Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Adam18'

8567

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 #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

25092262-25164771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25118149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 41 (D41V)

Ref Sequence

ENSEMBL: ENSMUSP00000148259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]

AlphaFold

Q9R157

Predicted Effect

probably damaging
Transcript: ENSMUST00000033957
AA Change: D589V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D589V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000138232
AA Change: D41V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000173833
AA Change: D589V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: D589V

Domain	Start	End	E-Value	Type
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732463B04Rik	G	T	12: 84,090,578 (GRCm39)		probably benign	Het
Abcd1	T	C	X: 72,761,154 (GRCm39)	L173P	probably damaging	Het
Armh4	A	T	14: 50,010,460 (GRCm39)	S416T	probably damaging	Het
Aspa	T	G	11: 73,204,447 (GRCm39)		probably benign	Het
Cacna2d1	T	A	5: 16,451,654 (GRCm39)		probably benign	Het
Cracd	G	A	5: 77,013,903 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,283,229 (GRCm39)	I3570L	probably benign	Het
Cyp2j13	G	A	4: 95,950,275 (GRCm39)	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,129,513 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,407,414 (GRCm39)	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,589,028 (GRCm39)	A229T	possibly damaging	Het
Dst	A	T	1: 34,228,043 (GRCm39)	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,349,689 (GRCm39)	P554L	probably damaging	Het
Fcgbp	C	A	7: 27,774,511 (GRCm39)	C28*	probably null	Het
Gm773	T	C	X: 55,247,373 (GRCm39)	D53G	probably benign	Het
Hhat	A	G	1: 192,399,325 (GRCm39)	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,536,351 (GRCm39)	S310P	probably benign	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,944,570 (GRCm39)	D893G	probably benign	Het
Lama2	T	C	10: 27,119,738 (GRCm39)	T709A	probably benign	Het
Mcm8	G	A	2: 132,669,457 (GRCm39)	V281I	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nup133	T	G	8: 124,665,822 (GRCm39)	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,217,183 (GRCm39)	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,399,148 (GRCm39)	A224V	probably damaging	Het
Phf8-ps	T	A	17: 33,284,837 (GRCm39)	H655L	probably benign	Het
Pla2g4e	G	A	2: 120,015,719 (GRCm39)	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754 (GRCm38)	F118L	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Sphkap	A	G	1: 83,255,631 (GRCm39)	M706T	possibly damaging	Het
Tars3	T	C	7: 65,338,656 (GRCm39)	M689T	probably benign	Het
Trrap	T	C	5: 144,754,848 (GRCm39)	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,945,569 (GRCm39)	S203T	probably benign	Het
Txnrd1	T	G	10: 82,711,496 (GRCm39)	D42E	probably damaging	Het
Zswim8	G	A	14: 20,773,249 (GRCm39)	D1746N	probably damaging	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02966:Adam18	APN	8	25,101,165 (GRCm39)	splice site	probably benign
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

2012-12-06