Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Gtse1'

549920

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85859745-85876573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85875549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 647 (D647G)

Ref Sequence

ENSEMBL: ENSMUSP00000128759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491] [ENSMUST00000170629] [ENSMUST00000231074]

AlphaFold

Q8R080

Predicted Effect

probably benign
Transcript: ENSMUST00000023019

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386

Domain	Start	End	E-Value	Type
Pfam:NAD_synthase	1	133	7.7e-7	PFAM
Pfam:ThiI	3	79	7.7e-8	PFAM
Pfam:tRNA_Me_trans	5	383	3.4e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162491

SMART Domains

Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386

Domain	Start	End	E-Value	Type
Pfam:NAD_synthase	1	88	1.1e-8	PFAM
Pfam:Asn_synthase	1	90	3e-7	PFAM
Pfam:ThiI	3	84	1.6e-10	PFAM
Pfam:tRNA_Me_trans	5	88	2.9e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170629
AA Change: D647G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: D647G

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: D647G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1580

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,161,319	H28R	probably damaging	Het
Adgre4	T	C	17: 55,820,649	I563T	probably benign	Het
Ankub1	A	T	3: 57,690,325	C75S	probably damaging	Het
Antxrl	G	A	14: 34,065,916	V299I	probably benign	Het
Arfgef2	T	A	2: 166,876,616	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,351,063	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,349,416	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Chrng	C	A	1: 87,211,013	R455S	probably benign	Het
Cluh	T	A	11: 74,667,340	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 130,052,980		probably null	Het
Cpne5	G	A	17: 29,159,077	P576L	unknown	Het
Crocc	C	A	4: 141,047,057	V144L	possibly damaging	Het
Cubn	A	G	2: 13,319,858	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,915,289	F326L	probably benign	Het
Dclk1	G	A	3: 55,487,912		probably null	Het
Dnah7c	A	G	1: 46,750,125	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,708,532	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,918,703	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,826,575	V829I	probably benign	Het
H2-Q7	T	A	17: 35,439,485	V33E	probably damaging	Het
Hydin	A	G	8: 110,600,245	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,634,629	P175T	probably damaging	Het
Klhl10	T	C	11: 100,456,942	V608A	probably benign	Het
Klhl2	A	G	8: 64,823,012	Y80H	probably damaging	Het
Lnx2	A	T	5: 147,020,178		probably null	Het
Lst1	G	A	17: 35,185,286	H59Y	probably damaging	Het
Maats1	A	T	16: 38,306,857	F512L	possibly damaging	Het
Mphosph8	G	C	14: 56,668,523	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,009,457	S45R	possibly damaging	Het
Myh8	A	G	11: 67,292,627		probably null	Het
Odf3	A	G	7: 140,849,489	H151R	probably benign	Het
Olfr1263	A	G	2: 90,015,250	I107V	probably benign	Het
Olfr533	A	G	7: 140,466,428	T76A	possibly damaging	Het
Phox2a	A	G	7: 101,818,511	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,820,116	S540P	probably damaging	Het
Plcb4	A	G	2: 136,007,847	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,831,435	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,317,853	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,477,283	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,581,970	V668A	probably damaging	Het
Rapgef2	A	G	3: 79,086,046	S712P	probably benign	Het
Rcc2	T	C	4: 140,707,969	C100R	probably benign	Het
Recql4	C	A	15: 76,705,553	G764V	unknown	Het
Rlbp1	A	G	7: 79,380,065	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,870,906	T261A	probably benign	Het
Sgtb	T	C	13: 104,118,416	S65P	possibly damaging	Het
Spag9	T	C	11: 94,097,864	V920A	probably benign	Het
Spata31	T	A	13: 64,922,229	S730R	probably benign	Het
Spta1	C	T	1: 174,199,484	A841V	probably damaging	Het
St5	A	G	7: 109,525,574	I1083T	probably damaging	Het
Tnfaip1	T	C	11: 78,525,439	S273G	probably benign	Het
Vezf1	T	C	11: 88,078,538	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,447,117	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,497,309	T24K	probably benign	Het
Wdr43	G	A	17: 71,616,439	G60D	probably benign	Het
Xkr4	G	A	1: 3,216,962	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,971,510	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,592,937	K403R	probably damaging	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
IGL02494:Gtse1	APN	15	85867503	missense	probably damaging	1.00
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
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
Z1176:Gtse1	UTSW	15	85868746	missense	possibly damaging	0.85
Z1177:Gtse1	UTSW	15	85875737	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAGGCTGAAGCTCTATACTAGC -3'
(R):5'- AAGTCAGCACGAATCCCCTG -3'

Sequencing Primer
(F):5'- ATACTAGCTGTGGGTAGGGGTACAC -3'
(R):5'- AGCTCAGCCTTTGCAGG -3'

Posted On

2019-05-15