Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Gstcd'

353349

Institutional Source

Beutler Lab

Gene Symbol

Gstcd

Ensembl Gene

ENSMUSG00000028018

Gene Name

glutathione S-transferase, C-terminal domain containing

Synonyms

MMRRC Submission

041601-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4713 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

132981752-133092033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132983099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 630 (V630A)

Ref Sequence

ENSEMBL: ENSMUSP00000079421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029651] [ENSMUST00000080583]

AlphaFold

Q5RL51

Predicted Effect

probably damaging
Transcript: ENSMUST00000029651
AA Change: V630A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: V630A

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
low complexity region	168	181	N/A	INTRINSIC
low complexity region	195	205	N/A	INTRINSIC
low complexity region	208	229	N/A	INTRINSIC
Pfam:GidB	417	515	9e-9	PFAM
Pfam:Methyltransf_32	424	548	1.1e-15	PFAM
Pfam:MTS	430	508	5.3e-6	PFAM
Pfam:Methyltransf_31	440	571	2.6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080583
AA Change: V630A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: V630A

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
low complexity region	168	181	N/A	INTRINSIC
low complexity region	195	205	N/A	INTRINSIC
low complexity region	208	229	N/A	INTRINSIC
Pfam:GidB	418	516	1.5e-8	PFAM
Pfam:Methyltransf_32	424	548	1.1e-15	PFAM
Pfam:Methyltransf_31	440	569	2.5e-11	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688	E204*	probably null	Het
Cd163	T	A	6: 124,317,618		probably null	Het
Cep152	C	A	2: 125,587,948	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574	E762G	unknown	Het
Creb3	A	G	4: 43,563,247	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839		probably null	Het
Gimap8	A	T	6: 48,658,986	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457		probably benign	Het
Gsr	T	G	8: 33,680,319		probably null	Het
Hip1r	T	C	5: 123,989,980	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027		silent	Het
Itga11	A	G	9: 62,765,788	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577	T773I	probably benign	Het
Mfsd7a	T	C	5: 108,442,079	T486A	probably damaging	Het
Mki67	A	G	7: 135,695,469	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087	T223A	probably benign	Het
Plec	T	C	15: 76,181,067	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396	M35I	probably benign	Het
Reln	T	A	5: 22,152,463	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129		probably null	Het
Scn10a	C	T	9: 119,609,651	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968	N89I	probably damaging	Het

Other mutations in Gstcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Gstcd	APN	3	132986414	missense	probably damaging	0.96
IGL01800:Gstcd	APN	3	133084574	critical splice donor site	probably null
IGL02434:Gstcd	APN	3	132996202	splice site	probably benign
IGL02720:Gstcd	APN	3	133071961	missense	probably benign	0.00
R0367:Gstcd	UTSW	3	132986377	splice site	probably benign
R0378:Gstcd	UTSW	3	132986408	missense	probably damaging	1.00
R0382:Gstcd	UTSW	3	132986408	missense	probably damaging	1.00
R0465:Gstcd	UTSW	3	132983144	missense	probably benign	0.04
R1295:Gstcd	UTSW	3	133005628	missense	probably damaging	1.00
R1861:Gstcd	UTSW	3	132983107	missense	probably damaging	1.00
R2056:Gstcd	UTSW	3	133082053	missense	probably benign	0.00
R2331:Gstcd	UTSW	3	132998880	missense	probably damaging	0.98
R2513:Gstcd	UTSW	3	133082320	missense	possibly damaging	0.59
R2513:Gstcd	UTSW	3	133082321	missense	possibly damaging	0.87
R3547:Gstcd	UTSW	3	133084838	missense	possibly damaging	0.86
R4022:Gstcd	UTSW	3	133082068	missense	probably damaging	1.00
R4877:Gstcd	UTSW	3	133005553	splice site	probably benign
R5152:Gstcd	UTSW	3	133084956	missense	possibly damaging	0.95
R5165:Gstcd	UTSW	3	133084679	missense	probably damaging	0.99
R6106:Gstcd	UTSW	3	132998914	missense	probably benign	0.02
R6177:Gstcd	UTSW	3	133082073	missense	probably damaging	1.00
R7100:Gstcd	UTSW	3	133084943	missense	probably benign	0.01
R7264:Gstcd	UTSW	3	133084779	missense	probably benign	0.00
R7785:Gstcd	UTSW	3	133082107	missense	probably damaging	0.99
R7786:Gstcd	UTSW	3	133082107	missense	probably damaging	0.99
R7972:Gstcd	UTSW	3	133072133	missense	probably benign	0.10
R7975:Gstcd	UTSW	3	133072102	missense	probably damaging	1.00
R8029:Gstcd	UTSW	3	133082107	missense	probably damaging	0.99
R8036:Gstcd	UTSW	3	133082107	missense	probably damaging	0.99
R8088:Gstcd	UTSW	3	133082107	missense	probably damaging	0.99
R8716:Gstcd	UTSW	3	132983189	missense	probably damaging	1.00
R8722:Gstcd	UTSW	3	133072061	nonsense	probably null
R9276:Gstcd	UTSW	3	133071904	missense	probably damaging	1.00
R9575:Gstcd	UTSW	3	132998947	missense	probably damaging	1.00
R9789:Gstcd	UTSW	3	133084596	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCCTGTCATCCTTCTGC -3'
(R):5'- ACTGTCACTGCGAAGATCCC -3'

Sequencing Primer
(F):5'- ATCCTTCTGCGCACACAG -3'
(R):5'- CACTGCGAAGATCCCTGTGTATG -3'

Posted On

2015-10-21