Incidental Mutation 'IGL01133:Adam4'
ID 52486
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 # IGL01133
Quality Score
Status
Chromosome 12
Chromosomal Location 81466217-81468720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81468220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 134 (T134A)
Ref Sequence ENSEMBL: ENSMUSP00000082427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold Q8CGQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000085319
AA Change: T134A

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: T134A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cartpt T G 13: 100,036,548 (GRCm39) I67L probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ccer1 T C 10: 97,530,401 (GRCm39) F355L probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap299 T C 5: 98,646,240 (GRCm39) probably null Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Pla2g12b G T 10: 59,252,239 (GRCm39) A37S probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null Het
Other mutations in Adam4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Adam4 APN 12 81,467,423 (GRCm39) missense probably damaging 0.96
IGL01636:Adam4 APN 12 81,466,723 (GRCm39) missense possibly damaging 0.81
IGL02133:Adam4 APN 12 81,466,803 (GRCm39) missense probably benign 0.37
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 2013-06-21