Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01775:Gspt1'

154084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gspt1

Ensembl Gene

ENSMUSG00000062203

Gene Name

G1 to S phase transition 1

Synonyms

Gst-1, G1st, Gst-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01775

Quality Score

Status

Chromosome

Chromosomal Location

11037156-11072189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11041159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 535 (I535V)

Ref Sequence

ENSEMBL: ENSMUSP00000130583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080030] [ENSMUST00000167571]

AlphaFold

Q8R050

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080030
AA Change: I536V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: I536V

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
Pfam:PAM2	64	81	4.3e-8	PFAM
low complexity region	101	116	N/A	INTRINSIC
low complexity region	151	193	N/A	INTRINSIC
Pfam:GTP_EFTU	209	482	3.1e-47	PFAM
Pfam:GTP_EFTU_D2	451	518	1.2e-8	PFAM
Pfam:GTP_EFTU_D3	524	632	7.6e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164098

Predicted Effect

probably benign
Transcript: ENSMUST00000167025

SMART Domains

Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU_D3	18	96	2.2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167571
AA Change: I535V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: I535V

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
Pfam:PAM2	64	81	7.1e-8	PFAM
low complexity region	101	116	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
Pfam:GTP_EFTU	208	476	4.3e-49	PFAM
Pfam:GTP_EFTU_D2	450	517	1.3e-7	PFAM
Pfam:GTP_EFTU_D3	523	631	2.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230245

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	T	11: 84,361,963 (GRCm39)	L333Q	probably damaging	Het
Ablim3	A	T	18: 61,949,989 (GRCm39)		probably benign	Het
Acsl6	T	C	11: 54,236,826 (GRCm39)		probably benign	Het
Adra1b	T	A	11: 43,726,128 (GRCm39)	D263V	probably damaging	Het
Aicda	G	A	6: 122,538,012 (GRCm39)	V57M	probably damaging	Het
C2cd3	T	C	7: 100,092,638 (GRCm39)	W494R	probably damaging	Het
Ccnb1	T	C	13: 100,920,017 (GRCm39)	S165G	probably benign	Het
Cnot4	A	T	6: 35,046,411 (GRCm39)		probably benign	Het
Dph6	A	T	2: 114,348,776 (GRCm39)		probably benign	Het
Emc3	A	G	6: 113,508,296 (GRCm39)	S50P	possibly damaging	Het
Fbxo45	A	C	16: 32,052,093 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,642,125 (GRCm39)	T599S	probably benign	Het
Hemk1	A	G	9: 107,207,995 (GRCm39)	I215T	possibly damaging	Het
Ighm	A	T	12: 113,386,087 (GRCm39)	C88S	unknown	Het
Itih2	A	C	2: 10,134,097 (GRCm39)	D38E	probably benign	Het
Lat	C	A	7: 125,967,261 (GRCm39)	V113L	probably benign	Het
Mical2	T	A	7: 111,981,269 (GRCm39)	F480L	possibly damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Msh2	A	T	17: 87,990,074 (GRCm39)	N254I	possibly damaging	Het
Naglu	T	C	11: 100,964,921 (GRCm39)	M336T	probably damaging	Het
Nhsl1	C	T	10: 18,400,222 (GRCm39)	R483C	probably damaging	Het
Nsmaf	C	T	4: 6,396,791 (GRCm39)	E899K	possibly damaging	Het
Nup85	T	C	11: 115,471,593 (GRCm39)	Y181H	probably damaging	Het
Or52n2	A	T	7: 104,542,499 (GRCm39)	M112K	possibly damaging	Het
Or5m5	T	C	2: 85,815,014 (GRCm39)	S277P	probably damaging	Het
Or7g35	A	T	9: 19,496,001 (GRCm39)	Q56L	probably benign	Het
Or8g23	C	A	9: 38,971,763 (GRCm39)	L66F	probably damaging	Het
P2rx3	C	T	2: 84,854,501 (GRCm39)	R91H	probably benign	Het
Plag1	T	C	4: 3,904,513 (GRCm39)	D226G	probably damaging	Het
Pofut1	T	A	2: 153,090,393 (GRCm39)	F96I	probably damaging	Het
Prim1	A	G	10: 127,865,112 (GRCm39)	N399S	probably benign	Het
Prkd3	G	T	17: 79,320,189 (GRCm39)	T51K	probably damaging	Het
Ptprc	T	C	1: 137,992,497 (GRCm39)	Y1210C	probably damaging	Het
Rbm43	A	T	2: 51,815,460 (GRCm39)	S254T	probably damaging	Het
Retsat	G	A	6: 72,584,300 (GRCm39)	R528Q	probably damaging	Het
Rlig1	A	T	10: 100,419,799 (GRCm39)	L94Q	probably benign	Het
Rps8	C	A	4: 117,012,249 (GRCm39)	R56L	probably benign	Het
Samhd1	A	T	2: 156,956,250 (GRCm39)		probably benign	Het
Sfxn1	T	C	13: 54,259,758 (GRCm39)		probably benign	Het
Stk33	T	A	7: 108,911,574 (GRCm39)	E396D	possibly damaging	Het
Tcaim	T	C	9: 122,647,890 (GRCm39)	V135A	probably damaging	Het
Thsd7b	A	G	1: 129,556,676 (GRCm39)	D421G	probably damaging	Het
Unc80	A	G	1: 66,640,215 (GRCm39)	D1374G	possibly damaging	Het
Wnk2	C	A	13: 49,224,586 (GRCm39)	D232Y	probably damaging	Het
Zfand1	T	C	3: 10,409,926 (GRCm39)	T145A	probably damaging	Het

