Incidental Mutation 'R0025:Ankrd17'
ID |
40765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
038320-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0025 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
90375025-90514436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90398264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1762
(D1762G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
[ENSMUST00000218526]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014421
AA Change: D1762G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: D1762G
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 |
probably benign
Transcript: ENSMUST00000081914
AA Change: D1511G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: D1511G
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 |
possibly damaging
Transcript: ENSMUST00000168058
AA Change: D1761G
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128960 Gene: ENSMUSG00000055204 AA Change: D1761G
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 |
possibly damaging
Transcript: ENSMUST00000197021
AA Change: D1653G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: D1653G
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: ENSMUST00000199096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200012
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218526
|
Meta Mutation Damage Score |
0.2147 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
Validation Efficiency |
98% (115/117) |
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: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
Asb8 |
C |
T |
15: 98,040,552 (GRCm39) |
V37I |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,721,436 (GRCm39) |
T694A |
possibly damaging |
Het |
Btnl6 |
A |
T |
17: 34,733,273 (GRCm39) |
M234K |
probably benign |
Het |
Ccnb1 |
A |
T |
13: 100,916,289 (GRCm39) |
V336D |
probably damaging |
Het |
Cdca8 |
A |
T |
4: 124,815,047 (GRCm39) |
L190Q |
possibly damaging |
Het |
Cep290 |
A |
T |
10: 100,373,693 (GRCm39) |
L1324F |
probably damaging |
Het |
Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
C |
T |
4: 155,510,572 (GRCm39) |
R386C |
probably benign |
Het |
Clec3b |
A |
G |
9: 122,986,090 (GRCm39) |
T163A |
probably benign |
Het |
Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,194,214 (GRCm39) |
D857G |
probably damaging |
Het |
Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
Cyb5d1 |
A |
G |
11: 69,285,792 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
A |
G |
9: 57,589,344 (GRCm39) |
S157P |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,900,238 (GRCm39) |
T349S |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
Denr |
A |
G |
5: 124,065,298 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
Dph3b-ps |
A |
T |
13: 106,683,375 (GRCm39) |
|
noncoding transcript |
Het |
Emc7 |
G |
T |
2: 112,289,830 (GRCm39) |
D87Y |
probably damaging |
Het |
Enah |
T |
C |
1: 181,740,938 (GRCm39) |
E462G |
possibly damaging |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
Fam151a |
T |
C |
4: 106,605,371 (GRCm39) |
Y578H |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,618,880 (GRCm39) |
V1512A |
probably damaging |
Het |
Focad |
C |
A |
4: 88,327,196 (GRCm39) |
N168K |
probably benign |
Het |
Fyco1 |
A |
G |
9: 123,658,074 (GRCm39) |
C701R |
probably damaging |
Het |
Gabbr1 |
G |
T |
17: 37,378,102 (GRCm39) |
|
probably benign |
Het |
Golga7b |
A |
T |
19: 42,255,278 (GRCm39) |
E76V |
probably damaging |
Het |
Gucy2d |
A |
G |
7: 98,116,959 (GRCm39) |
D924G |
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,952,647 (GRCm39) |
F133S |
probably damaging |
Het |
Hc |
A |
G |
2: 34,876,304 (GRCm39) |
Y1581H |
probably damaging |
Het |
Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,492,436 (GRCm39) |
|
probably benign |
Het |
Iigp1 |
T |
A |
18: 60,523,859 (GRCm39) |
S326T |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Kcnk7 |
T |
G |
19: 5,757,042 (GRCm39) |
*344G |
probably null |
Het |
Kif13a |
A |
G |
