Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Ginm1'

685152

Institutional Source

Beutler Lab

Gene Symbol

Ginm1

Ensembl Gene

ENSMUSG00000040006

Gene Name

glycoprotein integral membrane 1

Synonyms

BC013529

MMRRC Submission

068834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7643711-7656681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7651019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 129 (V129G)

Ref Sequence

ENSEMBL: ENSMUSP00000119129 (fasta)

Gene Model

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

AlphaFold

Q91WR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000039763
AA Change: V129G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006
AA Change: V129G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124838
AA Change: V129G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006
AA Change: V129G

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

Meta Mutation Damage Score

0.4782

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,454,197 (GRCm39)		probably benign	Het
2310057N15Rik	C	A	16: 88,570,986 (GRCm39)	C18F	probably damaging	Het
Abca7	T	A	10: 79,841,483 (GRCm39)	M941K	probably damaging	Het
Abcd2	A	G	15: 91,075,051 (GRCm39)	I254T	probably benign	Het
Abcg8	C	A	17: 85,004,790 (GRCm39)	T519K	probably benign	Het
Adcy9	A	G	16: 4,106,378 (GRCm39)	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,109,894 (GRCm39)	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,279,921 (GRCm39)	D529G	probably damaging	Het
Ascc3	T	A	10: 50,718,276 (GRCm39)	C1990S	probably benign	Het
BC034090	T	A	1: 155,102,138 (GRCm39)	N42I	possibly damaging	Het
Bptf	G	A	11: 106,945,713 (GRCm39)	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,225,662 (GRCm39)	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883 (GRCm39)	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,557,722 (GRCm39)	N268D	probably benign	Het
Cep152	T	C	2: 125,453,020 (GRCm39)	S351G	probably benign	Het
Chrm1	T	C	19: 8,655,909 (GRCm39)	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,449,430 (GRCm39)	D454E	probably benign	Het
Dmbt1	T	C	7: 130,713,798 (GRCm39)	L1622P	unknown	Het
Eif2s2	A	G	2: 154,720,404 (GRCm39)	Y172H	probably benign	Het
Ell	T	A	8: 71,031,604 (GRCm39)	S101T	probably damaging	Het
Faf1	A	G	4: 109,698,550 (GRCm39)	T337A	probably benign	Het
Fhad1	A	T	4: 141,649,735 (GRCm39)		probably benign	Het
Gen1	T	C	12: 11,305,022 (GRCm39)		probably benign	Het
Gfap	A	G	11: 102,782,268 (GRCm39)	I414T	probably benign	Het
Helq	C	T	5: 100,926,598 (GRCm39)		probably benign	Het
Hoxb3	A	G	11: 96,237,137 (GRCm39)	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,045 (GRCm39)	V584A	probably damaging	Het
Iglc2	T	C	16: 19,017,425 (GRCm39)	K59R	probably benign	Het
Inhba	T	C	13: 16,201,526 (GRCm39)	S363P	probably benign	Het
Kif1c	A	G	11: 70,615,958 (GRCm39)	K656E	probably benign	Het
Mroh4	G	T	15: 74,486,171 (GRCm39)	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Naaladl1	C	A	19: 6,155,965 (GRCm39)	D46E	probably damaging	Het
Nbea	C	T	3: 55,910,359 (GRCm39)	V1279I	probably benign	Het
Nceh1	T	A	3: 27,293,726 (GRCm39)	D161E	possibly damaging	Het
Nck2	A	T	1: 43,593,510 (GRCm39)	N239I		Het
Nlrx1	C	T	9: 44,167,644 (GRCm39)	R751H	probably benign	Het
Or10ag54	T	A	2: 87,099,695 (GRCm39)	F190Y	possibly damaging	Het
Or8b46	A	G	9: 38,450,530 (GRCm39)	Y113C	probably benign	Het
Or8g17	C	A	9: 38,930,580 (GRCm39)	V86L	probably benign	Het
Oscar	A	T	7: 3,619,040 (GRCm39)	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,763,979 (GRCm39)	I511F	probably damaging	Het
Pappa2	T	C	1: 158,764,518 (GRCm39)	D331G	possibly damaging	Het
Pde4c	C	T	8: 71,199,515 (GRCm39)	S265L	possibly damaging	Het
Pex1	A	G	5: 3,662,914 (GRCm39)	S502G	probably benign	Het
Pigl	A	G	11: 62,403,779 (GRCm39)	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,799,421 (GRCm39)	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,406,768 (GRCm39)	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,008,513 (GRCm39)	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,849 (GRCm39)	Y11H	probably damaging	Het
Prss54	C	A	8: 96,292,137 (GRCm39)	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,732,687 (GRCm39)	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,608,314 (GRCm39)	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,697,771 (GRCm39)		probably benign	Het
Sdad1	T	C	5: 92,439,820 (GRCm39)	T402A	probably benign	Het
Stk32c	T	C	7: 138,702,859 (GRCm39)	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,178,109 (GRCm39)	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,704,018 (GRCm39)	E105V	probably benign	Het
Tlk1	A	G	2: 70,552,290 (GRCm39)	I520T	probably damaging	Het
Tmf1	A	G	6: 97,152,738 (GRCm39)	V445A	probably benign	Het
Tomm6	T	C	17: 47,998,833 (GRCm39)	D40G	possibly damaging	Het
Traf6	C	A	2: 101,520,443 (GRCm39)	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,670,284 (GRCm39)	H150R		Het
Ube2g2	A	T	10: 77,479,434 (GRCm39)	M126L	probably benign	Het
Unc45b	A	G	11: 82,819,515 (GRCm39)	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,580,840 (GRCm39)	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,650,624 (GRCm39)	L112F		Het
Wwc2	A	C	8: 48,373,732 (GRCm39)	L45V	probably damaging	Het
Zfp459	A	C	13: 67,556,714 (GRCm39)	I123R	probably damaging	Het

