Mutagenetix > Incidental Mutation

Incidental Mutation 'R7972:Gstcd'

650646

Institutional Source

Beutler Lab

Gene Symbol

Gstcd

Ensembl Gene

ENSMUSG00000028018

Gene Name

glutathione S-transferase, C-terminal domain containing

Synonyms

4933434L15Rik

MMRRC Submission

046015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132687513-132797794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132777894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 306 (F306I)

Ref Sequence

ENSEMBL: ENSMUSP00000029651 (fasta)

Gene Model

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

AlphaFold

Q5RL51

Predicted Effect

probably benign
Transcript: ENSMUST00000029651
AA Change: F306I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: F306I

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 benign
Transcript: ENSMUST00000080583
AA Change: F306I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: F306I

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

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,287 (GRCm39)	V384E	probably damaging	Het
Acacb	C	T	5: 114,364,918 (GRCm39)	R1533*	probably null	Het
Alox12	T	A	11: 70,133,513 (GRCm39)	M604L	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Brdt	A	T	5: 107,496,415 (GRCm39)	I176F	possibly damaging	Het
Cdk5	G	T	5: 24,624,656 (GRCm39)	T245K	probably benign	Het
Chd9	A	T	8: 91,732,395 (GRCm39)	R1304S	unknown	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cyp2j11	T	A	4: 96,185,871 (GRCm39)	E438V	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,803,949 (GRCm39)	V92A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam184a	A	T	10: 53,514,355 (GRCm39)	L1022Q	probably damaging	Het
Foxd4	T	C	19: 24,877,594 (GRCm39)	H202R	probably damaging	Het
Fry	T	C	5: 150,233,861 (GRCm39)	V16A	probably benign	Het
H2bc13	A	G	13: 21,899,977 (GRCm39)	S113P	possibly damaging	Het
Hivep3	T	C	4: 119,954,711 (GRCm39)	V1009A	possibly damaging	Het
Hoxd12	G	T	2: 74,506,269 (GRCm39)	R227L	probably damaging	Het
Ifi208	T	A	1: 173,506,556 (GRCm39)	M113K	possibly damaging	Het
Ift70a1	A	T	2: 75,810,802 (GRCm39)	M427K	probably damaging	Het
Kcnh4	T	G	11: 100,643,278 (GRCm39)	T330P	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lin28a	G	A	4: 133,733,574 (GRCm39)	P158S	probably damaging	Het
Muc16	C	A	9: 18,557,060 (GRCm39)	E3078*	probably null	Het
Naaladl1	A	G	19: 6,156,274 (GRCm39)	N120S	probably damaging	Het
Nol10	G	A	12: 17,402,648 (GRCm39)	R40H	probably benign	Het
Ntng1	G	A	3: 110,042,802 (GRCm39)	S8L	probably benign	Het
Or4a71	T	G	2: 89,357,948 (GRCm39)	I269L	probably benign	Het
Or4c107	T	A	2: 88,789,177 (GRCm39)	Y122*	probably null	Het
Pacsin1	T	A	17: 27,927,613 (GRCm39)	F319I	unknown	Het
Pla2g4d	G	A	2: 120,109,413 (GRCm39)	T212I	probably benign	Het
Ppp4r1	T	A	17: 66,140,093 (GRCm39)	C664S	possibly damaging	Het
Prodh2	T	C	7: 30,210,580 (GRCm39)	I377T	probably damaging	Het
Prss57	A	T	10: 79,619,230 (GRCm39)	L243H	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Ros1	G	A	10: 52,030,926 (GRCm39)	R581*	probably null	Het
Rps6kc1	C	T	1: 190,531,321 (GRCm39)	G894S	probably benign	Het
Sirt7	A	G	11: 120,510,016 (GRCm39)	S183P	unknown	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Styxl2	T	A	1: 165,926,708 (GRCm39)	E968V	probably damaging	Het
Tbc1d8	A	G	1: 39,431,250 (GRCm39)	F374S	probably damaging	Het
Tdrd1	T	A	19: 56,837,134 (GRCm39)	D489E	probably damaging	Het
Tiprl	T	A	1: 165,064,543 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,085,539 (GRCm39)	*173Q	probably null	Het
Trim17	A	G	11: 58,859,394 (GRCm39)	I203V	probably benign	Het
Trim43b	T	A	9: 88,973,361 (GRCm39)	H124L	probably damaging	Het
Triobp	T	C	15: 78,852,186 (GRCm39)	I780T	probably damaging	Het
Tyrobp	G	A	7: 30,114,063 (GRCm39)	G101R		Het
Vmn1r181	A	T	7: 23,683,871 (GRCm39)	H112L	probably benign	Het
Wdr19	A	G	5: 65,381,193 (GRCm39)	N406D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,728 (GRCm39)	K379E	probably benign	Het
Zcwpw1	T	C	5: 137,799,323 (GRCm39)	I230T	probably benign	Het
Zfhx4	A	G	3: 5,477,533 (GRCm39)	T3383A	probably benign	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
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'- AAGGGTCACTTTGCTCATCTAC -3'
(R):5'- CAAACTGTTACAGCGTTGTGG -3'

Sequencing Primer
(F):5'- ACAGCTGCTACTTCATCAGAATTC -3'
(R):5'- TTGTACCTTTGAGATGTGTAA -3'

Posted On

2020-09-15