Incidental Mutation 'R5680:Ahdc1'
ID 442969
Institutional Source Beutler Lab
Gene Symbol Ahdc1
Ensembl Gene ENSMUSG00000037692
Gene Name AT hook, DNA binding motif, containing 1
Synonyms D030015G18Rik
MMRRC Submission 043177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R5680 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132738797-132805421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132792907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1383 (F1383I)
Ref Sequence ENSEMBL: ENSMUSP00000101536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044521] [ENSMUST00000105914] [ENSMUST00000105915] [ENSMUST00000105916]
AlphaFold Q6PAL7
Predicted Effect probably benign
Transcript: ENSMUST00000044521
AA Change: F1383I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: F1383I

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 probably benign
Transcript: ENSMUST00000105914
AA Change: F1383I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: F1383I

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 probably benign
Transcript: ENSMUST00000105915
AA Change: F1383I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: F1383I

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 probably benign
Transcript: ENSMUST00000105916
AA Change: F1383I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: F1383I

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: ENSMUST00000154482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154646
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
Abca6 A G 11: 110,127,471 (GRCm39) F362S possibly damaging Het
Adcy1 G A 11: 7,059,020 (GRCm39) V309M probably damaging Het
Agap2 A G 10: 126,923,880 (GRCm39) K752E unknown Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Atn1 A T 6: 124,724,778 (GRCm39) S152T possibly damaging Het
Bcl11a G A 11: 24,114,264 (GRCm39) V536M possibly damaging Het
Cdc20 T C 4: 118,290,264 (GRCm39) T466A probably damaging Het
Cecr2 C G 6: 120,738,387 (GRCm39) T1010R probably benign Het
Cfap54 A T 10: 92,814,879 (GRCm39) L1318* probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Dnah6 A G 6: 73,126,508 (GRCm39) V1273A probably damaging Het
G3bp2 T C 5: 92,216,219 (GRCm39) R106G probably damaging Het
Ggt7 A T 2: 155,348,353 (GRCm39) C100S probably damaging Het
Grik4 A T 9: 42,540,415 (GRCm39) M255K probably benign Het
Kcnj11 A T 7: 45,748,232 (GRCm39) S364T probably benign Het
Lnpep A T 17: 17,799,444 (GRCm39) Y70* probably null Het
Mark1 T C 1: 184,677,013 (GRCm39) H79R probably damaging Het
Mdfic2 T A 6: 98,225,187 (GRCm39) Q32L probably damaging Het
Myo9b T G 8: 71,743,016 (GRCm39) S26A probably benign Het
Pa2g4 G T 10: 128,395,326 (GRCm39) N306K probably benign Het
Pik3c3 T A 18: 30,410,166 (GRCm39) Y133* probably null Het
Prpf6 G T 2: 181,290,933 (GRCm39) A675S probably damaging Het
Psca A G 15: 74,587,948 (GRCm39) D44G probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Scn10a A G 9: 119,453,202 (GRCm39) L1231P probably damaging Het
Sirpa T C 2: 129,458,172 (GRCm39) S157P probably benign Het
Slc27a2 A T 2: 126,403,530 (GRCm39) R184S probably benign Het
Tagln2 T C 1: 172,333,479 (GRCm39) F111S probably damaging Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tert T A 13: 73,790,470 (GRCm39) probably null Het
Togaram2 G A 17: 71,996,204 (GRCm39) R68K probably benign Het
Trim40 A T 17: 37,199,874 (GRCm39) I68N probably damaging Het
Trpa1 T C 1: 14,946,078 (GRCm39) M1018V probably benign Het
Unc13c A T 9: 73,839,884 (GRCm39) N322K probably damaging Het
Vmn2r75 T A 7: 85,820,779 (GRCm39) T52S probably benign Het
Vmn2r90 T G 17: 17,947,034 (GRCm39) V437G possibly damaging Het
Vps16 C A 2: 130,282,244 (GRCm39) H389N 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCCTTTGGTGTGGGAGAAC -3'
(R):5'- TACCAGTAGGCTGTACCCTTGC -3'

Sequencing Primer
(F):5'- AGAACGCGATCCCTGTGACTTC -3'
(R):5'- AGTAGGCTGTACCCTTGCAACTAG -3'
Posted On 2016-11-09