Incidental Mutation 'R1574:Sart1'
ID 202772
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 045014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1574 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5427551-5438731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5430287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 788 (P788L)
Ref Sequence ENSEMBL: ENSMUSP00000047397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044207]
AlphaFold Q9Z315
Predicted Effect probably damaging
Transcript: ENSMUST00000044207
AA Change: P788L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: P788L

DomainStartEndE-ValueType
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: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,935,296 (GRCm39) N1276K probably damaging Het
Als2cl A G 9: 110,713,128 (GRCm39) E6G probably damaging Het
Ankrd12 A T 17: 66,293,269 (GRCm39) D721E probably benign Het
Anpep A G 7: 79,488,155 (GRCm39) probably null Het
Apeh A T 9: 107,969,925 (GRCm39) probably null Het
Apob A T 12: 8,040,839 (GRCm39) I655L possibly damaging Het
Atp2b1 T A 10: 98,832,810 (GRCm39) L437Q probably damaging Het
Cacna2d3 T A 14: 29,073,779 (GRCm39) R222S probably damaging Het
Cdc25b T A 2: 131,033,057 (GRCm39) probably benign Het
Cdon A G 9: 35,364,233 (GRCm39) probably benign Het
Cenpf C T 1: 189,384,910 (GRCm39) D2457N probably damaging Het
Cenpo A T 12: 4,265,433 (GRCm39) probably null Het
Ces2b G T 8: 105,562,521 (GRCm39) A284S probably benign Het
Clock T C 5: 76,390,679 (GRCm39) D311G probably damaging Het
Csmd3 T C 15: 47,559,257 (GRCm39) probably null Het
Dbil5 A G 11: 76,109,308 (GRCm39) M71V probably benign Het
Ddhd1 A C 14: 45,833,004 (GRCm39) L864R probably damaging Het
Ddx19a T C 8: 111,719,743 (GRCm39) probably benign Het
Dnah11 A G 12: 118,024,052 (GRCm39) C1900R probably damaging Het
Dnah2 A G 11: 69,405,514 (GRCm39) V666A probably benign Het
Dnah5 T A 15: 28,252,569 (GRCm39) M754K probably benign Het
Dnajc15 A T 14: 78,063,854 (GRCm39) S145T probably benign Het
Drap1 A G 19: 5,474,285 (GRCm39) F25S probably damaging Het
Drgx A G 14: 32,327,281 (GRCm39) probably benign Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Fbxo48 G T 11: 16,903,368 (GRCm39) probably benign Het
Fndc3a A T 14: 72,793,997 (GRCm39) I892N probably damaging Het
Gcn1 A G 5: 115,753,611 (GRCm39) T2321A probably benign Het
Gm1110 G T 9: 26,792,422 (GRCm39) probably benign Het
Gm5499 T C 17: 87,386,423 (GRCm39) noncoding transcript Het
Gmnc G T 16: 26,782,729 (GRCm39) probably benign Het
Greb1l A G 18: 10,554,997 (GRCm39) D1681G possibly damaging Het
Hc G A 2: 34,890,777 (GRCm39) probably benign Het
Hmcn2 A C 2: 31,294,899 (GRCm39) T2563P probably damaging Het
Iqcd A T 5: 120,738,300 (GRCm39) K39N probably damaging Het
Irag2 T G 6: 145,104,356 (GRCm39) probably benign Het
Kank2 A G 9: 21,685,871 (GRCm39) S668P probably damaging Het
Kcng1 T A 2: 168,110,961 (GRCm39) N68Y probably damaging Het
Kmt5b T A 19: 3,836,633 (GRCm39) probably null Het
Lama2 T A 10: 27,200,750 (GRCm39) I533F possibly damaging Het
Lcmt1 T A 7: 123,002,131 (GRCm39) I132N probably damaging Het
Mad2l2 G T 4: 148,227,429 (GRCm39) probably benign Het
Mcph1 T C 8: 18,851,428 (GRCm39) I807T probably damaging Het
Mdn1 A G 4: 32,722,315 (GRCm39) I2366V probably benign Het
Moxd1 T C 10: 24,176,217 (GRCm39) W558R probably damaging Het
Myh13 T C 11: 67,253,407 (GRCm39) probably benign Het
Myrf T C 19: 10,202,851 (GRCm39) D141G probably damaging Het
Ncoa7 T C 10: 30,570,097 (GRCm39) I249M probably damaging Het
Obox5 T C 7: 15,492,558 (GRCm39) V171A probably damaging Het
Or13e8 A T 4: 43,697,134 (GRCm39) V13D possibly damaging Het
Or2c1 T C 16: 3,657,521 (GRCm39) I228T probably damaging Het
Or5ak20 A T 2: 85,184,243 (GRCm39) V9E probably damaging Het
Or6c219 A G 10: 129,781,379 (GRCm39) L69P probably damaging Het
Or7a36 C A 10: 78,819,820 (GRCm39) N32K probably damaging Het
Parp4 A G 14: 56,839,752 (GRCm39) T487A probably damaging Het
Pclo A G 5: 14,729,845 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,500,669 (GRCm39) R1474C probably damaging Het
Qtrt2 A G 16: 43,692,195 (GRCm39) probably benign Het
Sdk1 A G 5: 141,984,634 (GRCm39) T740A probably benign Het
Serpinb1c T C 13: 33,072,979 (GRCm39) D61G possibly damaging Het
Slc24a5 G A 2: 124,922,782 (GRCm39) G152S probably damaging Het
Slc6a4 A T 11: 76,910,022 (GRCm39) I426F possibly damaging Het
Stk33 C T 7: 108,879,027 (GRCm39) V441I probably benign Het
Sult1c2 A G 17: 54,143,927 (GRCm39) probably null Het
Tdpoz4 T A 3: 93,703,835 (GRCm39) V44E probably benign Het
Tmprss13 C A 9: 45,254,529 (GRCm39) T432K probably damaging Het
Traf7 A G 17: 24,729,527 (GRCm39) L428P probably damaging Het
Tubb1 T C 2: 174,299,215 (GRCm39) I299T probably benign Het
Vmn1r158 A T 7: 22,489,772 (GRCm39) W146R probably damaging Het
Vmn1r42 A G 6: 89,822,059 (GRCm39) I170T possibly damaging Het
Vmn2r116 A T 17: 23,606,063 (GRCm39) H325L probably damaging Het
Zfp516 T A 18: 83,011,300 (GRCm39) L1111H possibly damaging Het
Zfp61 C G 7: 23,990,635 (GRCm39) K505N probably damaging Het
Zfp653 C A 9: 21,969,274 (GRCm39) E331* probably null Het
Zfp949 A T 9: 88,451,830 (GRCm39) K467* probably null Het
Other mutations in Sart1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AACACTACATCTGGGCCAGG -3'
(R):5'- GCTCTGTATCCCAGGCATTC -3'

Sequencing Primer
(F):5'- TACATCTGGGCCAGGGAGGAG -3'
(R):5'- TTCCACGGAAAGGGCTCAG -3'
Posted On 2014-06-23