Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Sart1'

571289

Institutional Source

Beutler Lab

Gene Symbol

Sart1

Ensembl Gene

ENSMUSG00000039148

Gene Name

squamous cell carcinoma antigen recognized by T cells 1

Synonyms

U5-110K

MMRRC Submission

045446-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5427551-5438731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5433231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 422 (D422G)

Ref Sequence

ENSEMBL: ENSMUSP00000047397 (fasta)

Gene Model

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

AlphaFold

Q9Z315

Predicted Effect

probably damaging
Transcript: ENSMUST00000044207
AA Change: D422G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: D422G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	C	4: 106,606,548 (GRCm39)	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,355,626 (GRCm39)	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,274,835 (GRCm39)	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,209,940 (GRCm39)	W61*	probably null	Het
Brd9	C	T	13: 74,092,942 (GRCm39)	R311W	probably benign	Het
Cdkn1c	T	C	7: 143,014,431 (GRCm39)	D5G	possibly damaging	Het
Cerk	A	G	15: 86,043,327 (GRCm39)	F158S	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cnot4	T	A	6: 35,041,941 (GRCm39)	E235V	probably damaging	Het
Crmp1	T	C	5: 37,433,624 (GRCm39)	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,285,683 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,114,394 (GRCm39)	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 120,304,090 (GRCm39)	T43A	probably benign	Het
Eaf2	C	T	16: 36,648,514 (GRCm39)	S2N	probably benign	Het
Eif2b4	T	C	5: 31,348,719 (GRCm39)	D164G	probably benign	Het
Fpgs	T	C	2: 32,584,005 (GRCm39)	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,968,691 (GRCm39)	Q248*	probably null	Het
Gm29666	C	T	15: 84,798,469 (GRCm39)	A31T	unknown	Het
Gmip	C	A	8: 70,263,892 (GRCm39)	A112D	probably damaging	Het
Hibadh	C	T	6: 52,617,197 (GRCm39)	G13S	probably benign	Het
Hmcn1	A	T	1: 150,494,597 (GRCm39)	V4164D	probably damaging	Het
Kif15	A	T	9: 122,820,202 (GRCm39)	N580I	probably benign	Het
Krt25	G	A	11: 99,208,232 (GRCm39)	T332M	probably benign	Het
Krt88	G	T	15: 101,345,643 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,615,858 (GRCm39)		probably null	Het
Mapkapk5	A	G	5: 121,675,169 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,474,460 (GRCm39)	S1725L	probably benign	Het
Nckap1l	T	G	15: 103,384,526 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,893,277 (GRCm39)		probably null	Het
Obscn	A	C	11: 58,973,185 (GRCm39)	V1996G	probably damaging	Het
Or14j8	T	A	17: 38,263,900 (GRCm39)	N5I	probably damaging	Het
Or4a66	A	T	2: 88,531,331 (GRCm39)	V114E	probably damaging	Het
Parp8	T	C	13: 117,032,307 (GRCm39)	T289A	probably benign	Het
Pcsk5	T	C	19: 17,492,577 (GRCm39)	K932R	probably benign	Het
Pde4dip	T	C	3: 97,625,632 (GRCm39)	D1322G	probably benign	Het
Peli3	A	T	19: 4,985,103 (GRCm39)	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,812,181 (GRCm39)	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,360,621 (GRCm39)	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,541,272 (GRCm39)	T474A	probably benign	Het
Ptger3	T	C	3: 157,272,764 (GRCm39)	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,906 (GRCm39)	S999P	probably damaging	Het
Pygl	C	T	12: 70,274,306 (GRCm39)	G18S	probably benign	Het
Rest	T	C	5: 77,428,976 (GRCm39)	V465A	probably benign	Het
Sgk1	A	G	10: 21,869,972 (GRCm39)	M4V	probably benign	Het
Slc33a1	A	G	3: 63,855,075 (GRCm39)	V395A	possibly damaging	Het
Slc38a11	A	T	2: 65,184,139 (GRCm39)	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,634,713 (GRCm39)	S76T	probably benign	Het
Spata31h1	T	C	10: 82,132,341 (GRCm39)	D223G	unknown	Het
Ssc4d	T	A	5: 135,994,965 (GRCm39)	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,669,347 (GRCm39)	Y1540C	probably benign	Het
Ube3a	T	A	7: 58,926,383 (GRCm39)	L408Q	probably damaging	Het
Usp43	C	A	11: 67,767,155 (GRCm39)		probably null	Het
Zan	A	C	5: 137,385,232 (GRCm39)	V5067G	unknown	Het
Zfp180	C	A	7: 23,804,915 (GRCm39)	L445I	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
IGL02390:Sart1	APN	19	5,430,489 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- TCGAGTGTCATCCGATGGTG -3'
(R):5'- CTGAGCAGTAAATGGCAGCC -3'

Sequencing Primer
(F):5'- AAGGGCCTCCTCCTCCAC -3'
(R):5'- AGTCACTTAGCTGAGCCTGG -3'

Posted On

2019-09-13