Incidental Mutation 'IGL02133:Adam4'
ID 281068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam4
Ensembl Gene ENSMUSG00000072972
Gene Name a disintegrin and metallopeptidase domain 4
Synonyms tMDCV
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02133
Quality Score
Status
Chromosome 12
Chromosomal Location 81466217-81468720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81466803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 606 (V606A)
Ref Sequence ENSEMBL: ENSMUSP00000082427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold Q8CGQ2
Predicted Effect probably benign
Transcript: ENSMUST00000085319
AA Change: V606A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: V606A

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Pep_M12B_propep 46 163 9e-19 PFAM
Pfam:Reprolysin 213 406 1.3e-16 PFAM
DISIN 429 504 4.89e-37 SMART
ACR 505 648 2.28e-57 SMART
transmembrane domain 718 740 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110340
SMART Domains Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 74 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164386
SMART Domains Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

DomainStartEndE-ValueType
PDZ 21 100 6.16e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166723
SMART Domains Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 73 6.9e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G T 11: 52,294,337 (GRCm39) A193S probably damaging Het
Atp2c2 A G 8: 120,481,074 (GRCm39) I821V probably benign Het
Bmi1 A T 2: 18,688,488 (GRCm39) R160W probably damaging Het
Ccdc198 T A 14: 49,470,424 (GRCm39) Q165L probably benign Het
Ccdc88c G A 12: 100,906,349 (GRCm39) R1062C probably damaging Het
Cntnap3 A T 13: 64,899,487 (GRCm39) probably benign Het
Col20a1 C T 2: 180,648,937 (GRCm39) T940I probably damaging Het
Csmd3 A C 15: 47,721,338 (GRCm39) M1535R possibly damaging Het
Dhx38 C A 8: 110,284,873 (GRCm39) E487* probably null Het
Fam186b A G 15: 99,171,584 (GRCm39) S888P probably damaging Het
Fancm G A 12: 65,153,249 (GRCm39) G1235D probably benign Het
Grin3a C T 4: 49,792,946 (GRCm39) W262* probably null Het
Gtdc1 A T 2: 44,465,455 (GRCm39) M305K probably damaging Het
H2-M9 T C 17: 36,952,629 (GRCm39) E139G possibly damaging Het
Haus1 A T 18: 77,854,611 (GRCm39) L53Q probably damaging Het
Hgfac A G 5: 35,203,931 (GRCm39) Y483C probably damaging Het
Hipk2 C T 6: 38,796,069 (GRCm39) V67I probably benign Het
Kbtbd8 T C 6: 95,098,713 (GRCm39) probably benign Het
Kndc1 A G 7: 139,500,683 (GRCm39) T683A probably benign Het
Ldhb A T 6: 142,438,226 (GRCm39) M277K probably benign Het
Mgam T C 6: 40,620,010 (GRCm39) L33P probably damaging Het
Ndst1 A G 18: 60,832,618 (GRCm39) F571L probably benign Het
Neb G T 2: 52,102,816 (GRCm39) probably null Het
Nrxn1 A G 17: 90,950,671 (GRCm39) S503P probably damaging Het
Paqr3 A G 5: 97,243,790 (GRCm39) V308A probably benign Het
Scnn1g T C 7: 121,342,922 (GRCm39) F292L probably damaging Het
Stk3 A G 15: 35,099,662 (GRCm39) F88S probably damaging Het
Tcaf2 T A 6: 42,604,330 (GRCm39) E683V probably benign Het
Tprkb T C 6: 85,904,893 (GRCm39) V123A probably benign Het
Ush2a T C 1: 188,175,540 (GRCm39) Y1213H probably damaging Het
Vwa5b1 A G 4: 138,313,868 (GRCm39) probably null Het
Wls A G 3: 159,603,007 (GRCm39) Y140C probably damaging Het
Zan A G 5: 137,409,760 (GRCm39) S28P possibly damaging Het
Other mutations in Adam4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Adam4 APN 12 81,467,423 (GRCm39) missense probably damaging 0.96
IGL01133:Adam4 APN 12 81,468,220 (GRCm39) missense possibly damaging 0.53
IGL01636:Adam4 APN 12 81,466,723 (GRCm39) missense possibly damaging 0.81
IGL02137:Adam4 APN 12 81,467,877 (GRCm39) missense possibly damaging 0.91
IGL02425:Adam4 APN 12 81,468,102 (GRCm39) missense probably benign 0.07
IGL02686:Adam4 APN 12 81,468,448 (GRCm39) missense possibly damaging 0.88
R0554:Adam4 UTSW 12 81,468,198 (GRCm39) missense probably damaging 1.00
R0684:Adam4 UTSW 12 81,466,428 (GRCm39) missense probably damaging 1.00
R1519:Adam4 UTSW 12 81,467,651 (GRCm39) missense possibly damaging 0.67
R1636:Adam4 UTSW 12 81,466,464 (GRCm39) missense probably damaging 0.98
R1795:Adam4 UTSW 12 81,468,068 (GRCm39) missense probably benign 0.03
R1835:Adam4 UTSW 12 81,466,333 (GRCm39) missense probably benign 0.00
R2158:Adam4 UTSW 12 81,468,537 (GRCm39) missense probably damaging 1.00
R2393:Adam4 UTSW 12 81,467,485 (GRCm39) missense probably benign 0.02
R2923:Adam4 UTSW 12 81,467,518 (GRCm39) missense probably damaging 1.00
R3411:Adam4 UTSW 12 81,466,596 (GRCm39) missense possibly damaging 0.64
R4159:Adam4 UTSW 12 81,466,806 (GRCm39) missense probably damaging 0.99
R4509:Adam4 UTSW 12 81,468,521 (GRCm39) nonsense probably null
R4673:Adam4 UTSW 12 81,468,535 (GRCm39) missense possibly damaging 0.56
R4794:Adam4 UTSW 12 81,468,198 (GRCm39) missense probably damaging 0.99
R5564:Adam4 UTSW 12 81,466,348 (GRCm39) missense probably benign 0.00
R5774:Adam4 UTSW 12 81,467,460 (GRCm39) missense probably damaging 1.00
R6054:Adam4 UTSW 12 81,466,828 (GRCm39) missense probably damaging 0.99
R6722:Adam4 UTSW 12 81,468,228 (GRCm39) missense probably damaging 1.00
R6857:Adam4 UTSW 12 81,466,723 (GRCm39) missense possibly damaging 0.81
R7316:Adam4 UTSW 12 81,466,498 (GRCm39) missense probably benign 0.08
R7393:Adam4 UTSW 12 81,466,434 (GRCm39) missense probably benign 0.01
R7649:Adam4 UTSW 12 81,467,151 (GRCm39) missense probably damaging 1.00
R8245:Adam4 UTSW 12 81,466,657 (GRCm39) missense probably damaging 1.00
R8293:Adam4 UTSW 12 81,467,185 (GRCm39) nonsense probably null
R8729:Adam4 UTSW 12 81,468,176 (GRCm39) nonsense probably null
R8954:Adam4 UTSW 12 81,467,146 (GRCm39) missense possibly damaging 0.90
R9170:Adam4 UTSW 12 81,466,516 (GRCm39) missense probably benign 0.00
R9360:Adam4 UTSW 12 81,468,261 (GRCm39) missense probably damaging 1.00
R9433:Adam4 UTSW 12 81,466,723 (GRCm39) missense possibly damaging 0.81
R9452:Adam4 UTSW 12 81,467,071 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16