Incidental Mutation 'R6338:Adam30'
ID 514312
Institutional Source Beutler Lab
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 98160630-98164169 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98161541 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 102 (I102S)
Ref Sequence ENSEMBL: ENSMUSP00000142590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]
AlphaFold Q811Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000050342
AA Change: I230S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: I230S

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 damaging
Transcript: ENSMUST00000198363
AA Change: I102S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468
AA Change: I102S

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
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 T C 7: 98,257,715 Y128C probably damaging Het
Adcy8 A T 15: 64,920,617 D163E possibly damaging Het
Agrn C T 4: 156,170,585 E1614K probably benign Het
Aldh16a1 A T 7: 45,141,961 W107R probably damaging Het
Arfgef2 A G 2: 166,845,570 D238G probably damaging Het
Arhgap11a T C 2: 113,833,725 S738G probably benign Het
Arid5b C A 10: 68,098,561 G504* probably null Het
Carmil3 T C 14: 55,499,849 V763A possibly damaging Het
Cd209e T A 8: 3,849,154 D186V probably damaging Het
Cdh23 T C 10: 60,413,151 D882G probably damaging Het
Cdh4 T C 2: 179,890,812 V689A probably damaging Het
Cntn6 T A 6: 104,726,139 V174E probably damaging Het
Col7a1 C T 9: 108,956,633 T390M unknown Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Csmd1 T G 8: 15,932,492 K2725T possibly damaging Het
Dnaaf2 T C 12: 69,198,122 E55G probably damaging Het
Fam13a A G 6: 58,953,499 V476A probably damaging Het
Fem1b A T 9: 62,797,011 D322E probably benign Het
Frmpd1 G A 4: 45,274,489 V466I probably benign Het
Gm11639 C T 11: 104,843,208 R2027* probably null Het
Gm20671 A T 5: 32,820,647 D1794E probably damaging Het
Gpatch2 G T 1: 187,225,514 R22L probably damaging Het
Gtf2h1 A G 7: 46,816,456 T450A probably benign Het
Kcnc2 G C 10: 112,271,856 G51R probably benign Het
Krit1 T G 5: 3,836,857 M702R probably benign Het
Krt34 T C 11: 100,038,490 N298S probably benign Het
Lrrcc1 T A 3: 14,547,316 N376K possibly damaging Het
Myo15 A G 11: 60,478,133 E573G probably damaging Het
Olfr1224-ps1 T A 2: 89,156,371 K268I probably damaging Het
Olfr1390 A G 11: 49,340,867 S112G probably benign Het
Olfr366 A T 2: 37,219,822 D111V probably damaging Het
Olfr391-ps A T 11: 73,799,319 L146Q possibly damaging Het
Olfr661 T A 7: 104,688,171 V52E possibly damaging Het
Olfr736 T A 14: 50,393,400 F215I possibly damaging Het
Phf20 A T 2: 156,273,686 Q309L possibly damaging Het
Plcd1 G A 9: 119,074,991 R292C probably damaging Het
Pold3 A G 7: 100,088,105 V342A possibly damaging Het
Polr2a A T 11: 69,739,679 probably null Het
Ptprcap A G 19: 4,156,224 E102G probably benign Het
Rab11fip5 T C 6: 85,341,378 E843G possibly damaging Het
Rai14 T C 15: 10,574,976 D632G probably damaging Het
Rnf149 A T 1: 39,560,742 C268S probably null Het
Slc6a13 T A 6: 121,334,839 F392I probably damaging Het
Slc7a11 C T 3: 50,384,043 probably null Het
Slf1 T A 13: 77,084,462 probably null Het