Other mutations in Gspt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Gspt1	APN	16	11,040,476 (GRCm39)	missense	probably damaging	0.99
IGL00902:Gspt1	APN	16	11,050,443 (GRCm39)	missense	probably damaging	1.00
IGL00983:Gspt1	APN	16	11,048,861 (GRCm39)	splice site	probably benign
IGL02079:Gspt1	APN	16	11,058,693 (GRCm39)	missense	probably benign	0.17
IGL02122:Gspt1	APN	16	11,047,080 (GRCm39)	missense	probably damaging	1.00
IGL02525:Gspt1	APN	16	11,048,854 (GRCm39)	missense	probably damaging	1.00
IGL03092:Gspt1	APN	16	11,056,763 (GRCm39)	missense	probably benign	0.11
goliad	UTSW	16	11,042,406 (GRCm39)	missense	probably benign	0.04
R0835:Gspt1	UTSW	16	11,056,802 (GRCm39)	missense	probably benign
R1519:Gspt1	UTSW	16	11,038,719 (GRCm39)	missense	probably damaging	1.00
R3410:Gspt1	UTSW	16	11,047,109 (GRCm39)	missense	probably damaging	1.00
R4834:Gspt1	UTSW	16	11,040,581 (GRCm39)	missense	probably damaging	1.00
R4866:Gspt1	UTSW	16	11,040,529 (GRCm39)	missense	possibly damaging	0.69
R5121:Gspt1	UTSW	16	11,041,165 (GRCm39)	missense	probably damaging	0.99
R5408:Gspt1	UTSW	16	11,071,719 (GRCm39)	missense	probably benign
R5410:Gspt1	UTSW	16	11,048,374 (GRCm39)	missense	probably benign	0.00
R5517:Gspt1	UTSW	16	11,071,843 (GRCm39)	missense	unknown
R5704:Gspt1	UTSW	16	11,046,057 (GRCm39)	missense	possibly damaging	0.89
R6224:Gspt1	UTSW	16	11,042,406 (GRCm39)	missense	probably benign	0.04
R6317:Gspt1	UTSW	16	11,041,072 (GRCm39)	splice site	probably null
R7069:Gspt1	UTSW	16	11,040,525 (GRCm39)	missense	probably damaging	1.00
R7151:Gspt1	UTSW	16	11,071,692 (GRCm39)	missense	probably benign	0.05
R7317:Gspt1	UTSW	16	11,040,521 (GRCm39)	missense	probably benign	0.01
R8137:Gspt1	UTSW	16	11,058,532 (GRCm39)	missense	probably benign	0.00
R9401:Gspt1	UTSW	16	11,050,535 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-02-04