Incidental Mutation 'IGL02705:Ankrd17'
ID 304296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd17
Ensembl Gene ENSMUSG00000055204
Gene Name ankyrin repeat domain 17
Synonyms Gtar, A130069E23Rik, 4933425K22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02705
Quality Score
Status
Chromosome 5
Chromosomal Location 90375025-90514436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90430974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 937 (P937S)
Ref Sequence ENSEMBL: ENSMUSP00000014421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014421] [ENSMUST00000081914] [ENSMUST00000168058] [ENSMUST00000197021] [ENSMUST00000218526]
AlphaFold Q99NH0
Predicted Effect probably benign
Transcript: ENSMUST00000014421
AA Change: P937S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014421
Gene: ENSMUSG00000055204
AA Change: P937S

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000080587
Gene: ENSMUSG00000055204

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000168058
AA Change: P937S
SMART Domains Protein: ENSMUSP00000128960
Gene: ENSMUSG00000055204
AA Change: P937S

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000197021
AA Change: P828S
SMART Domains Protein: ENSMUSP00000142575
Gene: ENSMUSG00000055204
AA Change: P828S

DomainStartEndE-ValueType
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: ENSMUST00000199965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200012
Predicted Effect probably benign
Transcript: ENSMUST00000218526
AA Change: P937S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,791,264 (GRCm39) F99S probably damaging Het
Apom T G 17: 35,349,471 (GRCm39) probably null Het
Baz2b A G 2: 59,778,604 (GRCm39) I752T possibly damaging Het
Bcat1 T C 6: 144,964,914 (GRCm39) probably benign Het
Bcl9 A G 3: 97,112,181 (GRCm39) F1425L possibly damaging Het
Bco1 G A 8: 117,844,242 (GRCm39) V319M possibly damaging Het
Dmwd C A 7: 18,814,769 (GRCm39) T473K probably benign Het
Garin4 T C 1: 190,896,499 (GRCm39) Y48C probably damaging Het
Gata2 C T 6: 88,182,346 (GRCm39) A438V possibly damaging Het
Ifnz A G 4: 88,701,574 (GRCm39) probably benign Het
Myh14 T C 7: 44,257,960 (GRCm39) I1859V possibly damaging Het
Ndn A G 7: 61,998,856 (GRCm39) D234G probably damaging Het
Nfe2l3 T C 6: 51,410,098 (GRCm39) L71P probably damaging Het
Nfia T G 4: 97,671,605 (GRCm39) L105R probably damaging Het
Npy2r T A 3: 82,448,056 (GRCm39) T127S probably benign Het
Or51a8 T C 7: 102,550,449 (GRCm39) Y292H probably damaging Het
Or7g12 T A 9: 18,899,696 (GRCm39) N137K probably benign Het
Ppip5k2 A T 1: 97,686,924 (GRCm39) C94S probably damaging Het
Pramel26 A G 4: 143,537,372 (GRCm39) S320P probably damaging Het
Slc1a6 T C 10: 78,637,788 (GRCm39) V438A probably damaging Het
Slc6a7 C T 18: 61,142,500 (GRCm39) G71R probably damaging Het
Styk1 C T 6: 131,289,546 (GRCm39) V23I probably benign Het
Tmprss5 C A 9: 49,018,447 (GRCm39) N92K probably benign Het
Trpm6 T G 19: 18,754,097 (GRCm39) probably null Het
Ttn C T 2: 76,677,114 (GRCm39) probably benign Het
Tut7 A G 13: 59,937,017 (GRCm39) F808S probably damaging Het
Vmn2r109 G A 17: 20,774,062 (GRCm39) A431V probably benign Het
Wdr17 C T 8: 55,101,250 (GRCm39) probably null Het
Zfp407 G T 18: 84,577,156 (GRCm39) S1319* probably null Het
Other mutations in Ankrd17
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16