Stard9 G A 2: 120,697,485 V1408I probably benign Het
Suclg1 T C 6: 73,264,246 I183T probably damaging Het
Syne1 T C 10: 5,255,475 E3497G probably benign Het
Tax1bp1 C T 6: 52,729,376 R121* probably null Het
Tdpoz2 C T 3: 93,652,336 V110I probably benign Het
Ubn2 A G 6: 38,490,714 T788A probably benign Het
Unc13c T A 9: 73,734,447 I1255F probably damaging Het
Usp44 G T 10: 93,846,513 R275I probably damaging Het
Uspl1 A G 5: 149,215,034 N1015D probably benign Het
Wbp2nl G T 15: 82,299,045 W13C possibly damaging Het
Zc3h14 T A 12: 98,758,590 D170E possibly damaging Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Adam30 APN 3 98162170 missense probably benign 0.01
IGL01630:Adam30 APN 3 98161855 missense possibly damaging 0.83
IGL01825:Adam30 APN 3 98161901 missense probably damaging 0.96
IGL02033:Adam30 APN 3 98161471 missense probably benign 0.13
IGL03157:Adam30 APN 3 98162296 missense possibly damaging 0.85
IGL03330:Adam30 APN 3 98162456 missense probably damaging 1.00
R0512:Adam30 UTSW 3 98162125 missense probably damaging 1.00
R1082:Adam30 UTSW 3 98162290 missense probably benign 0.30
R1173:Adam30 UTSW 3 98162906 missense probably benign 0.07
R1463:Adam30 UTSW 3 98162525 missense probably damaging 1.00
R1771:Adam30 UTSW 3 98161519 missense possibly damaging 0.94
R1862:Adam30 UTSW 3 98162113 nonsense probably null
R3442:Adam30 UTSW 3 98162570 missense probably benign 0.35
R4125:Adam30 UTSW 3 98161363 missense probably damaging 1.00
R4714:Adam30 UTSW 3 98162854 missense probably damaging 1.00
R4816:Adam30 UTSW 3 98162745 missense possibly damaging 0.68
R5447:Adam30 UTSW 3 98161343 missense probably benign 0.09
R5958:Adam30 UTSW 3 98161964 missense probably damaging 1.00
R6175:Adam30 UTSW 3 98162950 missense probably damaging 1.00
R6220:Adam30 UTSW 3 98161309 missense probably damaging 0.98
R6365:Adam30 UTSW 3 98161034 missense probably damaging 0.99
R6998:Adam30 UTSW 3 98162710 missense probably benign 0.03
R7086:Adam30 UTSW 3 98161319 missense probably damaging 1.00
R7290:Adam30 UTSW 3 98162941 missense probably benign 0.00
R7340:Adam30 UTSW 3 98162321 missense probably benign 0.14
R8181:Adam30 UTSW 3 98162975 missense probably benign
R8725:Adam30 UTSW 3 98163032 missense possibly damaging 0.96
R8727:Adam30 UTSW 3 98163032 missense possibly damaging 0.96
R8913:Adam30 UTSW 3 98161264 missense possibly damaging 0.68
R8977:Adam30 UTSW 3 98162062 missense probably damaging 0.98
R9008:Adam30 UTSW 3 98162718 nonsense probably null
R9126:Adam30 UTSW 3 98160991 missense probably benign 0.00
R9181:Adam30 UTSW 3 98162878 missense probably benign 0.05
R9274:Adam30 UTSW 3 98161951 missense probably benign 0.06
R9338:Adam30 UTSW 3 98162813 missense probably damaging 1.00
R9636:Adam30 UTSW 3 98160996 missense probably benign 0.06
R9640:Adam30 UTSW 3 98162304 missense probably damaging 1.00
R9651:Adam30 UTSW 3 98162620 missense possibly damaging 0.92
Z1176:Adam30 UTSW 3 98162360 missense possibly damaging 0.92
Z1177:Adam30 UTSW 3 98160979 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCGAACACGTGGTGTATCTC -3'
(R):5'- CCGGTGATGCATTGAGTTTC -3'

Sequencing Primer
(F):5'- CGAACACGTGGTGTATCTCGTAAC -3'
(R):5'- CTTTTGTAATGCACGAATTGACC -3'
Posted On 2018-04-27