Incidental Mutation 'R0226:Sart1'
ID 33974
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 038471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0226 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5377523-5388703 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 5381122 bp (GRCm38)
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

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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,142,120 (GRCm38) T54K possibly damaging Het
2210408I21Rik A T 13: 77,303,425 (GRCm38) E876V possibly damaging Het
Aasdh A T 5: 76,902,002 (GRCm38) L49Q probably damaging Het
Abca8b T C 11: 109,957,018 (GRCm38) probably null Het
Ablim1 A T 19: 57,043,870 (GRCm38) L556Q probably damaging Het
Afdn A G 17: 13,899,146 (GRCm38) T1700A probably benign Het
Agl G A 3: 116,752,071 (GRCm38) R1359C probably damaging Het
Agpat3 T A 10: 78,278,029 (GRCm38) H275L possibly damaging Het
Ahcyl1 A T 3: 107,670,270 (GRCm38) C180* probably null Het
Aim2 A G 1: 173,462,333 (GRCm38) probably benign Het
Angpt1 T C 15: 42,468,235 (GRCm38) N320S probably benign Het
Ankrd52 T A 10: 128,389,858 (GRCm38) probably null Het
Ap1g1 C T 8: 109,855,062 (GRCm38) S654L probably benign Het
Bpifa1 T A 2: 154,146,057 (GRCm38) S173R probably benign Het
Brd8 T C 18: 34,603,894 (GRCm38) probably benign Het
Btbd9 C T 17: 30,274,942 (GRCm38) D492N possibly damaging Het
C1qtnf2 A G 11: 43,490,843 (GRCm38) T161A probably benign Het
Car6 T C 4: 150,187,508 (GRCm38) Y228C probably damaging Het
Ccdc149 A G 5: 52,400,217 (GRCm38) L273P probably damaging Het
Cit G A 5: 115,984,840 (GRCm38) R1405Q probably damaging Het
Cox17 T C 16: 38,349,276 (GRCm38) L48P probably damaging Het
Cttn A G 7: 144,441,852 (GRCm38) probably benign Het
Cyp4f18 T C 8: 71,989,775 (GRCm38) probably benign Het
Dtnbp1 A G 13: 44,923,193 (GRCm38) L175P probably damaging Het
Efl1 T C 7: 82,693,011 (GRCm38) probably benign Het
Fbn1 C T 2: 125,320,910 (GRCm38) R2152Q possibly damaging Het
Fignl1 A T 11: 11,801,061 (GRCm38) S665T probably benign Het
Gm884 A T 11: 103,603,241 (GRCm38) F663L probably benign Het
Gm9843 A T 16: 76,403,561 (GRCm38) noncoding transcript Het
Gpr155 C T 2: 73,367,592 (GRCm38) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm38) probably benign Het
Hdgfl1 A T 13: 26,769,996 (GRCm38) H31Q probably benign Het
Heatr1 T C 13: 12,410,562 (GRCm38) S628P probably damaging Het
Hivep2 A G 10: 14,129,712 (GRCm38) T685A probably benign Het
Hmgcl T G 4: 135,958,728 (GRCm38) V168G probably damaging Het
Itch T C 2: 155,199,394 (GRCm38) I454T probably benign Het
Itih2 T C 2: 10,115,299 (GRCm38) D309G possibly damaging Het
Kcmf1 T C 6: 72,842,952 (GRCm38) I304V probably benign Het
Kcnh1 G T 1: 192,276,805 (GRCm38) W222C probably damaging Het
Kcnh1 G A 1: 192,276,804 (GRCm38) W222* probably null Het
Kif24 T A 4: 41,414,939 (GRCm38) K287* probably null Het
Lrig3 A G 10: 125,972,117 (GRCm38) probably benign Het
Lrp2 A T 2: 69,537,563 (GRCm38) C202S probably null Het
Lrrn2 A G 1: 132,937,820 (GRCm38) N208D probably damaging Het
Mcm5 C T 8: 75,126,252 (GRCm38) T664I possibly damaging Het
Mfsd10 A G 5: 34,634,446 (GRCm38) L365S probably benign Het
Mfsd6 A G 1: 52,658,690 (GRCm38) probably benign Het
Mgat4e A G 1: 134,541,103 (GRCm38) V401A probably benign Het
Mllt3 C A 4: 87,840,732 (GRCm38) V360L probably benign Het
Mrm1 G A 11: 84,819,170 (GRCm38) A68V possibly damaging Het
Myo19 A G 11: 84,897,732 (GRCm38) probably benign Het
Myo3b A G 2: 70,217,166 (GRCm38) T311A probably benign Het
Myo5b T C 18: 74,742,180 (GRCm38) F1552L probably benign Het
Myo7b C T 18: 31,972,896 (GRCm38) V1353I probably benign Het
Myo9b T C 8: 71,353,832 (GRCm38) S1512P probably damaging Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Osbpl3 A G 6: 50,353,008 (GRCm38) W63R probably damaging Het
