Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01659:Adam32'

103118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam32

Ensembl Gene

ENSMUSG00000037437

Gene Name

a disintegrin and metallopeptidase domain 32

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01659

Quality Score

Status

Chromosome

Chromosomal Location

24836140-24948804 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 24870774 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438] [ENSMUST00000173069]

Predicted Effect

probably benign
Transcript: ENSMUST00000119720

SMART Domains

Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	145	4.5e-32	PFAM
Pfam:Reprolysin	187	384	4.1e-66	PFAM
Pfam:Reprolysin_3	211	318	6.2e-7	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121438

SMART Domains

Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	24	145	8.4e-26	PFAM
Pfam:Reprolysin	187	384	1.3e-68	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART
EGF	631	660	1.73e0	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	719	754	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140573

SMART Domains

Protein: ENSMUSP00000133843
Gene: ENSMUSG00000037437

Domain	Start	End	E-Value	Type
Blast:DISIN	2	22	5e-7	BLAST
Pfam:ADAM_CR	24	71	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173069

SMART Domains

Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437

Domain	Start	End	E-Value	Type
Blast:ACR	1	46	7e-25	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	G	8: 122,895,371	S581P	probably damaging	Het
Arl13b	T	C	16: 62,802,750	S370G	possibly damaging	Het
Cdr2	G	T	7: 120,958,549	A251E	probably damaging	Het
Clec4a4	A	T	6: 123,023,935	E202D	probably damaging	Het
Col14a1	T	A	15: 55,446,172		probably benign	Het
Dhfr	A	T	13: 92,355,670		probably null	Het
Flnc	A	G	6: 29,448,671	T1303A	probably damaging	Het
Mug1	A	T	6: 121,870,660		probably benign	Het
Napepld	A	G	5: 21,675,716	V227A	probably damaging	Het
Nf1	A	G	11: 79,559,449	E487G	probably benign	Het
Nlrp2	A	G	7: 5,328,035	L454P	probably damaging	Het
Olfr1049	A	T	2: 86,255,185	C169*	probably null	Het
Rad51	T	A	2: 119,118,702	I61K	probably benign	Het
Rfx8	A	T	1: 39,670,573	H431Q	probably damaging	Het
Sspo	A	G	6: 48,474,443	N2725S	probably damaging	Het
Trim16	A	G	11: 62,820,695	E64G	probably benign	Het
Zfp879	T	C	11: 50,838,454	Y39C	probably damaging	Het

Other mutations in Adam32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Adam32	APN	8	24921354	missense	probably damaging	1.00
IGL00793:Adam32	APN	8	24837830	splice site	probably benign
IGL01317:Adam32	APN	8	24872581	missense	probably damaging	1.00
IGL01475:Adam32	APN	8	24872648	missense	probably damaging	1.00
IGL01501:Adam32	APN	8	24914353	missense	probably damaging	1.00
IGL01994:Adam32	APN	8	24902796	splice site	probably benign
IGL02137:Adam32	APN	8	24872594	missense	probably damaging	1.00
IGL02393:Adam32	APN	8	24920053	missense	probably damaging	1.00
IGL02516:Adam32	APN	8	24898596	missense	probably damaging	1.00
IGL02892:Adam32	APN	8	24878711	intron	probably benign
IGL02929:Adam32	APN	8	24872643	missense	possibly damaging	0.81
IGL03273:Adam32	APN	8	24921340	missense	probably damaging	1.00
PIT4515001:Adam32	UTSW	8	24914326	missense	possibly damaging	0.88
R0088:Adam32	UTSW	8	24914067	missense	probably damaging	1.00
R0098:Adam32	UTSW	8	24914389	missense	possibly damaging	0.79
R0098:Adam32	UTSW	8	24914389	missense	possibly damaging	0.79
R0189:Adam32	UTSW	8	24922337	critical splice acceptor site	probably null
R1740:Adam32	UTSW	8	24921298	missense	probably damaging	1.00
R1853:Adam32	UTSW	8	24898626	missense	probably benign	0.02
R2090:Adam32	UTSW	8	24901440	critical splice donor site	probably null
R2906:Adam32	UTSW	8	24863504	missense	probably damaging	1.00
R2907:Adam32	UTSW	8	24863504	missense	probably damaging	1.00
R4304:Adam32	UTSW	8	24901529	missense	probably damaging	1.00
R4612:Adam32	UTSW	8	24872736	missense	probably damaging	1.00
R4673:Adam32	UTSW	8	24884455	missense	probably damaging	1.00
R4786:Adam32	UTSW	8	24863493	missense	probably damaging	1.00
R5292:Adam32	UTSW	8	24864451	missense	possibly damaging	0.85
R5398:Adam32	UTSW	8	24872579	missense	possibly damaging	0.95
R5524:Adam32	UTSW	8	24922312	missense	probably damaging	0.99
R5939:Adam32	UTSW	8	24914122	missense	probably damaging	1.00
R6350:Adam32	UTSW	8	24863429	missense	possibly damaging	0.86
R6766:Adam32	UTSW	8	24872630	missense	probably damaging	0.96
R6893:Adam32	UTSW	8	24878754	missense	probably damaging	1.00
R7095:Adam32	UTSW	8	24914070	missense	probably damaging	1.00
R7241:Adam32	UTSW	8	24898494	missense	probably benign	0.00
R7457:Adam32	UTSW	8	24884619	missense	probably damaging	0.98
R7864:Adam32	UTSW	8	24922276	missense	probably benign	0.11
R8083:Adam32	UTSW	8	24872736	missense	probably damaging	1.00
R8248:Adam32	UTSW	8	24901470	missense	possibly damaging	0.93
R8376:Adam32	UTSW	8	24919920	missense	possibly damaging	0.81
R8681:Adam32	UTSW	8	24837795	missense	unknown
Z1176:Adam32	UTSW	8	24948750	nonsense	probably null

Posted On

2014-01-21