
|
1583 |
1599 |
N/A |
INTRINSIC |
low complexity region
|
1695 |
1738 |
N/A |
INTRINSIC |
low complexity region
|
1745 |
1773 |
N/A |
INTRINSIC |
low complexity region
|
1784 |
1801 |
N/A |
INTRINSIC |
low complexity region
|
1817 |
1826 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1859 |
N/A |
INTRINSIC |
low complexity region
|
1924 |
1938 |
N/A |
INTRINSIC |
low complexity region
|
2097 |
2114 |
N/A |
INTRINSIC |
low complexity region
|
2141 |
2160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168058
AA Change: V2416D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128960 Gene: ENSMUSG00000055204 AA Change: V2416D
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196919
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197021
AA Change: V2308D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: V2308D
Domain | Start | End | E-Value | Type |
ANK
|
120 |
149 |
5.4e-1 |
SMART |
ANK
|
153 |
182 |
2e-3 |
SMART |
ANK
|
187 |
216 |
2.2e-7 |
SMART |
ANK
|
220 |
249 |
8.2e-8 |
SMART |
ANK
|
253 |
282 |
2.2e-6 |
SMART |
ANK
|
287 |
316 |
2.1e-6 |
SMART |
ANK
|
320 |
349 |
9.9e-7 |
SMART |
ANK
|
353 |
382 |
9.5e-5 |
SMART |
ANK
|
386 |
415 |
2.4e-9 |
SMART |
ANK
|
420 |
449 |
2.6e-5 |
SMART |
ANK
|
450 |
479 |
1.1e-7 |
SMART |
ANK
|
483 |
512 |
2.2e-7 |
SMART |
ANK
|
516 |
545 |
3.5e-6 |
SMART |
ANK
|
550 |
579 |
7.9e-6 |
SMART |
ANK
|
583 |
612 |
8.9e-4 |
SMART |
coiled coil region
|
691 |
774 |
N/A |
INTRINSIC |
low complexity region
|
781 |
794 |
N/A |
INTRINSIC |
low complexity region
|
846 |
859 |
N/A |
INTRINSIC |
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
low complexity region
|
937 |
951 |
N/A |
INTRINSIC |
ANK
|
969 |
998 |
1.4e-6 |
SMART |
ANK
|
1002 |
1031 |
5.3e-8 |
SMART |
ANK
|
1036 |
1065 |
1e-4 |
SMART |
ANK
|
1069 |
1098 |
1e-6 |
SMART |
ANK
|
1104 |
1133 |
9.1e-8 |
SMART |
ANK
|
1138 |
1167 |
1.2e-5 |
SMART |
ANK
|
1171 |
1200 |
2.5e-5 |
SMART |
ANK
|
1206 |
1235 |
1.2e-4 |
SMART |
ANK
|
1239 |
1268 |
5.5e-8 |
SMART |
ANK
|
1272 |
1301 |
4.7e-3 |
SMART |
coiled coil region
|
1345 |
1413 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
low complexity region
|
1507 |
1527 |
N/A |
INTRINSIC |
KH
|
1611 |
1681 |
5.1e-16 |
SMART |
low complexity region
|
1707 |
1718 |
N/A |
INTRINSIC |
low complexity region
|
1725 |
1741 |
N/A |
INTRINSIC |
low complexity region
|
1837 |
1880 |
N/A |
INTRINSIC |
low complexity region
|
1887 |
1915 |
N/A |
INTRINSIC |
low complexity region
|
1926 |
1943 |
N/A |
INTRINSIC |
low complexity region
|
1959 |
1968 |
N/A |
INTRINSIC |
low complexity region
|
1977 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2066 |
2080 |
N/A |
INTRINSIC |
low complexity region
|
2239 |
2256 |
N/A |
INTRINSIC |
low complexity region
|
2283 |
2302 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197327
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity, and growth retardation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(133) : Targeted(4) Gene trapped(129)
|
Other mutations in this stock |
Total: 105 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
Abcg2 |
T |
A |
6: 58,661,307 (GRCm39) |
|
probably null |
Het |
Adgrg7 |
T |
G |
16: 56,572,791 (GRCm39) |
I342L |
possibly damaging |
Het |
Akap6 |
A |
C |
12: 53,188,187 (GRCm39) |
D1867A |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,883,952 (GRCm39) |
V670A |
probably damaging |
Het |
Art5 |
A |
G |
7: 101,747,407 (GRCm39) |
L124P |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 79,997,203 (GRCm39) |
D842E |
probably benign |
Het |
Brd10 |
T |
C |
19: 29,694,229 (GRCm39) |
M1755V |
probably benign |
Het |
Capns1 |
A |
G |
7: 29,891,765 (GRCm39) |
L124P |
probably damaging |
Het |
Carmil1 |
