Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Sart1'

37808

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

038515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

5427551-5438731 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 5430559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047397 (fasta)

Gene Model

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

AlphaFold

Q9Z315

Predicted Effect

probably benign
Transcript: ENSMUST00000044207

SMART Domains

Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CACTGCCACTGAGCACGATATACG -3'
(R):5'- TGGCATTAACTCCAGCTCCCAGAG -3'

Sequencing Primer
(F):5'- AGCACGATATACGGTGTCTTC -3'
(R):5'- CCTGGATTCTTttttggtttttcg -3'

Posted On

2013-05-23