Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Sart1'

481354

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

044161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5979 (G1)

Quality Score

142.008

Status

Validated

Chromosome

Chromosomal Location

5427551-5438731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5431251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 681 (I681F)

Ref Sequence

ENSEMBL: ENSMUSP00000047397 (fasta)

Gene Model

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

AlphaFold

Q9Z315

Predicted Effect

probably damaging
Transcript: ENSMUST00000044207
AA Change: I681F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: I681F

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

0.6758

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,364,029 (GRCm39)	I103V	possibly damaging	Het
Adam3	T	C	8: 25,167,383 (GRCm39)	N36S	probably benign	Het
Adamts3	A	G	5: 90,009,528 (GRCm39)	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,681,860 (GRCm39)	L69*	probably null	Het
Alkbh5	T	A	11: 60,429,517 (GRCm39)	I90N	probably damaging	Het
Alx1	T	C	10: 102,858,120 (GRCm39)	Y193C	probably damaging	Het
Ankrd11	T	G	8: 123,619,139 (GRCm39)	D1571A	probably damaging	Het
Brd4	T	C	17: 32,417,700 (GRCm39)	D124G	probably benign	Het
C2cd2	G	A	16: 97,676,418 (GRCm39)	T443I	probably benign	Het
Casp8	A	T	1: 58,868,071 (GRCm39)	M171L	probably benign	Het
Cd200r4	G	A	16: 44,653,295 (GRCm39)	V22I	probably benign	Het
Cdcp2	A	G	4: 106,962,478 (GRCm39)	Y217C	probably damaging	Het
Cfh	C	A	1: 140,046,409 (GRCm39)	V556F	possibly damaging	Het
Chka	T	G	19: 3,934,513 (GRCm39)	I182M	probably damaging	Het
Cope	T	C	8: 70,755,193 (GRCm39)		probably null	Het
Coq10b	T	C	1: 55,092,077 (GRCm39)	V15A	probably benign	Het
Cpne9	T	A	6: 113,270,710 (GRCm39)	S309T	probably benign	Het
Daam2	T	A	17: 49,766,232 (GRCm39)	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393 (GRCm39)		probably null	Het
Dhx35	G	T	2: 158,684,789 (GRCm39)	R536L	probably benign	Het
Dnah8	G	T	17: 31,034,638 (GRCm39)	E4186*	probably null	Het
Dnah9	A	G	11: 65,725,307 (GRCm39)	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,312,012 (GRCm39)		probably null	Het
Dst	T	A	1: 34,199,453 (GRCm39)		probably benign	Het
Ehbp1	C	A	11: 22,101,887 (GRCm39)	V214L	probably benign	Het
Fam131b	T	C	6: 42,298,905 (GRCm39)	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,787,089 (GRCm39)	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,254,931 (GRCm39)	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,687,951 (GRCm39)		probably null	Het
Gprin1	G	A	13: 54,887,791 (GRCm39)	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149 (GRCm39)	F183I	probably damaging	Het
Hmx2	A	G	7: 131,156,279 (GRCm39)	T82A	probably benign	Het
Igsf10	C	T	3: 59,243,894 (GRCm39)	E147K	probably damaging	Het
Kndc1	G	A	7: 139,519,740 (GRCm39)	A1700T	probably benign	Het
Knl1	T	C	2: 118,899,841 (GRCm39)	V514A	possibly damaging	Het
Lama2	T	C	10: 27,111,728 (GRCm39)	D764G	probably damaging	Het
Lgi3	G	A	14: 70,773,900 (GRCm39)	R358H	probably damaging	Het
Limd1	G	T	9: 123,308,479 (GRCm39)	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,657,148 (GRCm39)	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,813,393 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,123 (GRCm39)	N185S	probably benign	Het
Muc2	A	G	7: 141,283,493 (GRCm39)		probably null	Het
Muc2	G	A	7: 141,305,143 (GRCm39)	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,439,797 (GRCm39)	F458S	probably benign	Het
Nop58	A	T	1: 59,741,990 (GRCm39)	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,395,631 (GRCm39)	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,307,862 (GRCm39)	N322S	probably benign	Het
Ocstamp	A	G	2: 165,239,467 (GRCm39)	S240P	probably damaging	Het
Or10a5	G	A	7: 106,635,543 (GRCm39)	M60I	probably damaging	Het
Or2j3	T	C	17: 38,616,083 (GRCm39)	K90E	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,666 (GRCm39)	H242R	probably damaging	Het
Ovch2	G	A	7: 107,393,595 (GRCm39)	T177I	possibly damaging	Het
Parn	A	C	16: 13,424,035 (GRCm39)	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,571,044 (GRCm39)	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,844,827 (GRCm39)	F1377L	probably damaging	Het
Pign	G	T	1: 105,516,999 (GRCm39)	S542R	probably benign	Het
Prex2	G	T	1: 11,202,596 (GRCm39)	V502F	probably damaging	Het
Psmd1	A	T	1: 86,017,775 (GRCm39)	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,306,616 (GRCm39)	E2G	probably benign	Het
R3hdm1	A	G	1: 128,138,960 (GRCm39)	N380S	probably benign	Het
Rbm12	A	C	2: 155,939,679 (GRCm39)		probably benign	Het
Rgl1	A	G	1: 152,433,244 (GRCm39)	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,532,632 (GRCm39)	S457P	probably damaging	Het
Sall4	A	T	2: 168,592,263 (GRCm39)	S964T	probably benign	Het
Serinc5	T	C	13: 92,797,644 (GRCm39)	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,439,036 (GRCm39)	V154A	probably benign	Het
Skic2	A	T	17: 35,060,439 (GRCm39)	N851K	probably benign	Het
Smox	G	A	2: 131,358,334 (GRCm39)	V136I	probably damaging	Het
Sspo	C	T	6: 48,440,627 (GRCm39)	T1747I	probably benign	Het
Swt1	A	T	1: 151,283,339 (GRCm39)	D339E	possibly damaging	Het
Synpo2	A	G	3: 122,911,060 (GRCm39)	L195P	probably damaging	Het
Syt7	G	T	19: 10,420,843 (GRCm39)	G414W	probably damaging	Het
Tmem186	G	A	16: 8,454,024 (GRCm39)	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,396,106 (GRCm39)	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239 (GRCm39)	V326M	probably damaging	Het
Trim58	A	G	11: 58,536,909 (GRCm39)	E234G	probably damaging	Het
Ttr	T	C	18: 20,803,059 (GRCm39)	L75P	probably damaging	Het
Ubr1	C	T	2: 120,776,863 (GRCm39)	V293I	probably benign	Het
Vmn1r91	T	A	7: 19,835,990 (GRCm39)	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,315,334 (GRCm39)	I833S	probably damaging	Het
Zfp131	G	T	13: 120,237,982 (GRCm39)	N125K	probably benign	Het
Zfp169	A	T	13: 48,644,516 (GRCm39)		probably benign	Het
Zfp213	C	A	17: 23,776,885 (GRCm39)	E386*	probably null	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
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'- TTGAAGTCCTGGGTGAAGC -3'
(R):5'- GTGGGCTAAACCGGATACAC -3'

Sequencing Primer
(F):5'- GGTGAAGCCCCTGTACTCCTC -3'
(R):5'- CCTCCTTAGGGAAGTGCTGATC -3'

Posted On

2017-06-26