Incidental Mutation 'IGL02828:Ahdc1'
ID 361313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ahdc1
Ensembl Gene ENSMUSG00000037692
Gene Name AT hook, DNA binding motif, containing 1
Synonyms D030015G18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL02828
Quality Score
Status
Chromosome 4
Chromosomal Location 132738797-132805421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132790232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 491 (K491I)
Ref Sequence ENSEMBL: ENSMUSP00000101536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044521] [ENSMUST00000105914] [ENSMUST00000105915] [ENSMUST00000105916]
AlphaFold Q6PAL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044521
AA Change: K491I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: K491I

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
low complexity region 207 234 N/A INTRINSIC
low complexity region 259 279 N/A INTRINSIC
low complexity region 284 303 N/A INTRINSIC
low complexity region 327 341 N/A INTRINSIC
low complexity region 369 379 N/A INTRINSIC
AT_hook 395 407 2.04e2 SMART
low complexity region 418 446 N/A INTRINSIC
low complexity region 491 508 N/A INTRINSIC
AT_hook 541 553 5.47e-1 SMART
low complexity region 661 685 N/A INTRINSIC
low complexity region 696 714 N/A INTRINSIC
low complexity region 770 785 N/A INTRINSIC
low complexity region 805 820 N/A INTRINSIC
low complexity region 836 857 N/A INTRINSIC
low complexity region 963 974 N/A INTRINSIC
low complexity region 1003 1028 N/A INTRINSIC
low complexity region 1072 1084 N/A INTRINSIC
low complexity region 1153 1168 N/A INTRINSIC
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1243 1251 N/A INTRINSIC
low complexity region 1257 1271 N/A INTRINSIC
low complexity region 1422 1436 N/A INTRINSIC
low complexity region 1513 1528 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105914
AA Change: K491I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: K491I

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
low complexity region 207 234 N/A INTRINSIC
low complexity region 259 279 N/A INTRINSIC
low complexity region 284 303 N/A INTRINSIC
low complexity region 327 341 N/A INTRINSIC
low complexity region 369 379 N/A INTRINSIC
AT_hook 395 407 2.04e2 SMART
low complexity region 418 446 N/A INTRINSIC
low complexity region 491 508 N/A INTRINSIC
AT_hook 541 553 5.47e-1 SMART
Pfam:DUF4683 559 639 6.4e-15 PFAM
low complexity region 661 685 N/A INTRINSIC
low complexity region 696 714 N/A INTRINSIC
low complexity region 770 785 N/A INTRINSIC
low complexity region 805 820 N/A INTRINSIC
low complexity region 836 857 N/A INTRINSIC
low complexity region 963 974 N/A INTRINSIC
low complexity region 1003 1028 N/A INTRINSIC
low complexity region 1072 1084 N/A INTRINSIC
low complexity region 1153 1168 N/A INTRINSIC
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1243 1251 N/A INTRINSIC
low complexity region 1257 1271 N/A INTRINSIC
low complexity region 1422 1436 N/A INTRINSIC
low complexity region 1513 1528 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105915
AA Change: K491I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: K491I

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
low complexity region 207 234 N/A INTRINSIC
low complexity region 259 279 N/A INTRINSIC
low complexity region 284 303 N/A INTRINSIC
