Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Gtse1'

295795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtse1

Ensembl Gene

ENSMUSG00000022385

Gene Name

G two S phase expressed protein 1

Synonyms

B99, Gtse-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

85859745-85876573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85867503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 299 (P299L)

Ref Sequence

ENSEMBL: ENSMUSP00000155552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170629] [ENSMUST00000231074]

AlphaFold

Q8R080

Predicted Effect

probably damaging
Transcript: ENSMUST00000170629
AA Change: P299L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: P299L

Domain	Start	End	E-Value	Type
Pfam:GTSE1_N	10	153	3e-62	PFAM
low complexity region	284	301	N/A	INTRINSIC
low complexity region	310	321	N/A	INTRINSIC
low complexity region	360	372	N/A	INTRINSIC
low complexity region	478	497	N/A	INTRINSIC
low complexity region	568	593	N/A	INTRINSIC
low complexity region	644	653	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231074
AA Change: P299L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,151,923	R242G	probably benign	Het
Ash1l	T	A	3: 89,066,218	L2528*	probably null	Het
Astn2	T	A	4: 65,992,348	M468L	probably benign	Het
Bglap2	A	T	3: 88,377,936	C74*	probably null	Het
Cand1	A	G	10: 119,213,617	V408A	probably benign	Het
Ccdc14	A	G	16: 34,723,414	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,945,475	G707D	probably benign	Het
Cdk13	G	A	13: 17,739,125	R890*	probably null	Het
Cep192	A	G	18: 67,804,383	E61G	probably benign	Het
Ctdspl	T	C	9: 119,037,416	L181P	probably damaging	Het
Dock7	C	T	4: 98,989,234	V442M	probably benign	Het
Dopey1	T	C	9: 86,526,818	V1860A	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fscn2	G	A	11: 120,362,402	V232M	probably benign	Het
Gemin5	A	T	11: 58,121,757	C1458S	probably benign	Het
Glrb	A	G	3: 80,845,232	V408A	probably benign	Het
Hcfc1r1	T	A	17: 23,674,585	M46K	probably damaging	Het
Hdc	A	G	2: 126,594,121	F610S	probably benign	Het
Hip1	A	T	5: 135,444,791	C224*	probably null	Het
Hsd17b10	G	T	X: 152,004,234	A241S	probably benign	Het
Igsf10	G	T	3: 59,328,006	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,653,205	Y514H	probably damaging	Het
Krt78	T	C	15: 101,954,051	I58M	probably benign	Het
Lcat	C	A	8: 105,941,939		probably benign	Het
Naca	G	A	10: 128,041,310		probably benign	Het
Nbea	T	C	3: 55,805,351	K2102E	probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1272	G	A	2: 90,281,951	S208F	probably benign	Het
Olfr371	C	A	8: 85,230,683	L63I	possibly damaging	Het
Olfr395	A	C	11: 73,906,724	I256S	possibly damaging	Het
Olfr732	A	T	14: 50,282,226	V9D	probably damaging	Het
Patj	T	A	4: 98,703,987		probably benign	Het
Pcdhb17	G	A	18: 37,485,294	A46T	possibly damaging	Het
Phf8	T	C	X: 151,625,231	V859A	probably benign	Het
Plec	T	A	15: 76,176,779	E3054V	probably damaging	Het
Prr12	C	A	7: 45,028,846	K1958N	unknown	Het
Psmf1	A	G	2: 151,741,009		probably null	Het
Rsu1	T	C	2: 13,217,191		probably null	Het
Samm50	T	C	15: 84,195,814	V31A	probably benign	Het
St14	A	G	9: 31,108,645	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,708,307	N699S	probably damaging	Het
Ttn	A	T	2: 76,743,800	M25583K	probably damaging	Het
Utrn	A	G	10: 12,710,054	V993A	probably benign	Het

Other mutations in Gtse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gtse1	APN	15	85868817	missense	possibly damaging	0.54
IGL01344:Gtse1	APN	15	85862066	critical splice acceptor site	probably null
IGL01541:Gtse1	APN	15	85875654	nonsense	probably null
IGL01621:Gtse1	APN	15	85875082	missense	probably benign	0.01
IGL01945:Gtse1	APN	15	85871547	missense	probably benign	0.00
IGL02193:Gtse1	APN	15	85862330	missense	probably benign	0.27
IGL02215:Gtse1	APN	15	85862598	missense	possibly damaging	0.92
IGL02879:Gtse1	APN	15	85869063	splice site	probably benign
R0009:Gtse1	UTSW	15	85862435	missense	probably benign	0.06
R0047:Gtse1	UTSW	15	85862378	missense	probably damaging	1.00
R0047:Gtse1	UTSW	15	85862378	missense	probably damaging	1.00
R0576:Gtse1	UTSW	15	85869051	missense	probably damaging	1.00
R1078:Gtse1	UTSW	15	85862307	missense	probably damaging	0.98
R1442:Gtse1	UTSW	15	85860102	splice site	probably benign
R1623:Gtse1	UTSW	15	85867578	missense	probably benign
R1925:Gtse1	UTSW	15	85873738	missense	probably benign	0.00
R1928:Gtse1	UTSW	15	85862063	splice site	probably benign
R4565:Gtse1	UTSW	15	85875184	missense	probably damaging	0.99
R5170:Gtse1	UTSW	15	85864264	critical splice donor site	probably null
R5310:Gtse1	UTSW	15	85873792	missense	probably benign	0.04
R5428:Gtse1	UTSW	15	85862139	missense	probably benign	0.12
R5748:Gtse1	UTSW	15	85867577	missense	probably benign
R5996:Gtse1	UTSW	15	85864180	missense	probably benign	0.00
R6179:Gtse1	UTSW	15	85868957	missense	possibly damaging	0.95
R6379:Gtse1	UTSW	15	85864224	missense	probably benign	0.01
R6381:Gtse1	UTSW	15	85862148	missense	probably benign	0.00
R6434:Gtse1	UTSW	15	85875169	missense	probably benign	0.21
R7086:Gtse1	UTSW	15	85875549	missense	probably damaging	1.00
R7304:Gtse1	UTSW	15	85871547	missense	probably benign	0.00
R7485:Gtse1	UTSW	15	85868700	missense	probably benign	0.04
R7580:Gtse1	UTSW	15	85862231	missense	probably damaging	1.00
R7856:Gtse1	UTSW	15	85864141	missense	probably benign	0.09
R8496:Gtse1	UTSW	15	85862082	missense	probably damaging	1.00
R8674:Gtse1	UTSW	15	85862175	missense	probably damaging	1.00
R8987:Gtse1	UTSW	15	85868908	missense	probably benign	0.00
R9491:Gtse1	UTSW	15	85871533	missense	probably damaging	1.00
R9642:Gtse1	UTSW	15	85867496	missense	probably damaging	0.98
Z1176:Gtse1	UTSW	15	85868746	missense	possibly damaging	0.85
Z1177:Gtse1	UTSW	15	85875737	missense	probably damaging	0.96

Posted On

2015-04-16