Other mutations in Ginm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ginm1	APN	10	7,668,460 (GRCm39)	unclassified	probably benign
IGL02474:Ginm1	APN	10	7,653,532 (GRCm39)	splice site	probably benign
IGL02606:Ginm1	APN	10	7,646,163 (GRCm39)	missense	probably damaging	0.98
Juniper	UTSW	10	7,655,119 (GRCm39)	missense	probably damaging	1.00
R0010:Ginm1	UTSW	10	7,651,138 (GRCm39)	splice site	probably benign
R0010:Ginm1	UTSW	10	7,651,138 (GRCm39)	splice site	probably benign
R0052:Ginm1	UTSW	10	7,655,070 (GRCm39)	missense	possibly damaging	0.92
R0052:Ginm1	UTSW	10	7,655,070 (GRCm39)	missense	possibly damaging	0.92
R1901:Ginm1	UTSW	10	7,650,980 (GRCm39)	critical splice donor site	probably null
R2106:Ginm1	UTSW	10	7,651,090 (GRCm39)	missense	probably damaging	1.00
R5374:Ginm1	UTSW	10	7,655,078 (GRCm39)	missense	probably damaging	0.99
R5929:Ginm1	UTSW	10	7,649,814 (GRCm39)	missense	probably benign	0.16
R6062:Ginm1	UTSW	10	7,651,097 (GRCm39)	missense	probably benign	0.00
R6102:Ginm1	UTSW	10	7,644,260 (GRCm39)	missense	probably benign	0.00
R6792:Ginm1	UTSW	10	7,649,747 (GRCm39)	missense	probably damaging	1.00
R7326:Ginm1	UTSW	10	7,653,614 (GRCm39)	nonsense	probably null
R7417:Ginm1	UTSW	10	7,649,844 (GRCm39)	missense	probably damaging	0.99
R7663:Ginm1	UTSW	10	7,651,126 (GRCm39)	missense	possibly damaging	0.84
R7757:Ginm1	UTSW	10	7,655,119 (GRCm39)	missense	probably damaging	1.00
R8237:Ginm1	UTSW	10	7,668,419 (GRCm39)	missense	unknown
R8437:Ginm1	UTSW	10	7,646,130 (GRCm39)	missense	probably benign
R9239:Ginm1	UTSW	10	7,649,825 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACGTGATGAGACAGTTCTAGGG -3'
(R):5'- CGTGTTCCAAGTCCATGTCATAG -3'

Sequencing Primer
(F):5'- TGAGCTCAGAGGCATAGTCTCTC -3'
(R):5'- GTTCCAAGTCCATGTCATAGAAATC -3'

Posted On

2021-10-11