Incidental Mutation 'IGL02455:Adam18'
ID293821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam18
Ensembl Gene ENSMUSG00000031552
Gene Namea disintegrin and metallopeptidase domain 18
SynonymsAdam27, Dtgn3
Accession Numbers

Genbank: NM_010084

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02455
Quality Score
Status
Chromosome8
Chromosomal Location24602246-24674755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24651848 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 235 (D235G)
Ref Sequence ENSEMBL: ENSMUSP00000033957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000173833]
Predicted Effect probably damaging
Transcript: ENSMUST00000033957
AA Change: D235G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D235G

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 15 140 1.7e-25 PFAM
Pfam:Reprolysin 180 377 1.1e-57 PFAM
DISIN 396 474 1.03e-35 SMART
ACR 475 613 1.12e-51 SMART
transmembrane domain 684 703 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173833
AA Change: D235G

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: D235G

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 15 140 9.5e-35 PFAM
Pfam:Reprolysin 180 378 7.7e-56 PFAM
DISIN 396 474 1.03e-35 SMART
ACR 475 613 1.12e-51 SMART
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 expressed in a regulated fashion during early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,960,129 V479A probably damaging Het
Cdh22 T C 2: 165,142,255 N359S possibly damaging Het
Cebpz G T 17: 78,935,036 N396K probably benign Het
Celsr3 T A 9: 108,842,893 W2493R probably benign Het
Clca2 C T 3: 145,081,411 V500M probably benign Het
Clec4a4 A C 6: 123,013,780 N160H possibly damaging Het
Crb2 T C 2: 37,794,564 S1139P possibly damaging Het
Dnah8 T C 17: 30,672,334 I771T probably damaging Het
Etfbkmt C T 6: 149,147,226 A121V probably damaging Het
Fat4 T A 3: 38,951,131 L1893Q possibly damaging Het
Fbxw13 A T 9: 109,183,187 S188T probably benign Het
Fign T C 2: 63,980,497 D143G probably benign Het
Foxj3 C A 4: 119,620,237 H381N unknown Het
Gpr158 A T 2: 21,368,700 T149S probably benign Het
Ift74 C T 4: 94,635,831 Q195* probably null Het
Kif2c C A 4: 117,172,354 M143I probably benign Het
Kmt2b A G 7: 30,578,878 probably null Het
Krt84 C T 15: 101,525,735 R599H unknown Het
Ly6g6f C T 17: 35,082,890 R196H possibly damaging Het
Map4 C A 9: 109,999,833 N95K probably benign Het
Mrgprx3-ps T A 7: 47,309,515 noncoding transcript Het
Mroh9 T C 1: 163,075,580 M85V probably benign Het
Npffr2 T C 5: 89,568,135 I107T probably damaging Het
Nrcam T C 12: 44,570,530 V737A probably damaging Het
Olfr1141 A T 2: 87,753,583 S137T possibly damaging Het
Olfr851 C T 9: 19,497,263 Q172* probably null Het
Olfr976 T C 9: 39,956,902 E11G probably damaging Het
Oprm1 A G 10: 6,830,219 T294A probably damaging Het
Parvg A G 15: 84,330,082 R156G possibly damaging Het
Pclo T C 5: 14,540,175 S830P unknown Het
Pde11a T C 2: 76,158,393 D468G possibly damaging Het
Peak1 A T 9: 56,227,473 S195T possibly damaging Het
Pkhd1 A G 1: 20,364,201 Y2338H probably damaging Het
Ppp1r1b A T 11: 98,350,569 I28F probably damaging Het
Prpf8 A G 11: 75,509,258 Y2326C probably benign Het
Psmd1 T A 1: 86,078,580 L223I probably damaging Het
Runx3 T A 4: 135,175,530 Y310N probably damaging Het
Secisbp2l C T 2: 125,773,478 D76N possibly damaging Het
Slfn4 A T 11: 83,186,758 N124I probably damaging Het
Spata13 G A 14: 60,706,714 V519I probably benign Het
