Incidental Mutation 'IGL02525:Adam18'
ID297080
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 #IGL02525
Quality Score
Status
Chromosome8
Chromosomal Location24602246-24674755 bp(-) (GRCm38)
Type of Mutationunclassified (10 bp from exon)
DNA Base Change (assembly) A to G at 24641767 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000173833]
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: 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,283,078 probably null Het
Adgrf5 G T 17: 43,449,963 V850F probably damaging Het
Agap2 T A 10: 127,083,201 probably null Het
Ap4b1 G A 3: 103,812,848 R137K probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Ccdc12 T A 9: 110,711,101 D120E probably damaging Het
Ccdc22 A G X: 7,595,010 S529P probably damaging Het
Col1a2 A G 6: 4,531,355 probably benign Het
Ddx59 A T 1: 136,417,005 Q138L probably benign Het
Dlc1 A T 8: 36,579,646 F1091L probably damaging Het
Dnah1 C T 14: 31,305,833 V682M probably benign Het
Dock9 C T 14: 121,640,126 D404N probably damaging Het
Eif2b4 A G 5: 31,189,618 V402A probably damaging Het
Erlin1 T C 19: 44,039,195 H268R probably benign Het
Ermard T C 17: 15,059,339 probably benign Het
Fam43a A G 16: 30,600,778 K60R probably benign Het
Frmd4b T A 6: 97,412,533 D78V probably damaging Het
Gabrq A G X: 72,836,824 T308A possibly damaging Het
Gipr A G 7: 19,159,765 C328R possibly damaging Het
Gm17078 T C 14: 51,611,223 N19S possibly damaging Het
Gm17541 T C 12: 4,689,907 Y7C probably benign Het
Gm21759 T C 5: 8,179,967 probably benign Het
Gm7964 A G 7: 83,756,042 noncoding transcript Het
Gspt1 A G 16: 11,230,990 V319A probably damaging Het
Gtf2ird2 A G 5: 134,216,477 S526G probably benign Het
Hey2 A G 10: 30,842,647 M1T probably null Het
Hipk3 T C 2: 104,471,412 D145G probably damaging Het
Ick A G 9: 78,160,393 K390E probably benign Het
Itgae A G 11: 73,130,951 D886G probably damaging Het
Ktn1 T A 14: 47,724,743 probably null Het
Med12l A G 3: 59,068,368 K239R probably benign Het
Milr1 A T 11: 106,765,275 M124L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mterf1a G A 5: 3,891,583 S95F probably benign Het
Myef2 C A 2: 125,114,058 probably benign Het
Nfrkb T A 9: 31,414,516 I1085N possibly damaging Het
Olfr275 A T 4: 52,825,616 Y73F probably damaging Het
Olfr924 T A 9: 38,848,240 M42K possibly damaging Het
Prodh G A 16: 18,072,468 Q532* probably null Het
Pstk G T 7: 131,371,193 R7L probably benign Het
Ptgr1 C A 4: 58,978,067 E108D probably benign Het
Ptpn9 T A 9: 57,036,725 Y294* probably null Het
Rnls C T 19: 33,138,214 V271M possibly damaging Het
Ros1 T C 10: 52,116,042 T1362A possibly damaging Het
Samt3 G A X: 86,046,921 A140T possibly damaging Het
Sbpl T A 17: 23,954,863 M16L unknown Het
Sephs1 G A 2: 4,906,596 C327Y probably damaging Het
Slc13a1 A T 6: 24,137,136 I93N probably damaging Het
Slc34a1 T C 13: 55,403,238 probably benign Het
Slc7a9 T C 7: 35,453,435 S93P probably damaging Het
Slx4 A G 16: 3,980,597 S1444P probably damaging Het
Stk32b C T 5: 37,531,633 V116M probably damaging Het
Supt5 A G 7: 28,318,947 probably benign Het
Syne2 T A 12: 76,101,003 S6439T probably damaging Het
Taar7d A G 10: 24,028,096 D292G possibly damaging Het
Tal2 A T 4: 53,785,971 I51F probably damaging Het
Thegl T A 5: 77,016,553 D134E probably benign Het
Tk2 A T 8: 104,243,400 N77K probably benign Het
Tmprss3 T A 17: 31,194,891 probably benign Het
Tnfrsf10b T C 14: 69,782,376 M319T probably damaging Het
Trim24 A G 6: 37,945,718 R487G probably damaging Het
Ttn C A 2: 76,764,314 G20463* probably null Het
Vmn2r102 A G 17: 19,681,185 T525A probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt3 C T 11: 103,812,470 R260W probably damaging Het
Xdh T A 17: 73,924,995 Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 T218A probably benign Het
Znfx1 C T 2: 167,037,537 E776K probably benign 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
IGL02455:Adam18 APN 8 24651848 missense probably damaging 0.96
IGL02525:Adam18 APN 8 24611044 missense probably benign 0.00
IGL02966:Adam18 APN 8 24611149 unclassified 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