Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Sart1'

294215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sart1

Ensembl Gene

ENSMUSG00000039148

Gene Name

squamous cell carcinoma antigen recognized by T cells 1

Synonyms

U5-110K

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

5427551-5438731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5430489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 753 (M753L)

Ref Sequence

ENSEMBL: ENSMUSP00000047397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044207]

AlphaFold

Q9Z315

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044207
AA Change: M753L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: M753L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	31	83	N/A	INTRINSIC
Pfam:SART-1	117	759	1.5e-151	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,187,377 (GRCm39)	K894R	probably benign	Het
Ampd1	C	T	3: 102,986,357 (GRCm39)	A12V	probably benign	Het
Ano4	T	A	10: 88,860,843 (GRCm39)	D345V	possibly damaging	Het
Arl6	A	G	16: 59,441,580 (GRCm39)		probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrn	C	T	2: 130,862,897 (GRCm39)	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,743,788 (GRCm39)	V238A	probably benign	Het
Cdh16	T	C	8: 105,348,606 (GRCm39)	T141A	probably damaging	Het
Cetn4	T	C	3: 37,363,305 (GRCm39)	D102G	probably damaging	Het
Col5a3	T	A	9: 20,688,292 (GRCm39)	N1256I	unknown	Het
Cyfip2	A	G	11: 46,112,225 (GRCm39)	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,250,490 (GRCm39)	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,731,990 (GRCm39)	S336A	probably damaging	Het
Dnah8	G	A	17: 31,049,819 (GRCm39)	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,478,694 (GRCm39)	V59A	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
F2	A	T	2: 91,463,332 (GRCm39)	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,666,660 (GRCm39)	R171H	probably damaging	Het
Fhod3	A	C	18: 25,199,332 (GRCm39)	S668R	probably benign	Het
Fkbp10	T	A	11: 100,306,843 (GRCm39)	F78L	probably damaging	Het
Garre1	T	C	7: 33,947,643 (GRCm39)	D455G	probably damaging	Het
Hyi	C	T	4: 118,219,810 (GRCm39)	R254C	probably benign	Het
Igfl3	A	T	7: 17,915,659 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,146,713 (GRCm39)	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,322,101 (GRCm39)	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,760,716 (GRCm39)	H115L	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mrpl15	T	C	1: 4,855,837 (GRCm39)	S22G	probably benign	Het
Nf1	T	C	11: 79,456,761 (GRCm39)	Y616H	possibly damaging	Het
Nf1	T	A	11: 79,302,502 (GRCm39)		probably benign	Het
Olig1	C	A	16: 91,067,041 (GRCm39)	Q93K	probably damaging	Het
Or13d1	T	A	4: 52,971,263 (GRCm39)	I214N	probably damaging	Het
Or1o1	A	T	17: 37,716,986 (GRCm39)	L182F	probably benign	Het
Or4f59	A	T	2: 111,873,056 (GRCm39)	V107E	possibly damaging	Het
Otoa	C	A	7: 120,730,590 (GRCm39)	L597M	possibly damaging	Het
Parp16	C	T	9: 65,141,051 (GRCm39)	P207L	possibly damaging	Het
Pbrm1	T	A	14: 30,754,467 (GRCm39)	D162E	probably benign	Het
Pramel21	T	A	4: 143,341,895 (GRCm39)	M108K	probably benign	Het
Prdm10	A	G	9: 31,264,685 (GRCm39)	I658V	possibly damaging	Het
Psg21	A	T	7: 18,386,556 (GRCm39)	H143Q	probably benign	Het
Rfx4	C	T	10: 84,676,014 (GRCm39)	R28W	probably damaging	Het
Smcr8	T	A	11: 60,670,548 (GRCm39)	D565E	probably benign	Het
Smyd4	T	A	11: 75,278,332 (GRCm39)		probably null	Het
Sned1	T	C	1: 93,189,386 (GRCm39)	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,027,399 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,697,534 (GRCm39)	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,819,427 (GRCm39)	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,216,212 (GRCm39)	V178I	possibly damaging	Het
Usp13	T	A	3: 32,985,865 (GRCm39)	Y175*	probably null	Het
Vwde	A	G	6: 13,190,684 (GRCm39)	V469A	probably damaging	Het

Other mutations in Sart1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Sart1	APN	19	5,433,979 (GRCm39)	missense	probably benign	0.00
IGL02533:Sart1	APN	19	5,433,749 (GRCm39)	nonsense	probably null
IGL03094:Sart1	APN	19	5,434,109 (GRCm39)	splice site	probably benign
R0219:Sart1	UTSW	19	5,438,424 (GRCm39)	missense	probably benign
R0226:Sart1	UTSW	19	5,431,150 (GRCm39)	splice site	probably benign
R0304:Sart1	UTSW	19	5,430,559 (GRCm39)	splice site	probably benign
R0537:Sart1	UTSW	19	5,431,752 (GRCm39)	missense	probably damaging	0.99
R0668:Sart1	UTSW	19	5,434,284 (GRCm39)	missense	probably damaging	1.00
R1574:Sart1	UTSW	19	5,430,287 (GRCm39)	missense	probably damaging	1.00
R1574:Sart1	UTSW	19	5,430,287 (GRCm39)	missense	probably damaging	1.00
R1674:Sart1	UTSW	19	5,435,853 (GRCm39)	missense	probably damaging	0.99
R4077:Sart1	UTSW	19	5,432,771 (GRCm39)	missense	possibly damaging	0.48
R4866:Sart1	UTSW	19	5,432,248 (GRCm39)	missense	probably damaging	1.00
R5081:Sart1	UTSW	19	5,438,576 (GRCm39)	missense	possibly damaging	0.72
R5523:Sart1	UTSW	19	5,433,704 (GRCm39)	missense	probably damaging	0.99
R5756:Sart1	UTSW	19	5,430,497 (GRCm39)	missense	probably damaging	1.00
R5875:Sart1	UTSW	19	5,433,823 (GRCm39)	missense	probably damaging	1.00
R5979:Sart1	UTSW	19	5,431,251 (GRCm39)	missense	probably damaging	1.00
R7360:Sart1	UTSW	19	5,433,231 (GRCm39)	missense	probably damaging	0.96
R7560:Sart1	UTSW	19	5,434,905 (GRCm39)	missense	probably damaging	0.97
R7764:Sart1	UTSW	19	5,438,613 (GRCm39)	missense	probably damaging	1.00
R8426:Sart1	UTSW	19	5,433,769 (GRCm39)	missense	probably benign
R8517:Sart1	UTSW	19	5,433,225 (GRCm39)	missense	probably damaging	0.98
R8796:Sart1	UTSW	19	5,438,376 (GRCm39)	missense	probably damaging	1.00
R8927:Sart1	UTSW	19	5,438,529 (GRCm39)	missense	probably benign
R8928:Sart1	UTSW	19	5,438,529 (GRCm39)	missense	probably benign

Posted On

2015-04-16