Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Gstcd'

617810

Institutional Source

Beutler Lab

Gene Symbol

Gstcd

Ensembl Gene

ENSMUSG00000028018

Gene Name

glutathione S-transferase, C-terminal domain containing

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132981752-133092033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133082107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 277 (V277M)

Ref Sequence

ENSEMBL: ENSMUSP00000029651 (fasta)

Gene Model

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

AlphaFold

Q5RL51

Predicted Effect

probably damaging
Transcript: ENSMUST00000029651
AA Change: V277M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: V277M

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: V277M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: V277M

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

0.1034

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	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
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
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'- CTCCACTTTACAGACAGGAGATTTG -3'
(R):5'- CTGAAGCAACAGAAGGCTGC -3'

Sequencing Primer
(F):5'- CAGGAGATTTGCTGAGACCC -3'
(R):5'- CAGAAGGCTGCTGGCAGTG -3'

Posted On

2020-01-23