A |
G |
13: 24,325,656 (GRCm39) |
S225P |
probably damaging |
Het |
Cars2 |
C |
T |
8: 11,580,299 (GRCm39) |
A247T |
possibly damaging |
Het |
Cd46 |
A |
G |
1: 194,744,721 (GRCm39) |
I339T |
probably benign |
Het |
Ceacam14 |
C |
A |
7: 17,548,153 (GRCm39) |
T81N |
probably benign |
Het |
Ceacam16 |
G |
A |
7: 19,595,066 (GRCm39) |
P4L |
probably benign |
Het |
Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,362,666 (GRCm39) |
I340L |
possibly damaging |
Het |
Col2a1 |
C |
A |
15: 97,885,461 (GRCm39) |
A461S |
unknown |
Het |
Comtd1 |
T |
C |
14: 21,898,340 (GRCm39) |
E27G |
possibly damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,732,042 (GRCm39) |
N261S |
probably benign |
Het |
Dclk1 |
A |
G |
3: 55,154,633 (GRCm39) |
Y21C |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
Dlg5 |
A |
T |
14: 24,187,225 (GRCm39) |
I1819N |
probably damaging |
Het |
Elp1 |
T |
A |
4: 56,779,636 (GRCm39) |
|
probably null |
Het |
Enpep |
T |
C |
3: 129,074,231 (GRCm39) |
N772S |
probably damaging |
Het |
Erich1 |
T |
C |
8: 14,128,773 (GRCm39) |
T56A |
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,614,798 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,803,545 (GRCm39) |
E807G |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,037,544 (GRCm39) |
Y3732F |
probably damaging |
Het |
Fbxw18 |
T |
G |
9: 109,522,438 (GRCm39) |
T144P |
probably damaging |
Het |
Flywch1 |
A |
T |
17: 23,974,624 (GRCm39) |
I672K |
probably benign |
Het |
Foxk2 |
C |
A |
11: 121,151,213 (GRCm39) |
A86E |
probably benign |
Het |
Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
Gda |
A |
G |
19: 21,374,869 (GRCm39) |
|
probably null |
Het |
Gna15 |
T |
C |
10: 81,338,738 (GRCm39) |
Y367C |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,335,856 (GRCm39) |
|
probably null |
Het |
Greb1 |
T |
C |
12: 16,749,533 (GRCm39) |
S1098G |
probably damaging |
Het |
Hook3 |
C |
A |
8: 26,560,225 (GRCm39) |
L333F |
probably damaging |
Het |
Il6 |
C |
T |
5: 30,218,502 (GRCm39) |
Q33* |
probably null |
Het |
Iqgap1 |
T |
C |
7: 80,401,701 (GRCm39) |
E468G |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,409,651 (GRCm39) |
I228T |
possibly damaging |
Het |
Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
Kcnab1 |
A |
T |
3: 65,278,861 (GRCm39) |
I371F |
probably damaging |
Het |
Kcnj10 |
A |
T |
1: 172,197,455 (GRCm39) |
Y323F |
possibly damaging |
Het |
Klk1b5 |
T |
C |
7: 43,869,322 (GRCm39) |
|
probably null |
Het |
Lmo7 |
A |
G |
14: 102,157,951 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,443,862 (GRCm39) |
T277S |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,664,339 (GRCm39) |
M796K |
probably benign |
Het |
Med15 |
A |
T |
16: 17,503,315 (GRCm39) |
|
probably null |
Het |
Mfn1 |
T |
A |
3: 32,596,975 (GRCm39) |
H144Q |
probably damaging |
Het |
Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
Nmi |
T |
C |
2: 51,842,555 (GRCm39) |
E179G |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,554,944 (GRCm39) |
I1141T |
probably damaging |
Het |
Olah |
T |
C |
2: 3,366,306 (GRCm39) |
S9G |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,391 (GRCm39) |
D180G |
probably damaging |
Het |
Or4c106 |
C |
A |
2: 88,683,128 (GRCm39) |
P278H |
probably damaging |
Het |
Or5b120 |
T |
G |
19: 13,479,852 (GRCm39) |
I48M |
probably damaging |
Het |
Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
Or8k22 |
A |
C |
2: 86,162,872 (GRCm39) |
F276C |
probably damaging |
Het |
Otog |
T |
A |
7: 45,952,328 (GRCm39) |
C2591S |
probably damaging |
Het |
Pdgfrb |
G |
T |
18: 61,205,828 (GRCm39) |
V605F |
probably damaging |
Het |
Pik3cb |
T |
A |
9: 98,983,297 (GRCm39) |
K104* |
probably null |
Het |
Plb1 |
T |
A |
