Incidental Mutation 'R1173:Adam30'
ID 99658
Institutional Source Beutler Lab
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
MMRRC Submission 039246-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1173 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 98067950-98071485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98070222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 685 (S685N)
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: S685N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: S685N

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Amz1 A T 5: 140,737,691 (GRCm39) probably null Het
Anapc5 G A 5: 122,926,481 (GRCm39) A619V possibly damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bbox1 T C 2: 110,095,956 (GRCm39) D336G probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bpi A T 2: 158,109,660 (GRCm39) I203F probably benign Het
Cd151 A C 7: 141,050,569 (GRCm39) T241P probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cdh23 G A 10: 60,148,171 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dclre1b A C 3: 103,711,192 (GRCm39) S240A probably benign Het
Ddc A C 11: 11,796,634 (GRCm39) probably null Het
Dkk1 T C 19: 30,524,650 (GRCm39) R252G probably damaging Het
Dmrtc2 T A 7: 24,573,738 (GRCm39) M191K possibly damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Emx1 T C 6: 85,165,353 (GRCm39) probably benign Het
Fah T C 7: 84,250,344 (GRCm39) M1V probably null Het
Fmo6 A T 1: 162,753,710 (GRCm39) M144K probably damaging Het
Frem1 A G 4: 82,868,589 (GRCm39) V1445A probably benign Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gfm2 A G 13: 97,301,708 (GRCm39) probably null Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm19965 T A 1: 116,748,550 (GRCm39) probably benign Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Htra4 T C 8: 25,520,635 (GRCm39) D342G possibly damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Impdh2 T C 9: 108,439,028 (GRCm39) F99S probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Kazn A T 4: 141,886,349 (GRCm39) probably benign Het
Kcnq3 T A 15: 65,871,891 (GRCm39) T593S probably benign Het
Lamc1 T C 1: 153,122,977 (GRCm39) probably benign Het
Magi3 A G 3: 103,968,946 (GRCm39) probably null Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Meox2 T C 12: 37,159,151 (GRCm39) C108R possibly damaging Het
Nlrp9c C A 7: 26,079,860 (GRCm39) C722F probably damaging Het
Or2a5 T C 6: 42,874,285 (GRCm39) V300A probably benign Het
Pde10a C T 17: 9,139,378 (GRCm39) probably benign Het
Ppfia4 A G 1: 134,260,021 (GRCm39) probably benign Het
Psg18 T C 7: 18,088,742 (GRCm39) M1V probably null Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Retsat T C 6: 72,580,634 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Sfswap G A 5: 129,584,207 (GRCm39) probably null Het
Slc16a7 A T 10: 125,067,241 (GRCm39) L133I possibly damaging Het
Slc30a3 A T 5: 31,244,154 (GRCm39) M376K probably damaging Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Srbd1 C T 17: 86,405,940 (GRCm39) C620Y probably null Het
Trip10 T A 17: 57,560,363 (GRCm39) L100Q probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn1r123 C T 7: 20,896,257 (GRCm39) P50S probably damaging Het
Vmn1r158 T A 7: 22,489,870 (GRCm39) H113L probably benign Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Zbtb32 T A 7: 30,290,692 (GRCm39) E201V possibly damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zmynd11 T A 13: 9,739,585 (GRCm39) H437L probably damaging Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Adam30 APN 3 98,069,486 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers
Posted On 2014-01-15