Mutagenetix > Incidental Mutations

Incidental Mutation 'R1356:Adam18'

156325

Institutional Source

Beutler Lab

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Adam27, Dtgn3

MMRRC Submission

039421-MU

Accession Numbers

Genbank: NM_010084

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24602246-24674755 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24668595 bp

Zygosity

Heterozygous

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

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 benign
Transcript: ENSMUST00000173833

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552

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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (34/34)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,302,953		probably benign	Het
Cd274	C	A	19: 29,373,570	T22K	possibly damaging	Het
Cfap45	G	A	1: 172,527,863	R26Q	possibly damaging	Het
Dvl3	AGCGGCGGCGGCGG	AGCGGCGGCGG	16: 20,524,305		probably benign	Het
E2f8	A	G	7: 48,880,270		probably benign	Het
Ercc4	A	G	16: 13,125,282	H255R	probably damaging	Het
Fam227b	C	T	2: 126,119,008	D234N	probably damaging	Het
Foxp1	A	T	6: 99,016,676		probably benign	Het
Fsip2	T	A	2: 82,989,745	V5274D	probably benign	Het
Gm21718	A	G	14: 51,316,647		noncoding transcript	Het
Gpr85	G	A	6: 13,836,147	P253S	probably benign	Het
Grm7	A	T	6: 111,359,024	I799F	probably damaging	Het
Inpp1	A	G	1: 52,797,056	F84L	possibly damaging	Het
Kprp	T	A	3: 92,825,602	E47V	probably damaging	Het
Krt9	CTGC	CTGCNNNNNNNNNNNNNNNNNNNNNTGC	11: 100,188,814		probably benign	Het
Lama3	G	A	18: 12,500,577		probably benign	Het
Lurap1l	C	G	4: 80,911,530	A59G	probably benign	Het
Macc1	A	T	12: 119,446,555	T353S	probably benign	Het
Mctp2	A	G	7: 72,164,723		probably benign	Het
Mdn1	T	C	4: 32,700,334		probably benign	Het
Mpeg1	T	A	19: 12,461,325	V49D	probably damaging	Het
Nos2	C	T	11: 78,952,803	P859S	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Parn	A	T	16: 13,650,674	Y214*	probably null	Het
Pibf1	A	G	14: 99,137,196	E357G	possibly damaging	Het
Prex2	C	T	1: 11,080,092	Q163*	probably null	Het
Prune2	T	A	19: 17,212,317	S294T	probably benign	Het
Slc46a1	A	G	11: 78,470,724	N399D	probably benign	Het
Sstr2	T	C	11: 113,624,894	F213S	probably damaging	Het
Tnxb	A	G	17: 34,695,472	E1967G	possibly damaging	Het
Vmn2r59	A	G	7: 42,011,794	*866Q	probably null	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCATTATGCTGTACATCCCCTTCAACA -3'
(R):5'- CTCAGATGAGGACCCATCAGGTGATA -3'

Sequencing Primer
(F):5'- GTACATCCCCTTCAACAATAAAAAAG -3'
(R):5'- TCATTGATAGCACCATCTCAGAG -3'

Posted On

2014-02-11