Mutagenetix > Incidental Mutations

Incidental Mutation 'R5903:Sart3'

456436

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

044101-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5903 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

113742446-113772510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113751239 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 508 (Y508C)

Ref Sequence

ENSEMBL: ENSMUSP00000019118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019118
AA Change: Y508C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: Y508C

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	11	33	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
HAT	127	159	1.76e1	SMART
HAT	165	196	4.82e-1	SMART
HAT	202	238	1.53e-3	SMART
low complexity region	269	281	N/A	INTRINSIC
HAT	325	357	1.78e-4	SMART
HAT	360	392	7.83e-1	SMART
HAT	395	431	7.56e0	SMART
HAT	488	521	7.31e-1	SMART
coiled coil region	554	619	N/A	INTRINSIC
low complexity region	626	640	N/A	INTRINSIC
RRM	705	778	1.87e-14	SMART
RRM	802	874	3.2e-22	SMART
Pfam:LSM_int_assoc	877	937	3.1e-28	PFAM
Pfam:Lsm_interact	944	961	2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196778

Predicted Effect

probably benign
Transcript: ENSMUST00000197041

SMART Domains

Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	11	33	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
HAT	127	159	1.76e1	SMART
HAT	165	196	4.82e-1	SMART
HAT	202	238	1.53e-3	SMART
low complexity region	269	281	N/A	INTRINSIC
Blast:HAT	292	323	1e-5	BLAST
HAT	325	357	1.33e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198556

Meta Mutation Damage Score

0.1604

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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 an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	Het

Other mutations in Sart3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Sart3	APN	5	113746669	missense	probably benign
IGL01309:Sart3	APN	5	113759250	missense	probably damaging	1.00
IGL01844:Sart3	APN	5	113745648	nonsense	probably null
IGL02147:Sart3	APN	5	113762943	splice site	probably benign
R0048:Sart3	UTSW	5	113755397	missense	possibly damaging	0.92
R0048:Sart3	UTSW	5	113755397	missense	possibly damaging	0.92
R0268:Sart3	UTSW	5	113752399	missense	probably damaging	0.99
R1703:Sart3	UTSW	5	113752219	missense	probably benign	0.22
R1704:Sart3	UTSW	5	113746007	missense	probably benign	0.14
R1998:Sart3	UTSW	5	113747921	critical splice donor site	probably null
R2142:Sart3	UTSW	5	113764093	missense	probably damaging	0.97
R3893:Sart3	UTSW	5	113746636	missense	probably benign	0.00
R3895:Sart3	UTSW	5	113752427	nonsense	probably null
R4231:Sart3	UTSW	5	113771418	missense	probably benign
R5367:Sart3	UTSW	5	113759216	splice site	probably null
R5488:Sart3	UTSW	5	113771380	missense	probably damaging	1.00
R5489:Sart3	UTSW	5	113771380	missense	probably damaging	1.00
R5668:Sart3	UTSW	5	113745156	unclassified	probably null
R6046:Sart3	UTSW	5	113755446	missense	probably damaging	1.00
R6173:Sart3	UTSW	5	113743206	missense	probably benign	0.11
R6215:Sart3	UTSW	5	113743206	missense	probably benign	0.11
R6216:Sart3	UTSW	5	113743206	missense	probably benign	0.11
R6221:Sart3	UTSW	5	113743206	missense	probably benign	0.11
R6222:Sart3	UTSW	5	113743206	missense	probably benign	0.11
R6320:Sart3	UTSW	5	113751240	missense	probably benign	0.34
R6824:Sart3	UTSW	5	113744539	splice site	probably null
R6978:Sart3	UTSW	5	113745746	missense	probably damaging	0.97
R7062:Sart3	UTSW	5	113745602	missense	possibly damaging	0.49
R7162:Sart3	UTSW	5	113762835	missense	probably damaging	1.00
R7165:Sart3	UTSW	5	113745995	missense	probably benign	0.01
R7222:Sart3	UTSW	5	113746656	missense	probably benign	0.01
R7235:Sart3	UTSW	5	113753642	missense	probably damaging	1.00
R7237:Sart3	UTSW	5	113754246	missense	possibly damaging	0.70
R7340:Sart3	UTSW	5	113744667	missense	probably benign	0.02
R7637:Sart3	UTSW	5	113771352	missense	probably benign	0.14
X0058:Sart3	UTSW	5	113745928	missense	probably benign
Z1176:Sart3	UTSW	5	113745824

Predicted Primers

PCR Primer
(F):5'- CCAGTCAGGCATGTTCAAAAC -3'
(R):5'- ACCTTCATGGCAAGAAGGAG -3'

Sequencing Primer
(F):5'- GTCAGGCATGTTCAAAACTCAAG -3'
(R):5'- AAGGAGTTTGTAGCCATGCC -3'

Posted On

2017-02-15