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

4933434L15Rik

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132687513-132797794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132787868 bp (GRCm39)

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
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	Het

Other mutations in Gstcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Gstcd	APN	3	132,692,175 (GRCm39)	missense	probably damaging	0.96
IGL01800:Gstcd	APN	3	132,790,335 (GRCm39)	critical splice donor site	probably null
IGL02434:Gstcd	APN	3	132,701,963 (GRCm39)	splice site	probably benign
IGL02720:Gstcd	APN	3	132,777,722 (GRCm39)	missense	probably benign	0.00
R0367:Gstcd	UTSW	3	132,692,138 (GRCm39)	splice site	probably benign
R0378:Gstcd	UTSW	3	132,692,169 (GRCm39)	missense	probably damaging	1.00
R0382:Gstcd	UTSW	3	132,692,169 (GRCm39)	missense	probably damaging	1.00
R0465:Gstcd	UTSW	3	132,688,905 (GRCm39)	missense	probably benign	0.04
R1295:Gstcd	UTSW	3	132,711,389 (GRCm39)	missense	probably damaging	1.00
R1861:Gstcd	UTSW	3	132,688,868 (GRCm39)	missense	probably damaging	1.00
R2056:Gstcd	UTSW	3	132,787,814 (GRCm39)	missense	probably benign	0.00
R2331:Gstcd	UTSW	3	132,704,641 (GRCm39)	missense	probably damaging	0.98
R2513:Gstcd	UTSW	3	132,788,082 (GRCm39)	missense	possibly damaging	0.87
R2513:Gstcd	UTSW	3	132,788,081 (GRCm39)	missense	possibly damaging	0.59
R3547:Gstcd	UTSW	3	132,790,599 (GRCm39)	missense	possibly damaging	0.86
R4022:Gstcd	UTSW	3	132,787,829 (GRCm39)	missense	probably damaging	1.00
R4713:Gstcd	UTSW	3	132,688,860 (GRCm39)	missense	probably damaging	1.00
R4877:Gstcd	UTSW	3	132,711,314 (GRCm39)	splice site	probably benign
R5152:Gstcd	UTSW	3	132,790,717 (GRCm39)	missense	possibly damaging	0.95
R5165:Gstcd	UTSW	3	132,790,440 (GRCm39)	missense	probably damaging	0.99
R6106:Gstcd	UTSW	3	132,704,675 (GRCm39)	missense	probably benign	0.02
R6177:Gstcd	UTSW	3	132,787,834 (GRCm39)	missense	probably damaging	1.00
R7100:Gstcd	UTSW	3	132,790,704 (GRCm39)	missense	probably benign	0.01
R7264:Gstcd	UTSW	3	132,790,540 (GRCm39)	missense	probably benign	0.00
R7785:Gstcd	UTSW	3	132,787,868 (GRCm39)	missense	probably damaging	0.99
R7786:Gstcd	UTSW	3	132,787,868 (GRCm39)	missense	probably damaging	0.99
R7972:Gstcd	UTSW	3	132,777,894 (GRCm39)	missense	probably benign	0.10
R7975:Gstcd	UTSW	3	132,777,863 (GRCm39)	missense	probably damaging	1.00
R8036:Gstcd	UTSW	3	132,787,868 (GRCm39)	missense	probably damaging	0.99
R8088:Gstcd	UTSW	3	132,787,868 (GRCm39)	missense	probably damaging	0.99
R8716:Gstcd	UTSW	3	132,688,950 (GRCm39)	missense	probably damaging	1.00
R8722:Gstcd	UTSW	3	132,777,822 (GRCm39)	nonsense	probably null
R9276:Gstcd	UTSW	3	132,777,665 (GRCm39)	missense	probably damaging	1.00
R9575:Gstcd	UTSW	3	132,704,708 (GRCm39)	missense	probably damaging	1.00
R9789:Gstcd	UTSW	3	132,790,357 (GRCm39)	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