Incidental Mutation 'IGL02655:Adam7'
ID302320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam7
Ensembl Gene ENSMUSG00000022056
Gene Namea disintegrin and metallopeptidase domain 7
SynonymsEAP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02655
Quality Score
Status
Chromosome14
Chromosomal Location68497336-68533741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68516611 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 346 (D346E)
Ref Sequence ENSEMBL: ENSMUSP00000022640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022640]
Predicted Effect probably damaging
Transcript: ENSMUST00000022640
AA Change: D346E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: D346E

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 25 156 1.6e-28 PFAM
Pfam:Reprolysin_5 197 378 1.2e-12 PFAM
Pfam:Reprolysin_4 197 382 2.6e-12 PFAM
Pfam:Reprolysin 199 393 1.3e-70 PFAM
Pfam:Reprolysin_2 219 383 1.1e-9 PFAM
Pfam:Reprolysin_3 223 346 9.5e-14 PFAM
DISIN 410 485 8.79e-30 SMART
ACR 486 623 3.51e-58 SMART
transmembrane domain 667 689 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik G A 1: 105,678,246 V204M probably damaging Het
4930402F06Rik A T 2: 35,380,486 S68T possibly damaging Het
4930544G11Rik T G 6: 65,953,090 V103G probably damaging Het
Adamts1 A G 16: 85,802,617 S32P probably benign Het
Adamtsl2 T C 2: 27,082,530 probably benign Het
Adgrb2 C A 4: 129,992,179 Y37* probably null Het
Apba3 A G 10: 81,272,954 R547G probably benign Het
Ccnd2 C T 6: 127,148,770 G101D probably damaging Het
Cpm A G 10: 117,683,281 T365A probably benign Het
Cpt2 A G 4: 107,907,427 V380A probably damaging Het
Dnah7b A T 1: 46,116,301 probably benign Het
Enpp1 A C 10: 24,677,974 D105E probably damaging Het
Ermp1 C A 19: 29,646,210 E127* probably null Het
Evi5 T C 5: 107,813,580 K375R probably benign Het
Gm11564 A T 11: 99,815,156 C149* probably null Het
Golgb1 A T 16: 36,918,080 E2260D probably damaging Het
Gpc2 T C 5: 138,278,925 D80G possibly damaging Het
Hsd11b2 A G 8: 105,522,328 I151V probably benign Het
Knl1 T C 2: 119,070,992 I1058T possibly damaging Het
Krtap4-8 A T 11: 99,780,628 probably benign Het
Me1 A G 9: 86,654,727 probably benign Het
Mki67 C T 7: 135,714,019 R38H probably damaging Het
Nsmaf A G 4: 6,424,933 F272L possibly damaging Het
Pcyox1 A T 6: 86,389,344 V78E probably damaging Het
Pkp1 G T 1: 135,889,773 T208N probably benign Het
Plagl2 T C 2: 153,232,417 E188G probably damaging Het
Pramef20 A G 4: 144,372,846 F450L probably benign Het
Ric1 T A 19: 29,595,451 S764T probably damaging Het
Sec24a G A 11: 51,734,655 T247M probably benign Het
Slc25a17 C T 15: 81,323,643 R248Q probably benign Het
Stk36 C T 1: 74,634,535 P1068S probably damaging Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Tfec C T 6: 16,834,309 A200T possibly damaging Het
Vmn2r4 A G 3: 64,398,465 I512T probably damaging Het
Other mutations in Adam7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Adam7 APN 14 68521938 missense possibly damaging 0.68
IGL01418:Adam7 APN 14 68525206 missense probably benign
IGL01934:Adam7 APN 14 68532599 missense probably damaging 1.00
IGL02669:Adam7 APN 14 68507894 missense probably damaging 1.00
PIT4445001:Adam7 UTSW 14 68509748 missense possibly damaging 0.88
R0195:Adam7 UTSW 14 68527627 splice site probably benign
R0277:Adam7 UTSW 14 68510857 splice site probably null
R0362:Adam7 UTSW 14 68509656 splice site probably benign
R0440:Adam7 UTSW 14 68510856 splice site probably null
R0927:Adam7 UTSW 14 68516684 missense probably damaging 1.00
R1172:Adam7 UTSW 14 68514921 missense probably damaging 1.00
R1270:Adam7 UTSW 14 68527669 missense probably damaging 0.98
R1299:Adam7 UTSW 14 68526299 splice site probably benign
R1527:Adam7 UTSW 14 68501521 missense probably benign 0.04
R1543:Adam7 UTSW 14 68521922 splice site probably benign
R1731:Adam7 UTSW 14 68525356 missense probably damaging 1.00
R1732:Adam7 UTSW 14 68498450 missense probably benign 0.00
R1921:Adam7 UTSW 14 68512625 missense possibly damaging 0.55
R2062:Adam7 UTSW 14 68505161 missense probably benign 0.09
R2156:Adam7 UTSW 14 68511343 missense probably benign 0.02
R2353:Adam7 UTSW 14 68505088 missense probably benign 0.01
R2697:Adam7 UTSW 14 68514783 nonsense probably null
R4080:Adam7 UTSW 14 68520539 missense probably benign 0.05
R4775:Adam7 UTSW 14 68507912 missense probably benign 0.41
R5202:Adam7 UTSW 14 68507856 missense possibly damaging 0.92
R6006:Adam7 UTSW 14 68511396 missense probably damaging 1.00
R6087:Adam7 UTSW 14 68510757 missense probably damaging 1.00
R6376:Adam7 UTSW 14 68505097 missense possibly damaging 0.78
R6417:Adam7 UTSW 14 68504621 missense probably benign 0.37
R6672:Adam7 UTSW 14 68504702 critical splice acceptor site probably null
R6756:Adam7 UTSW 14 68525279 missense probably benign 0.00
R6777:Adam7 UTSW 14 68525335 missense probably damaging 1.00
R6913:Adam7 UTSW 14 68533651 missense probably benign 0.22
R7127:Adam7 UTSW 14 68514769 critical splice donor site probably null
R7209:Adam7 UTSW 14 68529819 missense probably damaging 1.00
R7399:Adam7 UTSW 14 68504466 intron probably null
R7675:Adam7 UTSW 14 68499853 missense probably benign 0.07
R7788:Adam7 UTSW 14 68512645 missense possibly damaging 0.62
R7868:Adam7 UTSW 14 68532641 missense possibly damaging 0.84
R7951:Adam7 UTSW 14 68532641 missense possibly damaging 0.84
Z1176:Adam7 UTSW 14 68527701 missense probably benign 0.26
Posted On2015-04-16