Mutagenetix > Incidental Mutation

Incidental Mutation 'R6434:Gtse1'

518727

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

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6434 (G1)

Quality Score

108.008

Status

Validated

Chromosome

Chromosomal Location

85859745-85876573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85875169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 626 (T626K)

Ref Sequence

ENSEMBL: ENSMUSP00000155552 (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

noncoding transcript
Transcript: ENSMUST00000160733

SMART Domains

Protein: ENSMUSP00000125331
Gene: ENSMUSG00000022386

Domain	Start	End	E-Value	Type
Pfam:tRNA_Me_trans	4	34	8.2e-9	PFAM
Pfam:tRNA_Me_trans	41	104	5.6e-21	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

noncoding transcript
Transcript: ENSMUST00000162601

Predicted Effect

probably benign
Transcript: ENSMUST00000170629
AA Change: T626K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: T626K

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

noncoding transcript
Transcript: ENSMUST00000229871

Predicted Effect

probably benign
Transcript: ENSMUST00000231074
AA Change: T626K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	C	16: 52,288,827		probably null	Het
Ankle2	A	G	5: 110,253,893	Y807C	probably damaging	Het
Arhgef26	A	C	3: 62,428,914	M625L	probably damaging	Het
Aspdh	G	A	7: 44,467,050	A86T	probably damaging	Het
Atl1	G	T	12: 69,959,425	E502*	probably null	Het
Atp6v1c1	T	C	15: 38,677,546	F105S	probably damaging	Het
Auh	C	A	13: 52,929,410	G17C	probably benign	Het
Ccdc130	A	G	8: 84,263,001	I63T	probably damaging	Het
Ccdc81	T	C	7: 89,876,144	Y474C	probably damaging	Het
Ccdc82	T	C	9: 13,252,034		probably benign	Het
Ccdc96	T	G	5: 36,486,363	V571G	probably damaging	Het
Col6a5	C	A	9: 105,937,345	E489D	unknown	Het
Dchs2	T	A	3: 83,269,270	I845N	probably damaging	Het
Dnajc11	T	C	4: 151,979,294	V449A	probably damaging	Het
Ect2	A	T	3: 27,139,119	Y269*	probably null	Het
Egfr	T	C	11: 16,869,294	Y275H	probably benign	Het
Fan1	T	A	7: 64,354,381	D779V	probably damaging	Het
Fancm	T	C	12: 65,077,168	V200A	probably damaging	Het
Frem1	A	G	4: 82,966,016	I1214T	probably benign	Het
Gm3415	T	A	5: 146,557,942	F138L	probably benign	Het
Herc1	T	A	9: 66,486,182	H4114Q	probably damaging	Het
Ifi44	T	A	3: 151,749,189	N133I	probably benign	Het
Ilf3	A	G	9: 21,403,151		probably benign	Het
Inpp4a	A	G	1: 37,398,838	T593A	probably damaging	Het
Iqgap2	A	T	13: 95,682,933	W634R	possibly damaging	Het
Kcnh4	T	A	11: 100,750,279	N448I	probably damaging	Het
Klhl33	G	A	14: 50,893,107	A310V	probably damaging	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Lrig2	T	C	3: 104,491,547	K222E	possibly damaging	Het
Manba	G	A	3: 135,511,973		probably null	Het
Mga	A	T	2: 119,923,938	Q976L	probably damaging	Het
Mtmr4	A	G	11: 87,613,483	D1086G	probably damaging	Het
Muc20	A	G	16: 32,794,806	V67A	probably benign	Het
Myh3	T	A	11: 67,082,367	L97Q	probably damaging	Het
Nars	T	C	18: 64,507,801	T195A	probably benign	Het
Npat	A	T	9: 53,563,439	I844L	possibly damaging	Het
Nrxn3	T	C	12: 88,795,515	F111L	probably benign	Het
Obp2b	T	C	2: 25,738,587	Y118H	probably damaging	Het
Olfr1134	T	A	2: 87,656,214	K236*	probably null	Het
Olfr862	A	T	9: 19,883,845	Y153*	probably null	Het
Patj	A	G	4: 98,491,629	D215G	probably damaging	Het
Pex1	T	A	5: 3,630,196	Y979*	probably null	Het
Sept3	G	A	15: 82,279,603	V54I	possibly damaging	Het
Shc3	A	G	13: 51,449,290	Y260H	probably damaging	Het
Simc1	A	G	13: 54,526,664	T942A	probably benign	Het
Slco1c1	T	C	6: 141,547,850	S371P	probably damaging	Het
Snrnp200	T	A	2: 127,238,654	I2029N	probably damaging	Het
Syne1	A	G	10: 5,318,422	V2089A	probably benign	Het
Syne2	T	C	12: 76,041,456	S5016P	probably damaging	Het
Tril	G	C	6: 53,818,508	D576E	probably damaging	Het
Tubb2b	C	T	13: 34,127,578	A411T	probably damaging	Het
Ubr4	T	C	4: 139,429,638	Y2325H	probably damaging	Het
Utp20	A	T	10: 88,772,533	C1547*	probably null	Het
Utrn	A	T	10: 12,525,427	W98R	probably damaging	Het
Vps35	C	T	8: 85,273,495	D501N	possibly damaging	Het
Wdr48	T	C	9: 119,916,813	S421P	possibly damaging	Het
Zfp719	C	A	7: 43,590,988	H667N	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGCGATCGTATACGTTTTCC -3'
(R):5'- ATAGAGCTTCAGCCTGTCCC -3'

Sequencing Primer
(F):5'- TTTTCCCCCAGAGCAGAGCTG -3'
(R):5'- TAGAGCTTCAGCCTGTCCCTACTC -3'

Posted On

2018-05-24