Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Ginm1'

19134

Institutional Source

Beutler Lab

Gene Symbol

Ginm1

Ensembl Gene

ENSMUSG00000040006

Gene Name

glycoprotein integral membrane 1

Synonyms

BC013529

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

7767947-7792824 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 7775374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039763] [ENSMUST00000124838]

AlphaFold

Q91WR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039763

SMART Domains

Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	260	282	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124447

Predicted Effect

probably benign
Transcript: ENSMUST00000124838

SMART Domains

Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180853

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Ginm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ginm1	APN	10	7792696	unclassified	probably benign
IGL02474:Ginm1	APN	10	7777768	splice site	probably benign
IGL02606:Ginm1	APN	10	7770399	missense	probably damaging	0.98
Juniper	UTSW	10	7779355	missense	probably damaging	1.00
R0010:Ginm1	UTSW	10	7775374	splice site	probably benign
R0052:Ginm1	UTSW	10	7779306	missense	possibly damaging	0.92
R0052:Ginm1	UTSW	10	7779306	missense	possibly damaging	0.92
R1901:Ginm1	UTSW	10	7775216	critical splice donor site	probably null
R2106:Ginm1	UTSW	10	7775326	missense	probably damaging	1.00
R5374:Ginm1	UTSW	10	7779314	missense	probably damaging	0.99
R5929:Ginm1	UTSW	10	7774050	missense	probably benign	0.16
R6062:Ginm1	UTSW	10	7775333	missense	probably benign	0.00
R6102:Ginm1	UTSW	10	7768496	missense	probably benign	0.00
R6792:Ginm1	UTSW	10	7773983	missense	probably damaging	1.00
R7326:Ginm1	UTSW	10	7777850	nonsense	probably null
R7417:Ginm1	UTSW	10	7774080	missense	probably damaging	0.99
R7663:Ginm1	UTSW	10	7775362	missense	possibly damaging	0.84
R7757:Ginm1	UTSW	10	7779355	missense	probably damaging	1.00
R8237:Ginm1	UTSW	10	7792655	missense	unknown
R8437:Ginm1	UTSW	10	7770366	missense	probably benign
R9004:Ginm1	UTSW	10	7775255	missense	probably damaging	1.00
R9239:Ginm1	UTSW	10	7774061	missense	possibly damaging	0.93

Posted On

2013-03-25