low complexity region 327 341 N/A INTRINSIC
low complexity region 369 379 N/A INTRINSIC
AT_hook 395 407 2.04e2 SMART
low complexity region 418 446 N/A INTRINSIC
low complexity region 491 508 N/A INTRINSIC
AT_hook 541 553 5.47e-1 SMART
low complexity region 661 685 N/A INTRINSIC
low complexity region 696 714 N/A INTRINSIC
low complexity region 770 785 N/A INTRINSIC
low complexity region 805 820 N/A INTRINSIC
low complexity region 836 857 N/A INTRINSIC
low complexity region 963 974 N/A INTRINSIC
low complexity region 1003 1028 N/A INTRINSIC
low complexity region 1072 1084 N/A INTRINSIC
low complexity region 1153 1168 N/A INTRINSIC
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1243 1251 N/A INTRINSIC
low complexity region 1257 1271 N/A INTRINSIC
low complexity region 1422 1436 N/A INTRINSIC
low complexity region 1513 1528 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105916
AA Change: K491I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: K491I

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
low complexity region 207 234 N/A INTRINSIC
low complexity region 259 279 N/A INTRINSIC
low complexity region 284 303 N/A INTRINSIC
low complexity region 327 341 N/A INTRINSIC
low complexity region 369 379 N/A INTRINSIC
AT_hook 395 407 2.04e2 SMART
low complexity region 418 446 N/A INTRINSIC
low complexity region 491 508 N/A INTRINSIC
AT_hook 541 553 5.47e-1 SMART
low complexity region 661 685 N/A INTRINSIC
low complexity region 696 714 N/A INTRINSIC
low complexity region 770 785 N/A INTRINSIC
low complexity region 805 820 N/A INTRINSIC
low complexity region 836 857 N/A INTRINSIC
low complexity region 963 974 N/A INTRINSIC
low complexity region 1003 1028 N/A INTRINSIC
low complexity region 1072 1084 N/A INTRINSIC
low complexity region 1153 1168 N/A INTRINSIC
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1243 1251 N/A INTRINSIC
low complexity region 1257 1271 N/A INTRINSIC
low complexity region 1422 1436 N/A INTRINSIC
low complexity region 1513 1528 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154482
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,871,720 (GRCm39) T86I probably damaging Het
Adam28 C T 14: 68,884,319 (GRCm39) S93N possibly damaging Het
Adamts6 T C 13: 104,433,978 (GRCm39) Y136H probably damaging Het
Alb C A 5: 90,615,247 (GRCm39) A253E probably benign Het
Asb18 A G 1: 89,923,932 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,718 (GRCm39) N1909K possibly damaging Het
Atosa G T 9: 74,913,714 (GRCm39) A123S probably damaging Het
Atp12a T A 14: 56,613,599 (GRCm39) V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 (GRCm38) G334W probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Clec2h T A 6: 128,652,885 (GRCm39) H217Q probably benign Het
Col6a3 T C 1: 90,724,281 (GRCm39) E1416G probably damaging Het
Dcaf1 T A 9: 106,721,501 (GRCm39) probably benign Het
Ddr2 C T 1: 169,816,082 (GRCm39) A542T probably benign Het
Ebf3 T C 7: 136,909,247 (GRCm39) N174S probably damaging Het
Ecpas A G 4: 58,875,512 (GRCm39) S151P possibly damaging Het
Ephb2 A G 4: 136,498,461 (GRCm39) I206T probably benign Het
Fbxo39 T A 11: 72,208,041 (GRCm39) I131N possibly damaging Het
Fdxacb1 G A 9: 50,682,864 (GRCm39) V276I possibly damaging Het
Gpr146 A T 5: 139,378,576 (GRCm39) Y126F probably damaging Het