13: 46,939,987 (GRCm39) |
|
probably null |
Het |
Kif1a |
A |
C |
1: 92,970,080 (GRCm39) |
I1027S |
probably damaging |
Het |
Kif2c |
G |
T |
4: 117,022,714 (GRCm39) |
H416Q |
probably damaging |
Het |
Liat1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 75,890,941 (GRCm39) |
|
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,663 (GRCm39) |
V864A |
probably benign |
Het |
Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
Micu1 |
A |
G |
10: 59,624,699 (GRCm39) |
|
probably null |
Het |
Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
Mov10 |
A |
C |
3: 104,711,919 (GRCm39) |
L224R |
probably damaging |
Het |
Ndel1 |
T |
C |
11: 68,726,999 (GRCm39) |
E226G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,112,786 (GRCm39) |
V4336E |
probably damaging |
Het |
Nln |
T |
A |
13: 104,173,399 (GRCm39) |
K602N |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
Nmd3 |
A |
T |
3: 69,655,654 (GRCm39) |
D445V |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,801,297 (GRCm39) |
I625V |
probably benign |
Het |
Notch1 |
T |
C |
2: 26,360,943 (GRCm39) |
Q1134R |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 56,998,627 (GRCm39) |
I392M |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,963 (GRCm39) |
F257L |
possibly damaging |
Het |
Or4f6 |
T |
A |
2: 111,839,365 (GRCm39) |
L55F |
probably damaging |
Het |
Or8b57 |
A |
G |
9: 40,003,549 (GRCm39) |
S234P |
probably damaging |
Het |
Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
Pak4 |
G |
A |
7: 28,263,708 (GRCm39) |
R343C |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,934 (GRCm39) |
V416A |
possibly damaging |
Het |
Plek |
A |
C |
11: 16,935,594 (GRCm39) |
W261G |
probably damaging |
Het |
Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
Prph2 |
A |
C |
17: 47,230,697 (GRCm39) |
K197Q |
probably benign |
Het |
Prss45 |
T |
A |
9: 110,669,962 (GRCm39) |
L257Q |
probably damaging |
Het |
Psmb6 |
C |
A |
11: 70,417,171 (GRCm39) |
H73Q |
probably benign |
Het |
Rin2 |
T |
C |
2: 145,720,752 (GRCm39) |
|
probably benign |
Het |
Rps6kb1 |
A |
T |
11: 86,402,413 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
A |
9: 119,499,550 (GRCm39) |
D248Y |
probably damaging |
Het |
Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
Siglecf |
A |
T |
7: 43,001,349 (GRCm39) |
I106F |
probably benign |
Het |
Sik1 |
A |
G |
17: 32,066,249 (GRCm39) |
|
probably benign |
Het |
Slc22a21 |
T |
G |
11: 53,870,514 (GRCm39) |
N57T |
probably damaging |
Het |
Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
Slc4a9 |
G |
T |
18: 36,664,719 (GRCm39) |
|
probably benign |
Het |
Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
Stc2 |
A |
T |
11: 31,315,559 (GRCm39) |
|
probably null |
Het |
Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
Tnfaip8l2 |
G |
A |
3: 95,047,339 (GRCm39) |
L175F |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
Tprg1l |
G |
T |
4: 154,244,802 (GRCm39) |
|
probably benign |
Het |
Triml2 |
A |
G |
8: 43,638,469 (GRCm39) |
M146V |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
Vmn2r19 |
C |
T |
6: 123,308,506 (GRCm39) |
L528F |
probably benign |
Het |
Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 101,992,912 (GRCm39) |
D3341G |
probably damaging |
Het |
Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
Wdr47 |
G |
T |
3: 108,545,307 (GRCm39) |
A733S |
probably damaging |
Het |
Zfp458 |
T |
A |
13: 67,405,962 (GRCm39) |
H156L |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,821,665 (GRCm39) |
E466G |
probably damaging |
Het |
Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
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 |
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 |
R2153:Ankrd17
|
UTSW |
5 |
90,381,918 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- acacTACTCCCCTACTCAAATGGTTCTT -3'
(R):5'- GCAGTAGCCGAGTACATACCTACCT -3'
Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- gccaatatctacttttctatccacc -3'
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Posted On |
2013-05-23 |