Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Sart3'

320839

Institutional Source

Beutler Lab

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4231 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

113742446-113772510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113771418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 73 (M73T)

Ref Sequence

ENSEMBL: ENSMUSP00000143778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000026937] [ENSMUST00000112311] [ENSMUST00000112312] [ENSMUST00000123616] [ENSMUST00000145592] [ENSMUST00000145778] [ENSMUST00000197041]

AlphaFold

Q9JLI8

Predicted Effect

probably benign
Transcript: ENSMUST00000019118
AA Change: M73T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: M73T

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

probably benign
Transcript: ENSMUST00000026937

SMART Domains

Protein: ENSMUSP00000026937
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	161	3.9e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112311

SMART Domains

Protein: ENSMUSP00000107930
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	149	1.1e-51	PFAM
low complexity region	170	188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112312

SMART Domains

Protein: ENSMUSP00000107931
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	149	3.4e-49	PFAM
low complexity region	170	188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123616

SMART Domains

Protein: ENSMUSP00000117973
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134881

Predicted Effect

probably benign
Transcript: ENSMUST00000145592

SMART Domains

Protein: ENSMUSP00000123237
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
Pfam:NifU_N	32	136	2.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145778

Predicted Effect

probably benign
Transcript: ENSMUST00000197041
AA Change: M73T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974
AA Change: M73T

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: ENSMUST00000199823

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	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
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
R8708:Sart3	UTSW	5	113744667	missense	possibly damaging	0.58
R9089:Sart3	UTSW	5	113753695	missense	possibly damaging	0.63
R9106:Sart3	UTSW	5	113754349	missense	possibly damaging	0.90
R9312:Sart3	UTSW	5	113762874	missense	possibly damaging	0.81
X0058:Sart3	UTSW	5	113745928	missense	probably benign
Z1176:Sart3	UTSW	5	113745824	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCGGTCTCCATAACCAC -3'
(R):5'- GAGTTTTGATCAGGCAGACGC -3'

Sequencing Primer
(F):5'- TCCATAACCACGGAGGACC -3'
(R):5'- ACGACGGCCGCATCTTC -3'

Posted On

2015-06-12