Incidental Mutation 'R6722:Adam4'
ID 529653
Institutional Source Beutler Lab
Gene Symbol Adam4
Ensembl Gene ENSMUSG00000072972
Gene Name a disintegrin and metallopeptidase domain 4
Synonyms tMDCV
MMRRC Submission 044840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81466217-81468720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 81468228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 131 (D131A)
Ref Sequence ENSEMBL: ENSMUSP00000082427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold Q8CGQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000085319
AA Change: D131A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: D131A

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,085,617 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nt5c1b T A 12: 10,422,874 (GRCm39) Y56N possibly damaging Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4a G A 9: 21,122,521 (GRCm39) A806T probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pdx1 C T 5: 147,207,310 (GRCm39) P88S probably damaging Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Scml4 C T 10: 42,736,728 (GRCm39) probably benign Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGCTTGGTCTCTTCAG -3'
(R):5'- GCACATCACCTATAGCATGCG -3'

Sequencing Primer
(F):5'- TCAGAGAGGTCACCTGCCTTTG -3'
(R):5'- CATGCGCTTTAGGGGACAAAGAC -3'
Posted On 2018-08-01