Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00092:Sart3'

1636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sart3

Ensembl Gene

ENSMUSG00000018974

Gene Name

squamous cell carcinoma antigen recognized by T cells 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

113742446-113772510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113746669 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 625 (R625G)

Ref Sequence

ENSEMBL: ENSMUSP00000019118 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019118
AA Change: R625G

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

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: R625G

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

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: ENSMUST00000198246

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,928,695	D443G	probably benign	Het
Atg16l1	T	C	1: 87,765,397	I28T	possibly damaging	Het
Bpi	T	A	2: 158,274,796	V371E	probably damaging	Het
Cd109	T	G	9: 78,616,969	V55G	probably damaging	Het
Cd300c2	T	C	11: 115,001,549		probably benign	Het
Cic	C	T	7: 25,292,124	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,242,184		probably benign	Het
Cntn4	G	T	6: 106,506,225	C247F	probably damaging	Het
Disp3	C	T	4: 148,241,534	V1256I	probably benign	Het
Farsb	A	T	1: 78,462,993	S338T	probably benign	Het
Fcnb	T	C	2: 28,076,801	N240S	probably benign	Het
Flg2	A	G	3: 93,219,855	S5G	possibly damaging	Het
Git1	T	C	11: 77,505,957	L635P	probably benign	Het
Gm21985	T	G	2: 112,351,334	W685G	probably damaging	Het
Gpt2	T	C	8: 85,512,324	V262A	probably benign	Het
Hecw2	A	G	1: 53,830,737	V1444A	probably damaging	Het
Herc1	T	C	9: 66,483,966	V4017A	probably benign	Het
Klhl17	T	C	4: 156,233,690	T129A	possibly damaging	Het
Krt84	T	G	15: 101,528,735	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,486,243	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,344,319	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myocd	T	C	11: 65,180,944		probably null	Het
Nid1	A	G	13: 13,476,392	N505D	probably damaging	Het
Ninj1	A	T	13: 49,193,734		probably null	Het
Olfr1375	C	A	11: 51,048,400	Q98K	probably benign	Het
Olfr1426	A	T	19: 12,087,993	D266E	probably benign	Het
Olfr307	C	T	7: 86,336,061	V112I	probably benign	Het
Plscr2	T	A	9: 92,290,632		probably benign	Het
Ppfia2	A	G	10: 106,819,492	T307A	probably benign	Het
Sohlh2	T	A	3: 55,207,815	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,190,054	S877P	probably damaging	Het
Stat1	T	C	1: 52,122,595	M1T	probably null	Het
Szt2	C	T	4: 118,384,250		probably benign	Het
Tarsl2	G	T	7: 65,652,259		probably null	Het
Terb2	T	A	2: 122,198,386	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,060,123	Y177C	probably damaging	Het
Trappc9	A	T	15: 73,026,026	I169N	possibly damaging	Het
Trim47	A	G	11: 116,106,194	L578P	probably damaging	Het
Usp34	G	A	11: 23,436,020	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,733,496	S641P	probably benign	Het
Vwa5a	T	A	9: 38,737,814		probably null	Het
Zzef1	T	A	11: 72,875,126	I1493N	probably benign	Het

Other mutations in Sart3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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	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

Posted On

2011-07-12