Incidental Mutation 'IGL02425:Adam4'
ID292854
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: 0.059) question?
Stock #IGL02425
Quality Score
Status
Chromosome12
Chromosomal Location81419443-81421946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 81421328 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 173 (R173H)
Ref Sequence ENSEMBL: ENSMUSP00000082427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
Predicted Effect probably benign
Transcript: ENSMUST00000085319
AA Change: R173H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: R173H

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Adam4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Adam4 APN 12 81420649 missense probably damaging 0.96
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
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
R8245:Adam4 UTSW 12 81419883 missense probably damaging 1.00
R8293:Adam4 UTSW 12 81420411 nonsense probably null
Posted On2015-04-16