Hivep3 A T 4: 119,954,929 (GRCm39) K1082* probably null Het
Ifnar1 T A 16: 91,302,304 (GRCm39) probably null Het
Kap A G 6: 133,829,057 (GRCm39) V25A probably benign Het
Klhl2 C A 8: 65,232,791 (GRCm39) R162L probably damaging Het
Kmt2a A G 9: 44,733,244 (GRCm39) probably benign Het
Lrp4 A G 2: 91,305,639 (GRCm39) N303S probably benign Het
Mtpap A T 18: 4,386,207 (GRCm39) N276Y probably damaging Het
Nlrp5 G A 7: 23,120,885 (GRCm39) G684S possibly damaging Het
Or10g3b T C 14: 52,586,799 (GRCm39) R235G probably benign Het
Or14a256 A T 7: 86,265,277 (GRCm39) V192E possibly damaging Het
Pak2 A T 16: 31,840,674 (GRCm39) L469H probably damaging Het
Pcdhb15 T A 18: 37,606,903 (GRCm39) L45Q probably damaging Het
Pi4ka A T 16: 17,098,575 (GRCm39) probably benign Het
Picalm A G 7: 89,826,709 (GRCm39) T386A probably benign Het
Pkd1l2 T C 8: 117,756,298 (GRCm39) T1645A probably benign Het
Plekhm2 A T 4: 141,356,941 (GRCm39) V754E probably damaging Het
Pramel25 A T 4: 143,521,695 (GRCm39) D437V possibly damaging Het
Rbl1 T A 2: 157,041,384 (GRCm39) E81V probably damaging Het
Rbp4 C A 19: 38,106,717 (GRCm39) probably null Het
Rdh12 T C 12: 79,265,459 (GRCm39) V211A probably damaging Het
Ret G A 6: 118,153,168 (GRCm39) A500V probably benign Het
Rin1 T C 19: 5,103,118 (GRCm39) F469S possibly damaging Het
Rmc1 C A 18: 12,322,278 (GRCm39) A577D possibly damaging Het
Rsc1a1 G T 4: 141,411,479 (GRCm39) P478T probably damaging Het
Setd2 A T 9: 110,390,282 (GRCm39) Y1579F probably benign Het
Sh3bp5 A T 14: 31,156,106 (GRCm39) probably benign Het
Slc22a13 G T 9: 119,024,773 (GRCm39) L235I probably benign Het
Slc6a11 A T 6: 114,111,948 (GRCm39) T172S possibly damaging Het
Slitrk1 G T 14: 109,149,048 (GRCm39) S554R possibly damaging Het
Tg G A 15: 66,554,243 (GRCm39) G553S probably damaging Het
Tmem26 G A 10: 68,611,215 (GRCm39) probably null Het
Trpm2 A T 10: 77,754,820 (GRCm39) L1222Q probably benign Het
Vdac2 T C 14: 21,893,957 (GRCm39) V249A probably benign Het
Vmn1r170 T C 7: 23,305,943 (GRCm39) V115A probably damaging Het
Vmn2r105 A G 17: 20,429,345 (GRCm39) V577A possibly damaging Het
Xpo1 A G 11: 23,232,593 (GRCm39) E371G probably damaging Het
Zfp106 A C 2: 120,362,178 (GRCm39) H980Q possibly damaging Het
Other mutations in Ahdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Ahdc1 APN 4 132,790,373 (GRCm39) missense probably benign 0.33
IGL02293:Ahdc1 APN 4 132,792,929 (GRCm39) missense possibly damaging 0.85
IGL02338:Ahdc1 APN 4 132,789,860 (GRCm39) missense possibly damaging 0.73
IGL02859:Ahdc1 APN 4 132,790,004 (GRCm39) missense probably damaging 0.99
IGL02859:Ahdc1 APN 4 132,790,003 (GRCm39) missense possibly damaging 0.53
IGL02901:Ahdc1 APN 4 132,792,245 (GRCm39) missense possibly damaging 0.85
IGL03323:Ahdc1 APN 4 132,792,739 (GRCm39) missense probably benign
FR4304:Ahdc1 UTSW 4 132,790,070 (GRCm39) small insertion probably benign
FR4548:Ahdc1 UTSW 4 132,790,071 (GRCm39) small insertion probably benign
FR4548:Ahdc1 UTSW 4 132,790,068 (GRCm39) small insertion probably benign
FR4737:Ahdc1 UTSW 4 132,790,070 (GRCm39) small insertion probably benign
R0325:Ahdc1 UTSW 4 132,790,030 (GRCm39) missense unknown
R0550:Ahdc1 UTSW 4 132,790,348 (GRCm39) missense probably benign 0.33
R0681:Ahdc1 UTSW 4 132,792,827 (GRCm39) missense possibly damaging 0.53
