Mutagenetix > Incidental Mutation

Incidental Mutation 'R2428:Gstm6'

250305

Institutional Source

Beutler Lab

Gene Symbol

Gstm6

Ensembl Gene

ENSMUSG00000068762

Gene Name

glutathione S-transferase, mu 6

Synonyms

MMRRC Submission

040390-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2428 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

107938847-107943749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107943606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 10 (I10F)

Ref Sequence

ENSEMBL: ENSMUSP00000102296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106681] [ENSMUST00000106683] [ENSMUST00000106684] [ENSMUST00000106685] [ENSMUST00000155926]

AlphaFold

O35660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106680

SMART Domains

Protein: ENSMUSP00000102291
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	77	6.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106681

SMART Domains

Protein: ENSMUSP00000102292
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	48	9.4e-12	PFAM
Pfam:GST_C_3	7	154	7.6e-11	PFAM
Pfam:GST_C	70	154	3.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106683

SMART Domains

Protein: ENSMUSP00000102294
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_C_3	4	95	6.3e-11	PFAM
Pfam:GST_C	6	97	2.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106684
AA Change: I10F

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102295
Gene: ENSMUSG00000068762
AA Change: I10F

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	2e-22	PFAM
Pfam:GST_C_3	41	204	4.1e-12	PFAM
Pfam:GST_C	104	205	5.9e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106685
AA Change: I10F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102296
Gene: ENSMUSG00000068762
AA Change: I10F

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	7.9e-23	PFAM
Pfam:GST_C	104	192	8.4e-20	PFAM
Pfam:GST_C_3	113	190	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155926

SMART Domains

Protein: ENSMUSP00000139500
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	48	1.9e-10	PFAM

Meta Mutation Damage Score

0.7019

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,746,126	S1080L	possibly damaging	Het
Acad9	G	A	3: 36,090,923	A624T	probably benign	Het
Astn1	C	T	1: 158,612,346	A828V	possibly damaging	Het
Bag6	A	C	17: 35,147,175	D1117A	probably damaging	Het
Col12a1	A	T	9: 79,602,251	C3042S	probably benign	Het
Ctc1	G	A	11: 69,027,701	V265I	possibly damaging	Het
Cubn	T	C	2: 13,476,150	Y298C	probably damaging	Het
Dmtn	G	A	14: 70,613,403	R183W	probably damaging	Het
F2rl2	T	A	13: 95,697,077	I5N	possibly damaging	Het
Gpr137c	A	G	14: 45,278,963	Y336C	probably damaging	Het
Hivep3	T	A	4: 120,098,508	C1340*	probably null	Het
Igf1	A	G	10: 87,864,821	T36A	probably damaging	Het
Lrch1	T	A	14: 74,807,545		probably benign	Het
Mrpl40	A	T	16: 18,872,375	I195N	probably damaging	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Ndufc1	A	C	3: 51,408,143		probably null	Het
Nfasc	T	C	1: 132,595,654	N973S	possibly damaging	Het
Olfr1013	A	T	2: 85,769,978	Y59F	probably damaging	Het
Olfr1318	G	A	2: 112,156,442	V164I	probably benign	Het
Olfr644	G	A	7: 104,068,468	R188*	probably null	Het
Olfr805	T	C	10: 129,722,783	I254V	probably benign	Het
Pkdrej	C	A	15: 85,817,572	E1388*	probably null	Het
Prrc2b	T	A	2: 32,216,055	D1482E	probably benign	Het
Sppl2a	A	T	2: 126,912,695	S403R	possibly damaging	Het
Tespa1	A	G	10: 130,362,075	D322G	probably damaging	Het
Tmcc2	C	T	1: 132,360,831	V373M	probably damaging	Het
Ttn	T	C	2: 76,814,173	N13079S	possibly damaging	Het
Wdr53	A	G	16: 32,252,190	I118V	probably benign	Het
Zdbf2	T	C	1: 63,305,615	M1051T	probably benign	Het
Zfp784	G	C	7: 5,038,358		probably benign	Het

Other mutations in Gstm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Gstm6	APN	3	107941063	missense	probably benign	0.15
IGL02100:Gstm6	APN	3	107942337	missense	probably benign	0.20
IGL02685:Gstm6	APN	3	107941191	missense	probably benign	0.25
R1221:Gstm6	UTSW	3	107941102	missense	probably damaging	1.00
R2763:Gstm6	UTSW	3	107941042	missense	possibly damaging	0.65
R6178:Gstm6	UTSW	3	107941081	missense	probably benign	0.01
R6545:Gstm6	UTSW	3	107942365	missense	probably damaging	1.00
R6730:Gstm6	UTSW	3	107942725	nonsense	probably null
R8240:Gstm6	UTSW	3	107942137	missense	probably damaging	0.99
R9354:Gstm6	UTSW	3	107942702	missense	probably damaging	1.00
X0018:Gstm6	UTSW	3	107942747	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGACAGAGTTTGGACTG -3'
(R):5'- GCCTTCGGTATCTGAAAGCTC -3'

Sequencing Primer
(F):5'- GGGAATCTTCTTCGTGGA -3'
(R):5'- CGGATGATAGCTCCTGGAATTAG -3'

Posted On

2014-11-12