Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Gtse1'

161568

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

039497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85743946-85760774 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 85744303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	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
R0009:Gtse1	UTSW	15	85,746,636 (GRCm39)	missense	probably benign	0.06
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
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'- AGCTCAGAGCCGGAAATCCGTTAC -3'
(R):5'- CAGTGCAAGAGAAAGCTGTTGCC -3'

Sequencing Primer
(F):5'- GGAAATCCGTTACCCCGC -3'
(R):5'- gccattttgatagcacagcaac -3'

Posted On

2014-03-14