Pcdh17 T C 14: 84,448,201 (GRCm38) S703P probably damaging Het
Pclo T C 5: 14,765,223 (GRCm38) I1231T probably damaging Het
Pex16 A C 2: 92,375,687 (GRCm38) probably benign Het
Pfkl T C 10: 77,992,534 (GRCm38) N399S probably benign Het
Pkhd1l1 G A 15: 44,526,784 (GRCm38) R1432K possibly damaging Het
Prdm1 T A 10: 44,456,696 (GRCm38) T106S probably benign Het
Prrc1 A G 18: 57,363,291 (GRCm38) M105V probably benign Het
Psg26 A G 7: 18,483,958 (GRCm38) C12R possibly damaging Het
Rnf43 A T 11: 87,731,437 (GRCm38) S455C probably damaging Het
Ryr2 T C 13: 11,772,556 (GRCm38) K977R probably damaging Het
Sec14l5 A G 16: 5,180,303 (GRCm38) S509G probably benign Het
Sin3b A T 8: 72,744,508 (GRCm38) E361V probably benign Het
Slc35e3 C T 10: 117,740,890 (GRCm38) E179K possibly damaging Het
Sntb2 T C 8: 107,001,583 (GRCm38) S388P probably damaging Het
Srms A G 2: 181,212,382 (GRCm38) S131P probably benign Het
Stxbp5 T C 10: 9,866,698 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Taar2 T C 10: 23,941,063 (GRCm38) V167A probably damaging Het
Thsd7a A G 6: 12,321,900 (GRCm38) Y1516H possibly damaging Het
Tlk1 T A 2: 70,714,169 (GRCm38) probably benign Het
Tmem173 A T 18: 35,739,088 (GRCm38) F120L probably benign Het
Tnfaip3 T C 10: 19,002,747 (GRCm38) K771R probably damaging Het
Treml1 C T 17: 48,360,458 (GRCm38) L124F probably damaging Het
Ttn G T 2: 76,780,797 (GRCm38) Q9137K possibly damaging Het
Unkl T A 17: 25,230,711 (GRCm38) I469N probably damaging Het
Vmn1r173 G T 7: 23,703,083 (GRCm38) V248L possibly damaging Het
Vps35 T C 8: 85,273,575 (GRCm38) Q474R probably damaging Het
Wdr17 T A 8: 54,663,008 (GRCm38) T580S probably benign Het
Xpnpep1 T C 19: 53,010,152 (GRCm38) K222E probably benign Het
Ylpm1 A G 12: 85,049,737 (GRCm38) T1446A probably benign Het
Zfp277 A G 12: 40,364,162 (GRCm38) L228S possibly damaging Het
Zfp941 T A 7: 140,813,275 (GRCm38) K57M probably damaging Het
Zmpste24 A T 4: 121,081,209 (GRCm38) S244R probably benign Het
Other mutations in Sart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Sart1 APN 19 5,383,951 (GRCm38) missense probably benign 0.00
IGL02390:Sart1 APN 19 5,380,461 (GRCm38) missense possibly damaging 0.85
IGL02533:Sart1 APN 19 5,383,721 (GRCm38) nonsense probably null
IGL03094:Sart1 APN 19 5,384,081 (GRCm38) splice site probably benign
R0219:Sart1 UTSW 19 5,388,396 (GRCm38) missense probably benign
R0304:Sart1 UTSW 19 5,380,531 (GRCm38) splice site probably benign
R0537:Sart1 UTSW 19 5,381,724 (GRCm38) missense probably damaging 0.99
R0668:Sart1 UTSW 19 5,384,256 (GRCm38) missense probably damaging 1.00
R1574:Sart1 UTSW 19 5,380,259 (GRCm38) missense probably damaging 1.00
R1574:Sart1 UTSW 19 5,380,259 (GRCm38) missense probably damaging 1.00
R1674:Sart1 UTSW 19 5,385,825 (GRCm38) missense probably damaging 0.99
R4077:Sart1 UTSW 19 5,382,743 (GRCm38) missense possibly damaging 0.48
R4866:Sart1 UTSW 19 5,382,220 (GRCm38) missense probably damaging 1.00
R5081:Sart1 UTSW 19 5,388,548 (GRCm38) missense possibly damaging 0.72
R5523:Sart1 UTSW 19 5,383,676 (GRCm38) missense probably damaging 0.99
R5756:Sart1 UTSW 19 5,380,469 (GRCm38) missense probably damaging 1.00
R5875:Sart1 UTSW 19 5,383,795 (GRCm38) missense probably damaging 1.00
R5979:Sart1 UTSW 19 5,381,223 (GRCm38) missense probably damaging 1.00
R7360:Sart1 UTSW 19 5,383,203 (GRCm38) missense probably damaging 0.96
R7560:Sart1 UTSW 19 5,384,877 (GRCm38) missense probably damaging 0.97
R7764:Sart1 UTSW 19 5,388,585 (GRCm38) missense probably damaging 1.00
R8426:Sart1 UTSW 19 5,383,741 (GRCm38) missense probably benign
R8517:Sart1 UTSW 19 5,383,197 (GRCm38) missense probably damaging 0.98
R8796:Sart1 UTSW 19 5,388,348 (GRCm38) missense probably damaging 1.00
R8927:Sart1 UTSW 19 5,388,501 (GRCm38) missense probably benign
R8928:Sart1 UTSW 19 5,388,501 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09