Incidental Mutation 'IGL02966:Adam18'
ID 365617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam18
Ensembl Gene ENSMUSG00000031552
Gene Name a disintegrin and metallopeptidase domain 18
Synonyms Dtgn3, Adam27
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02966
Quality Score
Status
Chromosome 8
Chromosomal Location 25092262-25164771 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 25101165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]
AlphaFold Q9R157
Predicted Effect probably benign
Transcript: ENSMUST00000033957
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552

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 probably benign
Transcript: ENSMUST00000138232
Predicted Effect probably benign
Transcript: ENSMUST00000173833
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Chat C T 14: 32,170,903 (GRCm39) V199M probably damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Enpp1 T A 10: 24,536,172 (GRCm39) E409D probably damaging Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nid1 A G 13: 13,656,806 (GRCm39) I646V probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Or8b12b T G 9: 37,684,882 (GRCm39) L309R probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sugp1 T C 8: 70,523,758 (GRCm39) probably benign Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly damaging Het
Other mutations in Adam18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Adam18 APN 8 25,118,149 (GRCm39) missense probably damaging 1.00
IGL01649:Adam18 APN 8 25,104,912 (GRCm39) missense possibly damaging 0.82
IGL02212:Adam18 APN 8 25,127,195 (GRCm39) missense probably benign 0.02
IGL02455:Adam18 APN 8 25,141,864 (GRCm39) missense probably damaging 0.96
IGL02525:Adam18 APN 8 25,131,783 (GRCm39) splice site probably benign
IGL02525:Adam18 APN 8 25,101,060 (GRCm39) missense probably benign 0.00
IGL03136:Adam18 APN 8 25,131,852 (GRCm39) missense probably damaging 1.00
G5030:Adam18 UTSW 8 25,141,872 (GRCm39) missense probably benign 0.24
R0135:Adam18 UTSW 8 25,155,558 (GRCm39) missense possibly damaging 0.71
R0280:Adam18 UTSW 8 25,164,070 (GRCm39) missense probably benign 0.06
R0389:Adam18 UTSW 8 25,119,653 (GRCm39) splice site probably null
R0390:Adam18 UTSW 8 25,164,070 (GRCm39) missense probably benign 0.06
R0443:Adam18 UTSW 8 25,119,653 (GRCm39) splice site probably null
R0479:Adam18 UTSW 8 25,141,838 (GRCm39) missense probably benign
R0578:Adam18 UTSW 8 25,131,863 (GRCm39) missense possibly damaging 0.82
R0645:Adam18 UTSW 8 25,162,136 (GRCm39) nonsense probably null
R0881:Adam18 UTSW 8 25,162,159 (GRCm39) splice site probably benign
R0885:Adam18 UTSW 8 25,141,802 (GRCm39) missense probably damaging 1.00
R0973:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R0973:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R0974:Adam18 UTSW 8 25,137,869 (GRCm39) missense probably benign 0.01
R1005:Adam18 UTSW 8 25,155,530 (GRCm39) missense probably benign 0.05
R1356:Adam18 UTSW 8 25,158,611 (GRCm39) splice site probably benign
R1510:Adam18 UTSW 8 25,115,847 (GRCm39) missense probably benign 0.01
R1552:Adam18 UTSW 8 25,136,377 (GRCm39) missense probably benign
R1568:Adam18 UTSW 8 25,137,799 (GRCm39) splice site probably null
R1639:Adam18 UTSW 8 25,142,168 (GRCm39) missense probably benign 0.00
