Incidental Mutation 'IGL00088:Ankhd1'
ID 747
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL00088
Quality Score
Status
Chromosome 18
Chromosomal Location 36693656-36791961 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 36798512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036765] [ENSMUST00000142977] [ENSMUST00000173875]
AlphaFold E9PUR0
PDB Structure Solution structure of mouse Steroid receptor RNA activator 1 (SRA1) protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000006209
SMART Domains Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050

DomainStartEndE-ValueType
Pfam:SRA1 65 208 1e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036765
SMART Domains Protein: ENSMUSP00000039298
Gene: ENSMUSG00000090264

DomainStartEndE-ValueType
Pfam:eIF_4EBP 3 101 4.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140061
SMART Domains Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483

DomainStartEndE-ValueType
low complexity region 54 70 N/A INTRINSIC
low complexity region 77 94 N/A INTRINSIC
low complexity region 355 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142977
SMART Domains Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000173202
Predicted Effect probably benign
Transcript: ENSMUST00000173482
Predicted Effect probably benign
Transcript: ENSMUST00000173875
SMART Domains Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050

DomainStartEndE-ValueType
Pfam:SRA1 72 217 1.1e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174125
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Ankhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
FR4304:Ankhd1 UTSW 18 36,693,977 (GRCm39) small insertion 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
Posted On 2011-07-12