Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Gstcd'

395641

Institutional Source

Beutler Lab

Gene Symbol

Gstcd

Ensembl Gene

ENSMUSG00000028018

Gene Name

glutathione S-transferase, C-terminal domain containing

Synonyms

4933434L15Rik

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132687513-132797794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 132790440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 109 (V109G)

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: V109G

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

SMART Domains

Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: V109G

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: V109G

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

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: V109G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197381

Meta Mutation Damage Score

0.8367

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	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
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
R8029:Gstcd	UTSW	3	132,787,868 (GRCm39)	missense	probably damaging	0.99
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'- CGGATTGCCCTGTAATGATGC -3'
(R):5'- GTCCTCACTGAAGAAAGTACAGATAC -3'

Sequencing Primer
(F):5'- TGCCCTGTAATGATGCCATGAAAAG -3'
(R):5'- CTTCAGACACTTCGTTCCTAAAAGAG -3'

Posted On

2016-06-21