Mutagenetix > Incidental Mutation

Incidental Mutation 'R6224:Gspt1'

504222

Institutional Source

Beutler Lab

Gene Symbol

Gspt1

Ensembl Gene

ENSMUSG00000062203

Gene Name

G1 to S phase transition 1

Synonyms

Gst-1, G1st, Gst-1

MMRRC Submission

044355-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11037156-11072189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11042406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 493 (V493L)

Ref Sequence

ENSEMBL: ENSMUSP00000078940 (fasta)

Gene Model

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

AlphaFold

Q8R050

PDB Structure

Structure of GSPT1/ERF3A-PABC [SOLUTION NMR]
Structure of GSPT1/ERF3A-PABC [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000080030
AA Change: V493L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: V493L

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

probably benign
Transcript: ENSMUST00000167571
AA Change: V492L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: V492L

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

Meta Mutation Damage Score

0.2700

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	C	11: 99,728,840 (GRCm39)	M1R	probably null	Het
4930505A04Rik	A	C	11: 30,404,815 (GRCm39)	N29K	probably benign	Het
Adamtsl4	T	C	3: 95,589,039 (GRCm39)	Y464C	probably damaging	Het
Asgr2	T	C	11: 69,989,072 (GRCm39)	V172A	probably damaging	Het
Atad1	T	C	19: 32,676,028 (GRCm39)	Y132C	probably damaging	Het
Bpifa6	G	A	2: 153,829,073 (GRCm39)	R200H	probably damaging	Het
Brd1	A	T	15: 88,572,558 (GRCm39)	M1171K	possibly damaging	Het
Cadm2	A	T	16: 66,461,281 (GRCm39)	L392Q	probably damaging	Het
Ccdc183	C	T	2: 25,500,594 (GRCm39)	E333K	possibly damaging	Het
Cenpe	T	C	3: 134,949,536 (GRCm39)	I1335T	possibly damaging	Het
Cpxm2	T	C	7: 131,745,460 (GRCm39)	N122D	probably benign	Het
Crls1	T	A	2: 132,691,770 (GRCm39)		probably null	Het
Cyp46a1	T	C	12: 108,327,819 (GRCm39)	F460S	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcps	T	A	9: 35,047,777 (GRCm39)	T128S	probably benign	Het
Dcun1d3	A	T	7: 119,458,714 (GRCm39)	L107*	probably null	Het
Eml1	T	C	12: 108,480,767 (GRCm39)	F397S	probably damaging	Het
Fanca	T	A	8: 124,032,020 (GRCm39)	H348L	possibly damaging	Het
Foxo1	T	A	3: 52,253,093 (GRCm39)	S419T	probably benign	Het
Gli3	T	C	13: 15,899,730 (GRCm39)	V1039A	probably benign	Het
Gng14	A	T	8: 85,794,220 (GRCm39)	*73R	probably null	Het
Gp6	A	T	7: 4,397,211 (GRCm39)	F75I	probably benign	Het
Gpha2	T	A	19: 6,277,142 (GRCm39)	I81N	possibly damaging	Het
Igsf10	C	A	3: 59,232,931 (GRCm39)	C1934F	probably damaging	Het
Irgm1	T	C	11: 48,757,713 (GRCm39)	T49A	probably benign	Het
Klc4	A	G	17: 46,950,988 (GRCm39)	I207T	possibly damaging	Het
Krt1	A	T	15: 101,758,702 (GRCm39)	V154D	possibly damaging	Het
Lama1	T	C	17: 68,109,982 (GRCm39)	V2201A	possibly damaging	Het
Lilrb4a	T	A	10: 51,367,745 (GRCm39)	Y96N	probably damaging	Het
Lrfn2	A	G	17: 49,403,379 (GRCm39)	T501A	probably damaging	Het
Lrriq1	A	G	10: 103,051,618 (GRCm39)	I378T	probably damaging	Het
Mphosph8	T	C	14: 56,905,810 (GRCm39)	M1T	probably null	Het
Nsd1	T	C	13: 55,460,945 (GRCm39)	S2391P	possibly damaging	Het
Ogdhl	G	A	14: 32,064,018 (GRCm39)	G647D	probably benign	Het
Or5p57	T	C	7: 107,665,949 (GRCm39)	I19V	probably benign	Het
Or6c76b	A	G	10: 129,693,061 (GRCm39)	K225E	probably benign	Het
Pbrm1	T	A	14: 30,772,068 (GRCm39)	H387Q	probably benign	Het
Pdgfrb	C	A	18: 61,215,011 (GRCm39)	Y1013*	probably null	Het
Pitrm1	T	C	13: 6,615,090 (GRCm39)	V562A	probably damaging	Het
Pnpla8	T	C	12: 44,329,811 (GRCm39)	V121A	possibly damaging	Het
Psd4	T	C	2: 24,291,569 (GRCm39)	L639P	probably damaging	Het
Psmc3	G	T	2: 90,884,975 (GRCm39)	R47L	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sesn2	A	G	4: 132,229,881 (GRCm39)	V50A	probably benign	Het
Skic3	C	T	13: 76,266,410 (GRCm39)	T219M	probably benign	Het
Slc6a16	G	A	7: 44,910,572 (GRCm39)	G377S	probably damaging	Het
Slitrk1	A	G	14: 109,149,454 (GRCm39)	F419S	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,854,134 (GRCm39)		probably benign	Homo
Tgoln1	A	T	6: 72,592,984 (GRCm39)	D165E	possibly damaging	Het
Tmprss15	T	A	16: 78,821,266 (GRCm39)	T492S	probably benign	Het
Zc3h13	T	A	14: 75,574,849 (GRCm39)	M1565K	probably damaging	Het
Zcwpw1	T	C	5: 137,810,298 (GRCm39)	V358A	possibly damaging	Het
Zfp607a	A	G	7: 27,578,007 (GRCm39)	H359R	probably damaging	Het
Zzef1	T	A	11: 72,746,209 (GRCm39)	V837E	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
IGL01775:Gspt1	APN	16	11,041,159 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- TACTCAGGACAAAGGCACTG -3'
(R):5'- GTCTGACAAGCCAAGATTGAC -3'

Sequencing Primer
(F):5'- CTCAGGACAAAGGCACTGAAATTAAG -3'
(R):5'- AGCCAAGATTGACCCCCTTTC -3'

Posted On

2018-02-28