Incidental Mutation 'R9428:Ahdc1'
ID 712725
Institutional Source Beutler Lab
Gene Symbol Ahdc1
Ensembl Gene ENSMUSG00000037692
Gene Name AT hook, DNA binding motif, containing 1
Synonyms D030015G18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R9428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 132738797-132805421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132791773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1005 (P1005S)
Ref Sequence ENSEMBL: ENSMUSP00000047113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044521] [ENSMUST00000105914] [ENSMUST00000105915] [ENSMUST00000105916]
AlphaFold Q6PAL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044521
AA Change: P1005S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: P1005S

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: P1005S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: P1005S

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: P1005S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: P1005S

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: P1005S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: P1005S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Agmo A G 12: 37,455,330 (GRCm39) I281M probably benign Het
Akap12 T A 10: 4,303,409 (GRCm39) V178D probably damaging Het
Arc A G 15: 74,543,063 (GRCm39) S387P probably benign Het
Arhgap11a C T 2: 113,667,279 (GRCm39) V423I probably benign Het
Arhgap44 A G 11: 64,899,168 (GRCm39) S670P probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
C4bp A T 1: 130,581,094 (GRCm39) F138L probably benign Het
Carmil1 A T 13: 24,295,834 (GRCm39) C393* probably null Het
Cblif A G 19: 11,735,102 (GRCm39) T241A probably benign Het
Celsr1 A T 15: 85,815,549 (GRCm39) V1822E possibly damaging Het
Chgb C G 2: 132,635,154 (GRCm39) S365R probably damaging Het
Cnih3 T C 1: 181,180,857 (GRCm39) probably benign Het
Dcaf1 T A 9: 106,735,528 (GRCm39) D825E possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmbt1 A T 7: 130,668,208 (GRCm39) E488V unknown Het
Espnl A G 1: 91,273,595 (GRCm39) Y985C probably damaging Het
Frmpd2 T C 14: 33,272,010 (GRCm39) V1048A probably damaging Het
Fxn A T 19: 24,249,787 (GRCm39) L100Q probably damaging Het
Gapvd1 T A 2: 34,607,318 (GRCm39) D560V probably damaging Het
Gm4924 T A 10: 82,213,490 (GRCm39) H429Q unknown Het
Gpr158 T C 2: 21,787,972 (GRCm39) F538L probably benign Het
Itpr1 T A 6: 108,378,308 (GRCm39) M1278K possibly damaging Het
Ivd T A 2: 118,708,369 (GRCm39) V361E probably damaging Het
Kcnh6 T C 11: 105,899,821 (GRCm39) L30P probably damaging Het
Lipo4 C T 19: 33,495,074 (GRCm39) V35I probably benign Het
Lmo7 A G 14: 102,155,076 (GRCm39) D1200G probably damaging Het
Med1 T A 11: 98,080,049 (GRCm39) R31* probably null Het
Mill2 A T 7: 18,573,950 (GRCm39) R12* probably null Het
Mphosph8 A G 14: 56,934,114 (GRCm39) probably null Het
Mtfr2 T A 10: 20,233,039 (GRCm39) S203T possibly damaging Het
Muc5ac A C 7: 141,362,559 (GRCm39) T1957P unknown Het
Mxi1 C A 19: 53,299,213 (GRCm39) P28Q probably benign Het
Mycbpap T C 11: 94,393,995 (GRCm39) D367G probably damaging Het
Nav3 T C 10: 109,605,176 (GRCm39) T966A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Ndst2 A T 14: 20,775,470 (GRCm39) F673L possibly damaging Het
Ndst3 T A 3: 123,340,518 (GRCm39) I767F probably benign Het
Nell1 A T 7: 50,503,683 (GRCm39) D696V probably damaging Het
Nol9 A T 4: 152,124,109 (GRCm39) T100S probably benign Het
Nr4a1 T C 15: 101,168,245 (GRCm39) S94P probably damaging Het
Nrdc T C 4: 108,858,121 (GRCm39) I31T probably damaging Het
Oas2 T A 5: 120,887,576 (GRCm39) D88V probably damaging Het
Or8w1 T C 2: 87,465,774 (GRCm39) I106V probably benign Het
Pex6 A G 17: 47,022,991 (GRCm39) H189R probably benign Het
Pgap1 A G 1: 54,575,206 (GRCm39) S239P probably damaging Het
Pheta1 C T 5: 121,991,147 (GRCm39) P170S possibly damaging Het
Plec A G 15: 76,067,721 (GRCm39) probably null Het
Plekhg5 T C 4: 152,192,780 (GRCm39) V582A probably benign Het
Plekhh2 G T 17: 84,873,841 (GRCm39) E375D probably benign Het
Pramel55 G T 5: 95,949,545 (GRCm39) R97S probably damaging Het
Prp2rt A G 13: 97,235,724 (GRCm39) S8P probably benign Het
Psmd4 G A 3: 94,940,767 (GRCm39) T332I probably benign Het
Ptprc T A 1: 138,041,485 (GRCm39) T76S probably benign Het
Rab44 A T 17: 29,358,315 (GRCm39) I168L Het
Ros1 T C 10: 51,958,061 (GRCm39) T1872A probably benign Het
Scgb1b24 A T 7: 33,443,493 (GRCm39) K51* probably null Het
Scube2 A T 7: 109,428,345 (GRCm39) D509E probably benign Het
Sgo2b A T 8: 64,393,067 (GRCm39) S123R probably damaging Het
Smc3 G C 19: 53,617,150 (GRCm39) R521P possibly damaging Het
Socs4 G A 14: 47,528,034 (GRCm39) R323H probably damaging Het
Socs5 T A 17: 87,441,067 (GRCm39) D2E probably benign Het
Sra1 A G 18: 36,810,299 (GRCm39) V121A probably damaging Het
Stimate T C 14: 30,594,645 (GRCm39) S253P probably benign Het
Tanc1 T C 2: 59,601,548 (GRCm39) L143P probably damaging Het
Tcerg1l A T 7: 137,811,490 (GRCm39) F568Y probably damaging Het
Trpm7 T C 2: 126,671,140 (GRCm39) E614G probably damaging Het
Tuba4a G T 1: 75,192,686 (GRCm39) H337Q Het
Tubgcp6 G A 15: 88,985,100 (GRCm39) H1663Y probably damaging Het
Ush2a A G 1: 188,175,316 (GRCm39) Y1138C probably damaging Het
Vmn1r18 A T 6: 57,367,535 (GRCm39) N6K possibly damaging Het
Vmn1r213 G A 13: 23,195,944 (GRCm39) A176T Het
Vmn1r215 A T 13: 23,260,749 (GRCm39) H263L probably benign Het
Vmn2r51 CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC CGGC 7: 9,833,712 (GRCm39) probably benign Het
Wdhd1 A C 14: 47,489,427 (GRCm39) L702* probably null Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G probably benign 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
IGL02828:Ahdc1 APN 4 132,790,232 (GRCm39) missense possibly damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TGAGACCTTCCCAAAGCTGG -3'
(R):5'- TTCTCAGGTGAGGGCTGAAAG -3'

Sequencing Primer
(F):5'- TCCCAAAGCTGGCTCCC -3'
(R):5'- ATGTAGCCACCGGGTGAGAC -3'
Posted On 2022-05-16