Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Gspt1'

501018

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

042979-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11219292-11254325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11230510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 416 (I416N)

Ref Sequence

ENSEMBL: ENSMUSP00000130583 (fasta)

Gene Model

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

AlphaFold

Q8R050

Predicted Effect

probably benign
Transcript: ENSMUST00000080030
AA Change: I417N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: I417N

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

noncoding transcript
Transcript: ENSMUST00000166063

Predicted Effect

probably benign
Transcript: ENSMUST00000167571
AA Change: I416N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: I416N

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: ENSMUST00000230245

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473 (GRCm38)		noncoding transcript	Het
Adam24	A	G	8: 40,681,064 (GRCm38)	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957 (GRCm38)	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237 (GRCm38)	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493 (GRCm38)		probably null	Het
Ascl5	A	T	1: 136,051,188 (GRCm38)	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716 (GRCm38)	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235 (GRCm38)	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035 (GRCm38)	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201 (GRCm38)		probably benign	Het
Ces1e	T	A	8: 93,210,442 (GRCm38)	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791 (GRCm38)	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353 (GRCm38)	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819 (GRCm38)	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284 (GRCm38)	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448 (GRCm38)	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854 (GRCm38)	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856 (GRCm38)	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566 (GRCm38)	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547 (GRCm38)	I237V	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hykk	G	A	9: 54,946,066 (GRCm38)	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263 (GRCm38)	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911 (GRCm38)	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366 (GRCm38)	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262 (GRCm38)	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514 (GRCm38)	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721 (GRCm38)	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292 (GRCm38)	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806 (GRCm38)	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991 (GRCm38)	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374 (GRCm38)	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997 (GRCm38)	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536 (GRCm38)	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612 (GRCm38)	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897 (GRCm38)	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777 (GRCm38)	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019 (GRCm38)	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330 (GRCm38)	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938 (GRCm38)	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047 (GRCm38)	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963 (GRCm38)	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291 (GRCm38)	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156 (GRCm38)		probably null	Het
Scap	A	G	9: 110,374,182 (GRCm38)		probably null	Het
Shank1	T	A	7: 44,351,822 (GRCm38)	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424 (GRCm38)	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368 (GRCm38)		probably null	Het
Tab2	T	C	10: 7,919,821 (GRCm38)	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372 (GRCm38)	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106 (GRCm38)	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373 (GRCm38)	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538 (GRCm38)	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923 (GRCm38)	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190 (GRCm38)	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258 (GRCm38)	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231 (GRCm38)	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421 (GRCm38)	F569L	probably damaging	Het

Other mutations in Gspt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Gspt1	APN	16	11,222,612 (GRCm38)	missense	probably damaging	0.99
IGL00902:Gspt1	APN	16	11,232,579 (GRCm38)	missense	probably damaging	1.00
IGL00983:Gspt1	APN	16	11,230,997 (GRCm38)	splice site	probably benign
IGL01775:Gspt1	APN	16	11,223,295 (GRCm38)	missense	possibly damaging	0.92
IGL02079:Gspt1	APN	16	11,240,829 (GRCm38)	missense	probably benign	0.17
IGL02122:Gspt1	APN	16	11,229,216 (GRCm38)	missense	probably damaging	1.00
IGL02525:Gspt1	APN	16	11,230,990 (GRCm38)	missense	probably damaging	1.00
IGL03092:Gspt1	APN	16	11,238,899 (GRCm38)	missense	probably benign	0.11
goliad	UTSW	16	11,224,542 (GRCm38)	missense	probably benign	0.04
R0835:Gspt1	UTSW	16	11,238,938 (GRCm38)	missense	probably benign
R1519:Gspt1	UTSW	16	11,220,855 (GRCm38)	missense	probably damaging	1.00
R3410:Gspt1	UTSW	16	11,229,245 (GRCm38)	missense	probably damaging	1.00
R4834:Gspt1	UTSW	16	11,222,717 (GRCm38)	missense	probably damaging	1.00
R4866:Gspt1	UTSW	16	11,222,665 (GRCm38)	missense	possibly damaging	0.69
R5121:Gspt1	UTSW	16	11,223,301 (GRCm38)	missense	probably damaging	0.99
R5408:Gspt1	UTSW	16	11,253,855 (GRCm38)	missense	probably benign
R5517:Gspt1	UTSW	16	11,253,979 (GRCm38)	missense	unknown
R5704:Gspt1	UTSW	16	11,228,193 (GRCm38)	missense	possibly damaging	0.89
R6224:Gspt1	UTSW	16	11,224,542 (GRCm38)	missense	probably benign	0.04
R6317:Gspt1	UTSW	16	11,223,208 (GRCm38)	splice site	probably null
R7069:Gspt1	UTSW	16	11,222,661 (GRCm38)	missense	probably damaging	1.00
R7151:Gspt1	UTSW	16	11,253,828 (GRCm38)	missense	probably benign	0.05
R7317:Gspt1	UTSW	16	11,222,657 (GRCm38)	missense	probably benign	0.01
R8137:Gspt1	UTSW	16	11,240,668 (GRCm38)	missense	probably benign	0.00
R9401:Gspt1	UTSW	16	11,232,671 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTCAGGAGACTCACAATAGCC -3'
(R):5'- AGGTAAGCTCAGATGCTCTGC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ACATGTCAGTGAAGTTACTGTTTCG -3'

Posted On

2017-12-01