Incidental Mutation 'IGL02212:Adam18'
ID285542
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 #IGL02212
Quality Score
Status
Chromosome8
Chromosomal Location24602246-24674755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24637179 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 467 (H467R)
Ref Sequence ENSEMBL: ENSMUSP00000133378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000173833]
Predicted Effect probably benign
Transcript: ENSMUST00000033957
AA Change: H467R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: H467R

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: ENSMUST00000173833
AA Change: H467R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: H467R

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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G 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
IGL02455:Adam18 APN 8 24651848 missense probably damaging 0.96
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
R7194:Adam18 UTSW 8 24651852 missense possibly damaging 0.67
R7226:Adam18 UTSW 8 24647808 missense probably damaging 1.00
R7266:Adam18 UTSW 8 24667623 missense probably benign 0.00
R7397:Adam18 UTSW 8 24646305 missense possibly damaging 0.48
Posted On2015-04-16