Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Gtse1'

40499

Institutional Source

Beutler Lab

Gene Symbol

Gtse1

Ensembl Gene

ENSMUSG00000022385

Gene Name

G two S phase expressed protein 1

Synonyms

B99, Gtse-1

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0009 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

85743946-85760774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85746636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 151 (P151S)

Ref Sequence

ENSEMBL: ENSMUSP00000155552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146088] [ENSMUST00000170629] [ENSMUST00000231074]

AlphaFold

Q8R080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133158

Predicted Effect

probably benign
Transcript: ENSMUST00000146088

SMART Domains

Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944

Domain	Start	End	E-Value	Type
SCOP:d1ld8a_	105	272	1e-7	SMART
low complexity region	342	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170629
AA Change: P151S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: P151S

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 benign
Transcript: ENSMUST00000231074
AA Change: P151S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,380,103 (GRCm39)	V14E	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm39)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	Het

Other mutations in Gtse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gtse1	APN	15	85,753,018 (GRCm39)	missense	possibly damaging	0.54
IGL01344:Gtse1	APN	15	85,746,267 (GRCm39)	critical splice acceptor site	probably null
IGL01541:Gtse1	APN	15	85,759,855 (GRCm39)	nonsense	probably null
IGL01621:Gtse1	APN	15	85,759,283 (GRCm39)	missense	probably benign	0.01
IGL01945:Gtse1	APN	15	85,755,748 (GRCm39)	missense	probably benign	0.00
IGL02193:Gtse1	APN	15	85,746,531 (GRCm39)	missense	probably benign	0.27
IGL02215:Gtse1	APN	15	85,746,799 (GRCm39)	missense	possibly damaging	0.92
IGL02494:Gtse1	APN	15	85,751,704 (GRCm39)	missense	probably damaging	1.00
IGL02879:Gtse1	APN	15	85,753,264 (GRCm39)	splice site	probably benign
R0047:Gtse1	UTSW	15	85,746,579 (GRCm39)	missense	probably damaging	1.00
R0047:Gtse1	UTSW	15	85,746,579 (GRCm39)	missense	probably damaging	1.00
R0576:Gtse1	UTSW	15	85,753,252 (GRCm39)	missense	probably damaging	1.00
R1078:Gtse1	UTSW	15	85,746,508 (GRCm39)	missense	probably damaging	0.98
R1442:Gtse1	UTSW	15	85,744,303 (GRCm39)	splice site	probably benign
R1623:Gtse1	UTSW	15	85,751,779 (GRCm39)	missense	probably benign
R1925:Gtse1	UTSW	15	85,757,939 (GRCm39)	missense	probably benign	0.00
R1928:Gtse1	UTSW	15	85,746,264 (GRCm39)	splice site	probably benign
R4565:Gtse1	UTSW	15	85,759,385 (GRCm39)	missense	probably damaging	0.99
R5170:Gtse1	UTSW	15	85,748,465 (GRCm39)	critical splice donor site	probably null
R5310:Gtse1	UTSW	15	85,757,993 (GRCm39)	missense	probably benign	0.04
R5428:Gtse1	UTSW	15	85,746,340 (GRCm39)	missense	probably benign	0.12
R5748:Gtse1	UTSW	15	85,751,778 (GRCm39)	missense	probably benign
R5996:Gtse1	UTSW	15	85,748,381 (GRCm39)	missense	probably benign	0.00
R6179:Gtse1	UTSW	15	85,753,158 (GRCm39)	missense	possibly damaging	0.95
R6379:Gtse1	UTSW	15	85,748,425 (GRCm39)	missense	probably benign	0.01
R6381:Gtse1	UTSW	15	85,746,349 (GRCm39)	missense	probably benign	0.00
R6434:Gtse1	UTSW	15	85,759,370 (GRCm39)	missense	probably benign	0.21
R7086:Gtse1	UTSW	15	85,759,750 (GRCm39)	missense	probably damaging	1.00
R7304:Gtse1	UTSW	15	85,755,748 (GRCm39)	missense	probably benign	0.00
R7485:Gtse1	UTSW	15	85,752,901 (GRCm39)	missense	probably benign	0.04
R7580:Gtse1	UTSW	15	85,746,432 (GRCm39)	missense	probably damaging	1.00
R7856:Gtse1	UTSW	15	85,748,342 (GRCm39)	missense	probably benign	0.09
R8496:Gtse1	UTSW	15	85,746,283 (GRCm39)	missense	probably damaging	1.00
R8674:Gtse1	UTSW	15	85,746,376 (GRCm39)	missense	probably damaging	1.00
R8987:Gtse1	UTSW	15	85,753,109 (GRCm39)	missense	probably benign	0.00
R9491:Gtse1	UTSW	15	85,755,734 (GRCm39)	missense	probably damaging	1.00
R9642:Gtse1	UTSW	15	85,751,697 (GRCm39)	missense	probably damaging	0.98
Z1176:Gtse1	UTSW	15	85,752,947 (GRCm39)	missense	possibly damaging	0.85
Z1177:Gtse1	UTSW	15	85,759,938 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGTGGAGGTGTACAAAGAAGCCC -3'
(R):5'- AACAGCCAGAGCCCAATGTGAG -3'

Sequencing Primer
(F):5'- TGGCCTTACAGATAGAAAGTCAC -3'
(R):5'- ATCGCAACTGTACTATGCCTGG -3'

Posted On

2013-05-23