5: 32,471,433 (GRCm39) |
I580N |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
Plekha7 |
T |
A |
7: 115,775,002 (GRCm39) |
Y213F |
probably damaging |
Het |
Plin5 |
T |
C |
17: 56,423,836 (GRCm39) |
D33G |
probably benign |
Het |
Pnpla2 |
C |
A |
7: 141,039,132 (GRCm39) |
Q371K |
probably damaging |
Het |
Ppm1n |
A |
G |
7: 19,012,110 (GRCm39) |
Y348H |
probably damaging |
Het |
Ppp2r1b |
T |
A |
9: 50,777,854 (GRCm39) |
D266E |
probably damaging |
Het |
Prss23 |
A |
G |
7: 89,159,119 (GRCm39) |
S317P |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
Pum1 |
G |
T |
4: 130,478,802 (GRCm39) |
A571S |
probably damaging |
Het |
Rexo1 |
G |
T |
10: 80,379,943 (GRCm39) |
C13* |
probably null |
Het |
Rhpn1 |
A |
T |
15: 75,576,243 (GRCm39) |
M1L |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Rps6kc1 |
T |
C |
1: 190,530,920 (GRCm39) |
Y937C |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,796,118 (GRCm39) |
L1200P |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,592,759 (GRCm39) |
I4665T |
possibly damaging |
Het |
Sbno1 |
C |
A |
5: 124,516,606 (GRCm39) |
V1256F |
probably benign |
Het |
Senp5 |
T |
C |
16: 31,787,692 (GRCm39) |
I644V |
probably damaging |
Het |
Serpinb9e |
T |
A |
13: 33,436,961 (GRCm39) |
F94I |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,940,457 (GRCm39) |
H619Q |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
Sned1 |
T |
A |
1: 93,202,379 (GRCm39) |
D674E |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,895,788 (GRCm39) |
H1789R |
probably benign |
Het |
Sp2 |
T |
C |
11: 96,852,834 (GRCm39) |
D30G |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,940,527 (GRCm39) |
N61I |
probably benign |
Het |
Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,494,457 (GRCm39) |
Q1006R |
possibly damaging |
Het |
Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,398,763 (GRCm39) |
D623G |
probably damaging |
Het |
Trib2 |
A |
G |
12: 15,843,830 (GRCm39) |
F271L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,810,477 (GRCm39) |
V17A |
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,797,890 (GRCm39) |
C536S |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
Yeats2 |
T |
A |
16: 19,972,916 (GRCm39) |
D23E |
probably damaging |
Het |
Zan |
T |
A |
5: 137,434,662 (GRCm39) |
I2214F |
unknown |
Het |
Zbtb40 |
T |
C |
4: 136,718,946 (GRCm39) |
D917G |
probably damaging |
Het |
Zcchc2 |
C |
A |
1: 105,949,453 (GRCm39) |
|
probably null |
Het |
Zdhhc23 |
G |
T |
16: 43,794,282 (GRCm39) |
Q131K |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,578 (GRCm39) |
T320A |
probably benign |
Het |
Zfp532 |
A |
G |
18: 65,757,998 (GRCm39) |
T644A |
possibly damaging |
Het |
|
Other mutations in Ankrd17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Ankrd17
|
APN |
5 |
90,381,787 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00484:Ankrd17
|
APN |
5 |
90,416,220 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01320:Ankrd17
|
APN |
5 |
90,407,988 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01776:Ankrd17
|
APN |
5 |
90,431,223 (GRCm39) |
nonsense |
probably null |
|
IGL02093:Ankrd17
|
APN |
5 |
90,390,822 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02292:Ankrd17
|
APN |
5 |
90,400,718 (GRCm39) |
unclassified |
probably benign |
|
IGL02302:Ankrd17
|
APN |
5 |
90,431,057 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02472:Ankrd17
|
APN |
5 |
90,412,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Ankrd17
|
APN |
5 |
90,430,974 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02727:Ankrd17
|
APN |
5 |
90,392,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02884:Ankrd17
|
APN |
5 |
90,412,616 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Ankrd17