Ssh3 C T 19: 4,264,432 E365K probably damaging Het
Strc A G 2: 121,375,791 probably benign Het
Tdp2 T A 13: 24,841,262 I338N probably damaging Het
Vmn1r13 A T 6: 57,210,472 R205S probably damaging Het
Wdr19 G T 5: 65,224,759 A441S probably benign Het
Ylpm1 A G 12: 85,030,263 D796G probably damaging Het
Zbtb11 T C 16: 56,000,675 S712P probably damaging Het
Zcchc14 A G 8: 121,606,270 probably benign Het
Zfp608 T G 18: 54,899,333 S512R probably damaging Het
Other mutations in Adam18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Adam18 APN 8 24628133 missense probably damaging 1.00
IGL01649:Adam18 APN 8 24614896 missense possibly damaging 0.82
IGL02212:Adam18 APN 8 24637179 missense probably benign 0.02
IGL02525:Adam18 APN 8 24611044 missense probably benign 0.00
IGL02525:Adam18 APN 8 24641767 splice site probably benign
IGL02966:Adam18 APN 8 24611149 splice site probably benign
IGL03136:Adam18 APN 8 24641836 missense probably damaging 1.00
G5030:Adam18 UTSW 8 24651856 missense probably benign 0.24
R0135:Adam18 UTSW 8 24665542 missense possibly damaging 0.71
R0280:Adam18 UTSW 8 24674054 missense probably benign 0.06
R0389:Adam18 UTSW 8 24629637 splice site probably null
R0390:Adam18 UTSW 8 24674054 missense probably benign 0.06
R0443:Adam18 UTSW 8 24629637 splice site probably null
R0479:Adam18 UTSW 8 24651822 missense probably benign
R0578:Adam18 UTSW 8 24641847 missense possibly damaging 0.82
R0645:Adam18 UTSW 8 24672120 nonsense probably null
R0881:Adam18 UTSW 8 24672143 splice site probably benign
R0885:Adam18 UTSW 8 24651786 missense probably damaging 1.00
R0973:Adam18 UTSW 8 24647853 missense probably benign 0.01
R0973:Adam18 UTSW 8 24647853 missense probably benign 0.01
R0974:Adam18 UTSW 8 24647853 missense probably benign 0.01
R1005:Adam18 UTSW 8 24665514 missense probably benign 0.05
R1356:Adam18 UTSW 8 24668595 splice site probably benign
R1510:Adam18 UTSW 8 24625831 missense probably benign 0.01
R1552:Adam18 UTSW 8 24646361 missense probably benign
R1568:Adam18 UTSW 8 24647783 splice site probably null
R1639:Adam18 UTSW 8 24652152 missense probably benign 0.00
R1968:Adam18 UTSW 8 24646447 missense probably benign 0.32
R2029:Adam18 UTSW 8 24650877 missense probably damaging 1.00
R2058:Adam18 UTSW 8 24672066 splice site probably benign
R2211:Adam18 UTSW 8 24628155 missense probably damaging 0.96
R2237:Adam18 UTSW 8 24646287 missense probably benign 0.01
R2238:Adam18 UTSW 8 24646287 missense probably benign 0.01
R2239:Adam18 UTSW 8 24646287 missense probably benign 0.01
R2518:Adam18 UTSW 8 24637141 missense probably damaging 1.00
R3122:Adam18 UTSW 8 24628232 missense possibly damaging 0.74
R3426:Adam18 UTSW 8 24667604 missense probably damaging 1.00
R3428:Adam18 UTSW 8 24667604 missense probably damaging 1.00
R3967:Adam18 UTSW 8 24629710 missense probably benign 0.12
R4833:Adam18 UTSW 8 24674101 missense probably benign 0.01
R4965:Adam18 UTSW 8 24641811 missense probably damaging 1.00
R5249:Adam18 UTSW 8 24625852 missense probably benign 0.00
R5534:Adam18 UTSW 8 24665514 missense probably benign 0.05
R5920:Adam18 UTSW 8 24674075 missense probably damaging 1.00
R6329:Adam18 UTSW 8 24614827 missense probably damaging 1.00
R6450:Adam18 UTSW 8 24629675 missense probably benign 0.05
R6479:Adam18 UTSW 8 24629665 missense probably benign 0.29
R6516:Adam18 UTSW 8 24674687 missense probably damaging 1.00
R6603:Adam18 UTSW 8 24665502 missense possibly damaging 0.63
Posted On2015-04-16