Mutagenetix > Incidental Mutation

Incidental Mutation 'R5756:Sart1'

445075

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

043359-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5427551-5438731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5430497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 750 (E750G)

Ref Sequence

ENSEMBL: ENSMUSP00000047397 (fasta)

Gene Model

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

AlphaFold

Q9Z315

Predicted Effect

probably damaging
Transcript: ENSMUST00000044207
AA Change: E750G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: E750G

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

Meta Mutation Damage Score

0.7593

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,010,919 (GRCm39)		noncoding transcript	Het
Aqp6	A	T	15: 99,500,623 (GRCm39)	I183F	probably damaging	Het
Asap1	A	T	15: 64,039,556 (GRCm39)	M218K	probably damaging	Het
Astn2	G	A	4: 66,037,425 (GRCm39)		probably benign	Het
Bmp5	A	G	9: 75,683,649 (GRCm39)	D92G	probably benign	Het
Cables1	A	G	18: 12,074,410 (GRCm39)	D511G	probably damaging	Het
Cacna1e	A	G	1: 154,347,383 (GRCm39)	M928T	probably benign	Het
Calcoco1	T	C	15: 102,628,086 (GRCm39)	N16S	probably benign	Het
Catspere2	A	T	1: 177,943,793 (GRCm39)	Q710L	unknown	Het
Coro7	C	T	16: 4,450,148 (GRCm39)	R567Q	probably damaging	Het
Dgki	C	T	6: 36,913,993 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,929,339 (GRCm39)	I147V	probably damaging	Het
Eif2ak4	T	C	2: 118,293,221 (GRCm39)	I1259T	possibly damaging	Het
Elapor2	A	C	5: 9,512,995 (GRCm39)	K996N	probably damaging	Het
Etfdh	T	C	3: 79,521,063 (GRCm39)	I219V	probably benign	Het
Ffar4	C	T	19: 38,102,406 (GRCm39)	T347I	probably damaging	Het
Fgf3	G	A	7: 144,396,688 (GRCm39)	S234N	probably benign	Het
Fnta	A	T	8: 26,499,735 (GRCm39)	I155N	possibly damaging	Het
Gcm2	G	A	13: 41,263,372 (GRCm39)	T20M	probably damaging	Het
Ggt5	A	T	10: 75,440,607 (GRCm39)	M243L	probably benign	Het
Ggta1	T	C	2: 35,292,395 (GRCm39)	Y304C	probably damaging	Het
Gm5454	A	G	13: 103,492,855 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hrc	T	C	7: 44,986,130 (GRCm39)	V427A	possibly damaging	Het
Ibtk	C	G	9: 85,613,307 (GRCm39)	V219L	possibly damaging	Het
Ift140	A	G	17: 25,247,787 (GRCm39)	H215R	possibly damaging	Het
Itln1	A	G	1: 171,344,485 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,973,754 (GRCm39)	I368T	probably damaging	Het
Lars2	T	C	9: 123,267,264 (GRCm39)	Y529H	probably damaging	Het
Lrrc55	G	A	2: 85,026,727 (GRCm39)	T99I	probably benign	Het
Mycbp2	A	T	14: 103,371,410 (GRCm39)	I4156N	probably damaging	Het
Myo1c	T	G	11: 75,549,240 (GRCm39)	M137R	probably benign	Het
Or51i1	T	C	7: 103,670,889 (GRCm39)	D212G	probably damaging	Het
Or6c8b	A	G	10: 128,882,095 (GRCm39)	V279A	probably benign	Het
Or8b54	T	A	9: 38,686,554 (GRCm39)	M1K	probably null	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Phyhip	T	G	14: 70,704,532 (GRCm39)	C250W	probably damaging	Het
Pisd	G	A	5: 32,895,842 (GRCm39)	T412I	probably damaging	Het
Polr3c	T	C	3: 96,621,450 (GRCm39)	N444S	probably damaging	Het
Sh3rf3	T	C	10: 58,940,204 (GRCm39)	V675A	probably damaging	Het
Slc4a11	G	T	2: 130,529,783 (GRCm39)	D307E	probably benign	Het
Slc6a16	A	T	7: 44,910,274 (GRCm39)	I315F	possibly damaging	Het
Smarca5	A	C	8: 81,437,233 (GRCm39)	S708A	probably benign	Het
Sv2c	T	C	13: 96,122,475 (GRCm39)	I434V	probably benign	Het
Tars3	A	G	7: 65,325,724 (GRCm39)	K433E	probably benign	Het
Tbx15	A	T	3: 99,220,402 (GRCm39)	I165F	probably damaging	Het
Tep1	C	T	14: 51,074,836 (GRCm39)		probably null	Het
Tex15	G	A	8: 34,065,861 (GRCm39)	G1764S	probably benign	Het
Tnfrsf19	A	G	14: 61,262,224 (GRCm39)	L13P	probably benign	Het
Tnnt3	G	A	7: 142,056,495 (GRCm39)		probably null	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Usp24	T	A	4: 106,219,680 (GRCm39)	I597K	probably damaging	Het
Usp40	C	T	1: 87,879,413 (GRCm39)	R960Q	possibly damaging	Het
Vps53	A	T	11: 75,983,156 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,249,927 (GRCm39)	T699I	probably damaging	Het
Zfp81	A	C	17: 33,553,307 (GRCm39)	Y502*	probably null	Het
Zfyve26	T	A	12: 79,311,131 (GRCm39)	H145L	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGCTTCTCCTGGAGCAG -3'
(R):5'- CATTAACTCCAGCTCCCAGAGG -3'

Sequencing Primer
(F):5'- TTCTCCTGGAGCAGTGCCAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2016-11-21