|
UTSW |
5 |
90,391,013 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT1430001:Ankrd17
|
UTSW |
5 |
90,400,832 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0025:Ankrd17
|
UTSW |
5 |
90,398,264 (GRCm39) |
missense |
probably damaging |
0.99 |
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0271:Ankrd17
|
UTSW |
5 |
90,402,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0684:Ankrd17
|
UTSW |
5 |
90,411,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R1239:Ankrd17
|
UTSW |
5 |
90,436,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R1457:Ankrd17
|
UTSW |
5 |
90,433,705 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1505:Ankrd17
|
UTSW |
5 |
90,447,885 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1766:Ankrd17
|
UTSW |
5 |
90,412,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1770:Ankrd17
|
UTSW |
5 |
90,391,235 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1780:Ankrd17
|
UTSW |
5 |
90,380,274 (GRCm39) |
missense |
probably damaging |
0.96 |
R1916:Ankrd17
|
UTSW |
5 |
90,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Ankrd17
|
UTSW |
5 |
90,392,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Ankrd17
|
UTSW |
5 |
90,445,905 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2279:Ankrd17
|
UTSW |
5 |
90,412,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Ankrd17
|
UTSW |
5 |
90,437,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3012:Ankrd17
|
UTSW |
5 |
90,378,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R3417:Ankrd17
|
UTSW |
5 |
90,391,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3704:Ankrd17
|
UTSW |
5 |
90,391,828 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4581:Ankrd17
|
UTSW |
5 |
90,430,979 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4850:Ankrd17
|
UTSW |
5 |
90,412,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Ankrd17
|
UTSW |
5 |
90,447,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Ankrd17
|
UTSW |
5 |
90,430,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Ankrd17
|
UTSW |
5 |
90,402,667 (GRCm39) |
missense |
probably damaging |
0.96 |
R5109:Ankrd17
|
UTSW |
5 |
90,391,395 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5111:Ankrd17
|
UTSW |
5 |
90,390,858 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5214:Ankrd17
|
UTSW |
5 |
90,431,319 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5362:Ankrd17
|
UTSW |
5 |
90,413,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Ankrd17
|
UTSW |
5 |
90,391,083 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Ankrd17
|
UTSW |
5 |
90,431,295 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5874:Ankrd17
|
UTSW |
5 |
90,416,656 (GRCm39) |
intron |
probably benign |
|
R5932:Ankrd17
|
UTSW |
5 |
90,413,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Ankrd17
|
UTSW |
5 |
90,433,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Ankrd17
|
UTSW |
5 |
90,487,531 (GRCm39) |
intron |
probably benign |
|
R6052:Ankrd17
|
UTSW |
5 |
90,401,691 (GRCm39) |
missense |
probably benign |
0.03 |
R6088:Ankrd17
|
UTSW |
5 |
90,401,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6306:Ankrd17
|
UTSW |
5 |
90,392,013 (GRCm39) |
missense |
probably benign |
0.03 |
R6418:Ankrd17
|
UTSW |
5 |
90,426,204 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6663:Ankrd17
|
UTSW |
5 |
90,411,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6758:Ankrd17
|
UTSW |
5 |
90,411,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ankrd17
|
UTSW |
5 |
90,402,597 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6793:Ankrd17
|
UTSW |
5 |
90,413,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Ankrd17
|
UTSW |
5 |
