Mutagenetix > Incidental Mutations

Incidental Mutation 'R0268:Sart3'

35060

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

038494-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R0268 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

113742446-113772510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113752399 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 461 (V461A)

Ref Sequence

ENSEMBL: ENSMUSP00000019118 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019118
AA Change: V461A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: V461A

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

0.3533

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,574,602		noncoding transcript	Het
5430419D17Rik	A	G	7: 131,238,176	D609G	probably damaging	Het
Aadacl4	A	T	4: 144,622,995	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,709,502		probably null	Het
Ap3m1	A	C	14: 21,037,102		probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,449,709	V302A	probably damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,849,125	I196V	probably benign	Het
Cdc42bpa	G	T	1: 180,155,782		probably benign	Het
Clec16a	T	A	16: 10,644,828	L670*	probably null	Het
Cmtm2b	A	G	8: 104,322,434	E27G	probably damaging	Het
Col4a1	T	A	8: 11,267,588		probably benign	Het
Cyp26b1	A	T	6: 84,574,572	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Dip2c	G	A	13: 9,637,150	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,684,193	C73R	probably benign	Het
Dnah8	A	G	17: 30,769,707	D3217G	probably damaging	Het
Dtx1	T	C	5: 120,681,291	E614G	probably damaging	Het
Dut	C	A	2: 125,257,091	A166E	probably damaging	Het
Ebf1	C	A	11: 44,643,413	D166E	probably damaging	Het
Egln2	A	T	7: 27,165,247	D84E	possibly damaging	Het
Exosc7	T	A	9: 123,118,960	S65T	probably benign	Het
Fam83e	G	A	7: 45,726,910	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fras1	A	G	5: 96,737,009	N2582S	probably damaging	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gfral	A	T	9: 76,197,101	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,232,694		probably benign	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Hcn4	A	C	9: 58,860,162	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,228,188	V449A	probably benign	Het
Hectd1	C	A	12: 51,769,107	S1394I	probably damaging	Het
Hectd1	T	C	12: 51,769,108	S1394G	possibly damaging	Het
Hecw2	A	G	1: 53,926,698		probably benign	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,700,333	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,594,959	Y356*	probably null	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Klhl35	T	A	7: 99,471,751	S409T	probably benign	Het
Krt16	T	A	11: 100,246,525		probably benign	Het
Krt82	C	A	15: 101,541,713	R516L	probably benign	Het
Lce3a	A	T	3: 92,925,731	C21S	unknown	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Map2	A	T	1: 66,380,722	K71*	probably null	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,314,325	R157*	probably null	Het
Nat10	C	A	2: 103,727,917		probably benign	Het
Obscn	G	A	11: 59,067,272	T3810M	possibly damaging	Het
Olfr1161	A	T	2: 88,025,468	I249F	probably damaging	Het
Olfr1354	C	T	10: 78,917,605	T255I	probably damaging	Het
Olfr1375	T	A	11: 51,048,941	M278K	probably damaging	Het
Olfr525	G	A	7: 140,323,155	S152N	possibly damaging	Het
Olfr799	A	T	10: 129,647,176	D16V	possibly damaging	Het
Olfr998	A	G	2: 85,591,301	T254A	possibly damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Pgm1	T	A	5: 64,105,808	V266E	probably damaging	Het
Phip	G	A	9: 82,871,288	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,273,381		probably benign	Het
Ppp1r32	A	G	19: 10,477,085	V329A	possibly damaging	Het
Ptprq	A	T	10: 107,705,548	D372E	probably benign	Het
Ptprr	G	A	10: 116,252,963	V340I	possibly damaging	Het
Qk	A	G	17: 10,209,646		probably benign	Het
Qpct	T	A	17: 79,077,652	D240E	probably benign	Het
Ren1	A	G	1: 133,355,611	T162A	possibly damaging	Het
Rif1	T	C	2: 52,090,286		probably null	Het
Scgb1b24	G	A	7: 33,743,853	G19R	probably null	Het
Spen	A	T	4: 141,477,557	I1253N	unknown	Het
Sspo	C	A	6: 48,465,555	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Togaram2	T	C	17: 71,697,998		probably null	Het
Trim65	T	A	11: 116,126,644		probably benign	Het
Trpm3	T	A	19: 22,897,521		probably null	Het
Ubxn7	T	C	16: 32,360,046	I87T	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r102	A	G	17: 19,677,850	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,208,676	C713S	probably benign	Het
Zbtb45	C	T	7: 13,008,327	M1I	probably null	Het
Zfp229	A	T	17: 21,745,841	M351L	probably benign	Het
Zfp932	T	C	5: 110,009,063	I176T	probably benign	Het
Zswim1	G	A	2: 164,826,126	E433K	probably damaging	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
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	splice site	probably null
R5903:Sart3	UTSW	5	113751239	missense	probably damaging	0.98
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
R7580:Sart3	UTSW	5	113754379	splice site	probably null
R7637:Sart3	UTSW	5	113771352	missense	probably benign	0.14
R8146:Sart3	UTSW	5	113747957	missense	probably damaging	0.98
R8241:Sart3	UTSW	5	113745968	missense	probably benign	0.32
X0058:Sart3	UTSW	5	113745928	missense	probably benign
Z1176:Sart3	UTSW	5	113745824	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGTGAAAACGCTCACCTCAAC -3'
(R):5'- AGGAAAATCCTGGGTCACACGCTG -3'

Sequencing Primer
(F):5'- GCTCACCTCAACCCGAG -3'
(R):5'- ACGCTGCTCCATACAGTC -3'

Posted On

2013-05-09