Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Gspt1'

870

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

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

11219292-11254325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11222612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 610 (M610V)

Ref Sequence

ENSEMBL: ENSMUSP00000130583 (fasta)

Gene Model

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

AlphaFold

Q8R050

Predicted Effect

probably damaging
Transcript: ENSMUST00000080030
AA Change: M611V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: M611V

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

unknown
Transcript: ENSMUST00000167025
AA Change: M74V

SMART Domains

Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203
AA Change: M74V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167571
AA Change: M610V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: M610V

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047		probably null	Het
Axin1	A	T	17: 26,142,805	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451	E718*	probably null	Het
Cdc123	G	T	2: 5,804,935	Q222K	probably benign	Het
Clip1	A	C	5: 123,603,654	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622	Q81*	probably null	Het
Herc1	A	G	9: 66,437,682	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055		probably benign	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Lrrk2	A	G	15: 91,747,799	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131	T465K	probably benign	Het
Nwd1	A	T	8: 72,671,077	D648V	probably damaging	Het
Olfr272	T	G	4: 52,911,618	M59L	possibly damaging	Het
Olfr520	G	A	7: 99,735,317	R58H	probably benign	Het
Otof	T	C	5: 30,375,904	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397	C285Y	probably damaging	Het
Parp3	A	G	9: 106,471,387	I478T	probably benign	Het
Pdzd2	C	T	15: 12,457,983	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475	D146N	probably benign	Het
Slc16a9	A	G	10: 70,282,699	R283G	probably benign	Het
Sptb	T	C	12: 76,621,331	D664G	probably benign	Het
Tmprss3	T	A	17: 31,195,008	D54V	probably damaging	Het
Ttc37	T	C	13: 76,143,278		probably null	Het
Tubd1	G	T	11: 86,565,729	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870	E545V	probably damaging	Het

Other mutations in Gspt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Gspt1	APN	16	11232579	missense	probably damaging	1.00
IGL00983:Gspt1	APN	16	11230997	splice site	probably benign
IGL01775:Gspt1	APN	16	11223295	missense	possibly damaging	0.92
IGL02079:Gspt1	APN	16	11240829	missense	probably benign	0.17
IGL02122:Gspt1	APN	16	11229216	missense	probably damaging	1.00
IGL02525:Gspt1	APN	16	11230990	missense	probably damaging	1.00
IGL03092:Gspt1	APN	16	11238899	missense	probably benign	0.11
goliad	UTSW	16	11224542	missense	probably benign	0.04
R0835:Gspt1	UTSW	16	11238938	missense	probably benign
R1519:Gspt1	UTSW	16	11220855	missense	probably damaging	1.00
R3410:Gspt1	UTSW	16	11229245	missense	probably damaging	1.00
R4834:Gspt1	UTSW	16	11222717	missense	probably damaging	1.00
R4866:Gspt1	UTSW	16	11222665	missense	possibly damaging	0.69
R5121:Gspt1	UTSW	16	11223301	missense	probably damaging	0.99
R5408:Gspt1	UTSW	16	11253855	missense	probably benign
R5410:Gspt1	UTSW	16	11230510	missense	probably benign	0.00
R5517:Gspt1	UTSW	16	11253979	missense	unknown
R5704:Gspt1	UTSW	16	11228193	missense	possibly damaging	0.89
R6224:Gspt1	UTSW	16	11224542	missense	probably benign	0.04
R6317:Gspt1	UTSW	16	11223208	splice site	probably null
R7069:Gspt1	UTSW	16	11222661	missense	probably damaging	1.00
R7151:Gspt1	UTSW	16	11253828	missense	probably benign	0.05
R7317:Gspt1	UTSW	16	11222657	missense	probably benign	0.01
R8137:Gspt1	UTSW	16	11240668	missense	probably benign	0.00
R9401:Gspt1	UTSW	16	11232671	missense	possibly damaging	0.95

Posted On

2011-07-12