Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Gstcd'

36457

Institutional Source

Beutler Lab

Gene Symbol

Gstcd

Ensembl Gene

ENSMUSG00000028018

Gene Name

glutathione S-transferase, C-terminal domain containing

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0378 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

132981752-133092033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132986408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 582 (L582H)

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: L582H

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

SMART Domains

Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: L582H

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: L582H

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

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: L582H

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

Meta Mutation Damage Score

0.3957

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly 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
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
R4713:Gstcd	UTSW	3	132983099	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'- TGTCAGTCATAATGGCTAATGTGCTGC -3'
(R):5'- CAGTCAACTTGACGGGAAGAAGTCAC -3'

Sequencing Primer
(F):5'- GCTAATGTGCTGCATTACAGTTC -3'
(R):5'- AGGATTGCTCTTTTCAGCTACTC -3'

Posted On

2013-05-09