R0683:Ahdc1 UTSW 4 132,792,827 (GRCm39) missense possibly damaging 0.53
R0731:Ahdc1 UTSW 4 132,790,262 (GRCm39) missense possibly damaging 0.86
R0751:Ahdc1 UTSW 4 132,792,707 (GRCm39) missense probably benign 0.02
R1137:Ahdc1 UTSW 4 132,789,424 (GRCm39) missense possibly damaging 0.68
R1184:Ahdc1 UTSW 4 132,792,707 (GRCm39) missense probably benign 0.02
R1331:Ahdc1 UTSW 4 132,791,002 (GRCm39) missense probably benign 0.18
R1599:Ahdc1 UTSW 4 132,792,247 (GRCm39) missense possibly damaging 0.91
R2202:Ahdc1 UTSW 4 132,793,220 (GRCm39) missense possibly damaging 0.72
R2205:Ahdc1 UTSW 4 132,793,220 (GRCm39) missense possibly damaging 0.72
R2261:Ahdc1 UTSW 4 132,790,474 (GRCm39) missense unknown
R2262:Ahdc1 UTSW 4 132,790,474 (GRCm39) missense unknown
R3683:Ahdc1 UTSW 4 132,793,013 (GRCm39) missense possibly damaging 0.96
R3684:Ahdc1 UTSW 4 132,793,013 (GRCm39) missense possibly damaging 0.96
R3685:Ahdc1 UTSW 4 132,793,013 (GRCm39) missense possibly damaging 0.96
R3713:Ahdc1 UTSW 4 132,793,297 (GRCm39) missense possibly damaging 0.85
R4027:Ahdc1 UTSW 4 132,791,476 (GRCm39) missense possibly damaging 0.73
R4807:Ahdc1 UTSW 4 132,791,624 (GRCm39) missense possibly damaging 0.86
R4987:Ahdc1 UTSW 4 132,791,631 (GRCm39) missense possibly damaging 0.53
R5126:Ahdc1 UTSW 4 132,790,833 (GRCm39) missense probably benign 0.18
R5276:Ahdc1 UTSW 4 132,790,109 (GRCm39) missense possibly damaging 0.93
R5680:Ahdc1 UTSW 4 132,792,907 (GRCm39) missense probably benign
R5997:Ahdc1 UTSW 4 132,791,206 (GRCm39) missense probably benign 0.05
R6050:Ahdc1 UTSW 4 132,793,202 (GRCm39) missense possibly damaging 0.85
R6271:Ahdc1 UTSW 4 132,792,035 (GRCm39) missense possibly damaging 0.73
R6410:Ahdc1 UTSW 4 132,790,210 (GRCm39) missense probably damaging 0.97
R6519:Ahdc1 UTSW 4 132,792,079 (GRCm39) missense possibly damaging 0.86
R6970:Ahdc1 UTSW 4 132,789,656 (GRCm39) missense possibly damaging 0.96
R7199:Ahdc1 UTSW 4 132,791,935 (GRCm39) missense probably benign 0.33
R7202:Ahdc1 UTSW 4 132,789,198 (GRCm39) nonsense probably null
R7576:Ahdc1 UTSW 4 132,792,313 (GRCm39) missense possibly damaging 0.91
R7614:Ahdc1 UTSW 4 132,790,825 (GRCm39) missense probably benign 0.18
R7794:Ahdc1 UTSW 4 132,791,289 (GRCm39) missense possibly damaging 0.70
R7875:Ahdc1 UTSW 4 132,791,161 (GRCm39) missense possibly damaging 0.53
R8016:Ahdc1 UTSW 4 132,790,226 (GRCm39) missense possibly damaging 0.96
R8295:Ahdc1 UTSW 4 132,788,762 (GRCm39) start codon destroyed probably null 0.53
R8332:Ahdc1 UTSW 4 132,791,282 (GRCm39) missense possibly damaging 0.85
R8719:Ahdc1 UTSW 4 132,791,533 (GRCm39) missense possibly damaging 0.86
R8725:Ahdc1 UTSW 4 132,792,743 (GRCm39) missense possibly damaging 0.86
R8862:Ahdc1 UTSW 4 132,791,129 (GRCm39) missense possibly damaging 0.53
R9158:Ahdc1 UTSW 4 132,792,505 (GRCm39) missense possibly damaging 0.53
R9179:Ahdc1 UTSW 4 132,788,929 (GRCm39) missense possibly damaging 0.93
R9362:Ahdc1 UTSW 4 132,790,348 (GRCm39) missense probably benign 0.33
R9428:Ahdc1 UTSW 4 132,791,773 (GRCm39) missense possibly damaging 0.93
RF017:Ahdc1 UTSW 4 132,790,062 (GRCm39) small insertion probably benign
RF020:Ahdc1 UTSW 4 132,791,588 (GRCm39) missense possibly damaging 0.96
T0722:Ahdc1 UTSW 4 132,790,065 (GRCm39) small insertion probably benign
T0975:Ahdc1 UTSW 4 132,790,065 (GRCm39) small insertion probably benign
Posted On 2015-12-18