Mutagenetix > Incidental Mutations

Incidental Mutation 'R6062:Ginm1'

483856

Institutional Source

Beutler Lab

Gene Symbol

Ginm1

Ensembl Gene

ENSMUSG00000040006

Gene Name

glycoprotein integral membrane 1

Synonyms

BC013529

MMRRC Submission

044227-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7767947-7792824 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7775333 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 103 (H103L)

Ref Sequence

ENSEMBL: ENSMUSP00000119129 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039763
AA Change: H103L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006
AA Change: H103L

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
AA Change: H103L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006
AA Change: H103L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	G	T	4: 58,826,453	S1038Y	possibly damaging	Het
Atat1	T	A	17: 35,908,564	Q136L	probably damaging	Het
Atm	A	G	9: 53,488,587	L1531P	probably damaging	Het
Brca2	G	A	5: 150,556,889	R2708H	probably damaging	Het
Cand1	G	A	10: 119,218,010	A141V	possibly damaging	Het
Cdcp2	T	C	4: 107,102,492	S35P	probably damaging	Het
Ces4a	G	A	8: 105,138,174		probably null	Het
Colec10	T	A	15: 54,459,807	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,406,189	D90E	probably damaging	Het
Csmd1	T	C	8: 16,092,305	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 95,457,469	V154A	possibly damaging	Het
Daglb	T	C	5: 143,494,603	I454T	probably benign	Het
Dtna	C	A	18: 23,622,056	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,293,380		probably benign	Het
Eefsec	A	T	6: 88,355,629	S200T	probably benign	Het
Enthd1	T	A	15: 80,452,715	D506V	probably damaging	Het
Erbb2	A	G	11: 98,433,249	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,780,713	C183R	probably damaging	Het
Golgb1	C	A	16: 36,914,671	Q1427K	possibly damaging	Het
Grb14	G	T	2: 65,022,620	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,937,247	M192K	probably damaging	Het
Herpud2	A	T	9: 25,108,988	D357E	probably damaging	Het
Idi1	A	G	13: 8,887,505	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,498,541	V176A	probably benign	Het
Matn1	T	A	4: 130,951,966	D310E	probably benign	Het
Mbtps1	A	T	8: 119,531,091	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,759,308	D2417G	unknown	Het
Myo7b	T	C	18: 31,967,990	T1551A	possibly damaging	Het
Neb	A	G	2: 52,185,281	M224T	probably benign	Het
Ola1	A	T	2: 73,199,498	D92E	probably damaging	Het
Olfr1019	T	G	2: 85,841,114	I226L	probably benign	Het
Olfr388-ps1	A	C	11: 73,724,560	C155G	unknown	Het
Olfr723	A	T	14: 49,928,662	M294K	probably damaging	Het
Olfr912	T	A	9: 38,539,144	M83K	probably damaging	Het
Otud4	T	C	8: 79,673,896	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,524,751	A165T	probably benign	Het
Prelid2	T	C	18: 41,912,465	I127V	probably benign	Het
Rab35	A	G	5: 115,640,088	I38V	probably damaging	Het
Rab3d	T	C	9: 21,910,519	T209A	probably benign	Het
Rapgef1	A	G	2: 29,700,732	E321G	probably damaging	Het
Rem1	T	C	2: 152,628,097	M1T	probably null	Het
Rgsl1	T	C	1: 153,799,872	K181R	possibly damaging	Het
Scel	C	A	14: 103,585,136	N395K	possibly damaging	Het
Sept9	A	G	11: 117,290,800	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,764,905	M191R	probably benign	Het
Slc22a19	T	C	19: 7,674,282	N520S	probably damaging	Het
Slc28a1	C	T	7: 81,115,563	R9*	probably null	Het
Slc2a7	T	C	4: 150,168,427	V508A	probably benign	Het
Slc8a3	G	A	12: 81,314,350	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,343,406	I455L	possibly damaging	Het
Tmem267	T	C	13: 119,609,231	S141P	probably damaging	Het
Tnn	T	A	1: 160,098,278	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,976,259	I30T	possibly damaging	Het
Zfp382	T	C	7: 30,133,590	L222P	probably damaging	Het
Zfp950	T	A	19: 61,120,425	K73N	possibly damaging	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
R0010:Ginm1	UTSW	10	7775374	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTACCTTCCTGCTAATCG -3'
(R):5'- TCTGAGACTGGTAAGGTCAAGG -3'

Sequencing Primer
(F):5'- TCCTGCTAATCGTTCCAGAAAC -3'
(R):5'- CTGGTAAGGTCAAGGACAGAG -3'

Posted On

2017-07-14