Incidental Mutation 'IGL00787:Adam30'
ID 12440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00787
Quality Score
Status
Chromosome 3
Chromosomal Location 98067950-98071485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98069486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 440 (S440T)
Ref Sequence ENSEMBL: ENSMUSP00000060505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]
AlphaFold Q811Q3
Predicted Effect probably benign
Transcript: ENSMUST00000050342
AA Change: S440T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: S440T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 36 159 5.7e-20 PFAM
low complexity region 176 187 N/A INTRINSIC
Pfam:Reprolysin 202 393 1.1e-31 PFAM
DISIN 407 482 1.6e-32 SMART
ACR 483 625 1.84e-52 SMART
transmembrane domain 690 712 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198363
SMART Domains Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468

DomainStartEndE-ValueType
low complexity region 48 59 N/A INTRINSIC
Pfam:Reprolysin_5 72 259 2.6e-6 PFAM
Pfam:Reprolysin 74 265 2.1e-29 PFAM
Pfam:Reprolysin_3 101 220 1.1e-4 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T G 5: 81,841,401 (GRCm39) N827K probably damaging Het
Ces1c A T 8: 93,846,994 (GRCm39) S87T possibly damaging Het
Ctdp1 C A 18: 80,501,907 (GRCm39) probably null Het
Cwh43 T A 5: 73,578,832 (GRCm39) F280I possibly damaging Het
Dcaf13 T A 15: 39,007,027 (GRCm39) Y320* probably null Het
Dgkh A C 14: 78,855,954 (GRCm39) probably benign Het
Dnah1 A T 14: 31,022,020 (GRCm39) V1161E possibly damaging Het
Gabrg2 T C 11: 41,803,349 (GRCm39) R399G probably benign Het
Gpr75 T A 11: 30,842,290 (GRCm39) F398L probably benign Het
Kif24 G A 4: 41,397,583 (GRCm39) T525I probably damaging Het
Kif5b A T 18: 6,226,973 (GRCm39) probably benign Het
Klc2 T G 19: 5,161,690 (GRCm39) E300A probably benign Het
Nol6 C T 4: 41,122,198 (GRCm39) V171I probably benign Het
Nop2 C T 6: 125,110,509 (GRCm39) S45L probably damaging Het
Polr3b A G 10: 84,512,854 (GRCm39) T579A probably benign Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Ugt2b37 T A 5: 87,390,288 (GRCm39) Y386F probably benign Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Adam30 APN 3 98,069,171 (GRCm39) missense possibly damaging 0.83
IGL01825:Adam30 APN 3 98,069,217 (GRCm39) missense probably damaging 0.96
IGL02033:Adam30 APN 3 98,068,787 (GRCm39) missense probably benign 0.13
IGL03157:Adam30 APN 3 98,069,612 (GRCm39) missense possibly damaging 0.85
IGL03330:Adam30 APN 3 98,069,772 (GRCm39) missense probably damaging 1.00
R0512:Adam30 UTSW 3 98,069,441 (GRCm39) missense probably damaging 1.00
R1082:Adam30 UTSW 3 98,069,606 (GRCm39) missense probably benign 0.30
R1173:Adam30 UTSW 3 98,070,222 (GRCm39) missense probably benign 0.07
R1463:Adam30 UTSW 3 98,069,841 (GRCm39) missense probably damaging 1.00
R1771:Adam30 UTSW 3 98,068,835 (GRCm39) missense possibly damaging 0.94
R1862:Adam30 UTSW 3 98,069,429 (GRCm39) nonsense probably null
R3442:Adam30 UTSW 3 98,069,886 (GRCm39) missense probably benign 0.35
R4125:Adam30 UTSW 3 98,068,679 (GRCm39) missense probably damaging 1.00
R4714:Adam30 UTSW 3 98,070,170 (GRCm39) missense probably damaging 1.00
R4816:Adam30 UTSW 3 98,070,061 (GRCm39) missense possibly damaging 0.68
R5447:Adam30 UTSW 3 98,068,659 (GRCm39) missense probably benign 0.09
R5958:Adam30 UTSW 3 98,069,280 (GRCm39) missense probably damaging 1.00
R6175:Adam30 UTSW 3 98,070,266 (GRCm39) missense probably damaging 1.00
R6220:Adam30 UTSW 3 98,068,625 (GRCm39) missense probably damaging 0.98
R6338:Adam30 UTSW 3 98,068,857 (GRCm39) missense probably damaging 1.00
R6365:Adam30 UTSW 3 98,068,350 (GRCm39) missense probably damaging 0.99
R6998:Adam30 UTSW 3 98,070,026 (GRCm39) missense probably benign 0.03
R7086:Adam30 UTSW 3 98,068,635 (GRCm39) missense probably damaging 1.00
R7290:Adam30 UTSW 3 98,070,257 (GRCm39) missense probably benign 0.00
R7340:Adam30 UTSW 3 98,069,637 (GRCm39) missense probably benign 0.14
R8181:Adam30 UTSW 3 98,070,291 (GRCm39) missense probably benign
R8725:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8727:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8913:Adam30 UTSW 3 98,068,580 (GRCm39) missense possibly damaging 0.68
R8977:Adam30 UTSW 3 98,069,378 (GRCm39) missense probably damaging 0.98
R9008:Adam30 UTSW 3 98,070,034 (GRCm39) nonsense probably null
R9126:Adam30 UTSW 3 98,068,307 (GRCm39) missense probably benign 0.00
R9181:Adam30 UTSW 3 98,070,194 (GRCm39) missense probably benign 0.05
R9274:Adam30 UTSW 3 98,069,267 (GRCm39) missense probably benign 0.06
R9338:Adam30 UTSW 3 98,070,129 (GRCm39) missense probably damaging 1.00
R9636:Adam30 UTSW 3 98,068,312 (GRCm39) missense probably benign 0.06
R9640:Adam30 UTSW 3 98,069,620 (GRCm39) missense probably damaging 1.00
R9651:Adam30 UTSW 3 98,069,936 (GRCm39) missense possibly damaging 0.92
Z1176:Adam30 UTSW 3 98,069,676 (GRCm39) missense possibly damaging 0.92
Z1177:Adam30 UTSW 3 98,068,295 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06