Incidental Mutation 'IGL00972:Adam4'
ID28783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam4
Ensembl Gene ENSMUSG00000072972
Gene Namea disintegrin and metallopeptidase domain 4
SynonymstMDCV
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL00972
Quality Score
Status
Chromosome12
Chromosomal Location81419443-81421946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81420649 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 399 (H399Q)
Ref Sequence ENSEMBL: ENSMUSP00000082427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
Predicted Effect probably damaging
Transcript: ENSMUST00000085319
AA Change: H399Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: H399Q

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,691 F23L probably damaging Het
Abcf3 A T 16: 20,551,684 M320L probably damaging Het
Ank1 A G 8: 23,141,644 K140E probably damaging Het
Atg2a G A 19: 6,254,599 C1162Y probably damaging Het
Atp2b1 T A 10: 99,015,044 I34N probably damaging Het
Bin1 A T 18: 32,424,834 E260V probably benign Het
Birc2 G A 9: 7,833,715 S255L probably benign Het
Cdc42bpa A G 1: 180,074,684 Q502R probably benign Het
Cep170 A G 1: 176,735,696 V1584A probably benign Het
Commd3 A T 2: 18,674,665 R120S probably benign Het
Cyp39a1 A T 17: 43,701,543 I304L probably benign Het
Cyp3a44 A T 5: 145,779,724 M352K possibly damaging Het
Dna2 T C 10: 62,950,823 Y117H probably benign Het
Dnah6 A G 6: 73,083,157 probably benign Het
Dsc1 G A 18: 20,088,363 P685L probably benign Het
Efna5 T A 17: 62,613,379 I168L possibly damaging Het
Ephx1 A G 1: 180,999,800 F96S probably benign Het
Fig4 A T 10: 41,251,788 I560K probably damaging Het
Fktn T A 4: 53,734,992 I210N probably damaging Het
Fmnl1 T C 11: 103,180,955 V96A probably damaging Het
Gabra1 T G 11: 42,133,626 E407D probably benign Het
Gm5277 A T 3: 78,892,286 noncoding transcript Het
H2-M10.5 A T 17: 36,773,335 E63V possibly damaging Het
Icam5 T A 9: 21,034,697 V275E probably damaging Het
Kel G A 6: 41,688,066 A588V possibly damaging Het
Klra5 T A 6: 129,906,605 E96D probably damaging Het
Limd1 C T 9: 123,480,076 T280I probably benign Het
Mul1 C A 4: 138,438,317 S95* probably null Het
Nlrp4a T C 7: 26,457,048 S733P probably benign Het
Ntn1 T A 11: 68,213,272 I517F possibly damaging Het
Ntrk3 T A 7: 78,247,322 M656L possibly damaging Het
Oacyl T G 18: 65,725,501 L226R possibly damaging Het
Olfr1314 A T 2: 112,092,094 N202K probably damaging Het
Olfr1378 A T 11: 50,969,119 M34L probably benign Het
Olfr199 A G 16: 59,216,466 I49T probably damaging Het
Pibf1 T A 14: 99,179,449 L486* probably null Het
Pla2g4c A G 7: 13,340,658 Y253C probably benign Het
Rims3 C A 4: 120,891,386 A268E probably benign Het
Rpl12 T C 2: 32,963,747 I129T probably benign Het
Rsl1 A T 13: 67,181,798 K103N probably benign Het
Scn11a A T 9: 119,793,938 W612R probably benign Het
Sdk2 G A 11: 113,854,384 T695M possibly damaging Het
Slc17a1 T A 13: 23,878,454 probably benign Het
Stam A T 2: 14,115,968 probably benign Het
Tacr3 T G 3: 134,932,355 N424K probably benign Het
Tas1r2 C T 4: 139,660,036 R240W probably damaging Het
Tle1 T C 4: 72,122,400 R648G probably damaging Het
Tmem92 T C 11: 94,782,428 D3G possibly damaging Het
Trip11 T C 12: 101,894,337 I250V probably null Het
Tspan8 C T 10: 115,844,139 probably benign Het
Vmn1r128 A G 7: 21,350,076 E235G probably benign Het
Vmn1r220 A G 13: 23,184,388 L46P probably damaging Het
Vmn2r9 T C 5: 108,849,037 E122G probably benign Het
Zfp27 A T 7: 29,894,958 N527K probably damaging Het
Other mutations in Adam4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Adam4 APN 12 81421446 missense possibly damaging 0.53
IGL01636:Adam4 APN 12 81419949 missense possibly damaging 0.81
IGL02133:Adam4 APN 12 81420029 missense probably benign 0.37
IGL02137:Adam4 APN 12 81421103 missense possibly damaging 0.91
IGL02425:Adam4 APN 12 81421328 missense probably benign 0.07
IGL02686:Adam4 APN 12 81421674 missense possibly damaging 0.88
R0554:Adam4 UTSW 12 81421424 missense probably damaging 1.00
R0684:Adam4 UTSW 12 81419654 missense probably damaging 1.00
R1519:Adam4 UTSW 12 81420877 missense possibly damaging 0.67
R1636:Adam4 UTSW 12 81419690 missense probably damaging 0.98
R1795:Adam4 UTSW 12 81421294 missense probably benign 0.03
R1835:Adam4 UTSW 12 81419559 missense probably benign 0.00
R2158:Adam4 UTSW 12 81421763 missense probably damaging 1.00
R2393:Adam4 UTSW 12 81420711 missense probably benign 0.02
R2923:Adam4 UTSW 12 81420744 missense probably damaging 1.00
R3411:Adam4 UTSW 12 81419822 missense possibly damaging 0.64
R4159:Adam4 UTSW 12 81420032 missense probably damaging 0.99
R4509:Adam4 UTSW 12 81421747 nonsense probably null
R4673:Adam4 UTSW 12 81421761 missense possibly damaging 0.56
R4794:Adam4 UTSW 12 81421424 missense probably damaging 0.99
R5564:Adam4 UTSW 12 81419574 missense probably benign 0.00
R5774:Adam4 UTSW 12 81420686 missense probably damaging 1.00
R6054:Adam4 UTSW 12 81420054 missense probably damaging 0.99
R6722:Adam4 UTSW 12 81421454 missense probably damaging 1.00
R6857:Adam4 UTSW 12 81419949 missense possibly damaging 0.81
R7316:Adam4 UTSW 12 81419724 missense probably benign 0.08
R7393:Adam4 UTSW 12 81419660 missense probably benign 0.01
R7649:Adam4 UTSW 12 81420377 missense probably damaging 1.00
Posted On2013-04-17