R1968:Adam18 UTSW 8 25,136,463 (GRCm39) missense probably benign 0.32
R2029:Adam18 UTSW 8 25,140,893 (GRCm39) missense probably damaging 1.00
R2058:Adam18 UTSW 8 25,162,082 (GRCm39) splice site probably benign
R2211:Adam18 UTSW 8 25,118,171 (GRCm39) missense probably damaging 0.96
R2237:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2238:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2239:Adam18 UTSW 8 25,136,303 (GRCm39) missense probably benign 0.01
R2518:Adam18 UTSW 8 25,127,157 (GRCm39) missense probably damaging 1.00
R3122:Adam18 UTSW 8 25,118,248 (GRCm39) missense possibly damaging 0.74
R3426:Adam18 UTSW 8 25,157,620 (GRCm39) missense probably damaging 1.00
R3428:Adam18 UTSW 8 25,157,620 (GRCm39) missense probably damaging 1.00
R3967:Adam18 UTSW 8 25,119,726 (GRCm39) missense probably benign 0.12
R4833:Adam18 UTSW 8 25,164,117 (GRCm39) missense probably benign 0.01
R4965:Adam18 UTSW 8 25,131,827 (GRCm39) missense probably damaging 1.00
R5249:Adam18 UTSW 8 25,115,868 (GRCm39) missense probably benign 0.00
R5534:Adam18 UTSW 8 25,155,530 (GRCm39) missense probably benign 0.05
R5920:Adam18 UTSW 8 25,164,091 (GRCm39) missense probably damaging 1.00
R6329:Adam18 UTSW 8 25,104,843 (GRCm39) missense probably damaging 1.00
R6450:Adam18 UTSW 8 25,119,691 (GRCm39) missense probably benign 0.05
R6479:Adam18 UTSW 8 25,119,681 (GRCm39) missense probably benign 0.29
R6516:Adam18 UTSW 8 25,164,703 (GRCm39) missense probably damaging 1.00
R6603:Adam18 UTSW 8 25,155,518 (GRCm39) missense possibly damaging 0.63
R7194:Adam18 UTSW 8 25,141,868 (GRCm39) missense possibly damaging 0.67
R7226:Adam18 UTSW 8 25,137,824 (GRCm39) missense probably damaging 1.00
R7266:Adam18 UTSW 8 25,157,639 (GRCm39) missense probably benign 0.00
R7397:Adam18 UTSW 8 25,136,321 (GRCm39) missense possibly damaging 0.48
R7575:Adam18 UTSW 8 25,115,873 (GRCm39) missense possibly damaging 0.50
R7786:Adam18 UTSW 8 25,101,134 (GRCm39) missense probably benign 0.00
R7872:Adam18 UTSW 8 25,101,116 (GRCm39) missense probably benign 0.00
R8069:Adam18 UTSW 8 25,118,246 (GRCm39) missense possibly damaging 0.96
R8411:Adam18 UTSW 8 25,142,143 (GRCm39) missense probably damaging 1.00
R8713:Adam18 UTSW 8 25,142,189 (GRCm39) missense probably benign 0.22
R8785:Adam18 UTSW 8 25,140,911 (GRCm39) missense probably damaging 0.97
R8803:Adam18 UTSW 8 25,137,878 (GRCm39) missense probably benign 0.02
R8882:Adam18 UTSW 8 25,136,438 (GRCm39) missense probably benign 0.25
R8944:Adam18 UTSW 8 25,164,703 (GRCm39) missense probably damaging 1.00
R9000:Adam18 UTSW 8 25,127,162 (GRCm39) missense probably benign 0.27
R9184:Adam18 UTSW 8 25,137,847 (GRCm39) missense probably benign 0.22
R9258:Adam18 UTSW 8 25,158,574 (GRCm39) missense probably benign 0.05
R9306:Adam18 UTSW 8 25,136,420 (GRCm39) missense possibly damaging 0.74
R9377:Adam18 UTSW 8 25,104,859 (GRCm39) nonsense probably null
R9472:Adam18 UTSW 8 25,127,248 (GRCm39) missense probably benign 0.04
R9476:Adam18 UTSW 8 25,115,807 (GRCm39) missense probably benign 0.18
R9508:Adam18 UTSW 8 25,143,778 (GRCm39) missense possibly damaging 0.88
R9567:Adam18 UTSW 8 25,118,210 (GRCm39) missense probably benign 0.25
R9603:Adam18 UTSW 8 25,118,147 (GRCm39) missense possibly damaging 0.48
Posted On 2015-12-18