90,433,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7008:Ankrd17
|
UTSW |
5 |
90,407,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7051:Ankrd17
|
UTSW |
5 |
90,514,310 (GRCm39) |
unclassified |
probably benign |
|
R7077:Ankrd17
|
UTSW |
5 |
90,433,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7134:Ankrd17
|
UTSW |
5 |
90,433,382 (GRCm39) |
missense |
probably benign |
0.03 |
R7134:Ankrd17
|
UTSW |
5 |
90,380,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7138:Ankrd17
|
UTSW |
5 |
90,390,836 (GRCm39) |
missense |
probably benign |
0.38 |
R7143:Ankrd17
|
UTSW |
5 |
90,433,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7173:Ankrd17
|
UTSW |
5 |
90,407,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7176:Ankrd17
|
UTSW |
5 |
90,416,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Ankrd17
|
UTSW |
5 |
90,439,010 (GRCm39) |
missense |
possibly damaging |
0.45 |
R7390:Ankrd17
|
UTSW |
5 |
90,430,779 (GRCm39) |
missense |
probably benign |
0.13 |
R7430:Ankrd17
|
UTSW |
5 |
90,443,516 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7468:Ankrd17
|
UTSW |
5 |
90,390,902 (GRCm39) |
missense |
probably benign |
|
R7483:Ankrd17
|
UTSW |
5 |
90,447,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Ankrd17
|
UTSW |
5 |
90,381,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7610:Ankrd17
|
UTSW |
5 |
90,380,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7636:Ankrd17
|
UTSW |
5 |
90,380,239 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7790:Ankrd17
|
UTSW |
5 |
90,408,011 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7839:Ankrd17
|
UTSW |
5 |
90,411,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R7853:Ankrd17
|
UTSW |
5 |
90,386,825 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7976:Ankrd17
|
UTSW |
5 |
90,431,451 (GRCm39) |
nonsense |
probably null |
|
R8054:Ankrd17
|
UTSW |
5 |
90,438,914 (GRCm39) |
missense |
probably benign |
0.43 |
R8230:Ankrd17
|
UTSW |
5 |
90,391,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8274:Ankrd17
|
UTSW |
5 |
90,430,718 (GRCm39) |
missense |
probably benign |
0.15 |
R8365:Ankrd17
|
UTSW |
5 |
90,398,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8532:Ankrd17
|
UTSW |
5 |
90,412,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Ankrd17
|
UTSW |
5 |
90,443,452 (GRCm39) |
missense |
probably benign |
|
R8812:Ankrd17
|
UTSW |
5 |
90,441,062 (GRCm39) |
missense |
probably benign |
0.09 |
R8933:Ankrd17
|
UTSW |
5 |
90,406,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R9051:Ankrd17
|
UTSW |
5 |
90,411,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R9055:Ankrd17
|
UTSW |
5 |
90,380,168 (GRCm39) |
missense |
probably benign |
0.33 |
R9136:Ankrd17
|
UTSW |
5 |
90,392,278 (GRCm39) |
missense |
probably damaging |
0.96 |
R9158:Ankrd17
|
UTSW |
5 |
90,416,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Ankrd17
|
UTSW |
5 |
90,378,798 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9315:Ankrd17
|
UTSW |
5 |
90,398,360 (GRCm39) |
missense |
probably damaging |
0.97 |
R9364:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,391,986 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9369:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Ankrd17
|
UTSW |
5 |
90,401,536 (GRCm39) |
missense |
|
|
X0019:Ankrd17
|
UTSW |
5 |
90,446,513 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ankrd17
|
UTSW |
5 |
90,437,184 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Ankrd17
|
UTSW |
5 |
90,431,364 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCATATCATACCTTGATTGCC -3'
(R):5'- ATACGAACTGGACTCTTTGTATGG -3'
Sequencing Primer
(F):5'- TTGCCACCAATCCCTTCAAAGG -3'
(R):5'- CGAACTGGACTCTTTGTATGGAATTC -3'
|
Posted On |
2014-10-01 |