Incidental Mutation 'R5081:Sart1'
ID 387160
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 042670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5081 (G1)
Quality Score 90
Status Validated
Chromosome 19
Chromosomal Location 5427551-5438731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5438576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000047397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044207] [ENSMUST00000044527]
AlphaFold Q9Z315
Predicted Effect possibly damaging
Transcript: ENSMUST00000044207
AA Change: E27G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: E27G

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
Predicted Effect probably benign
Transcript: ENSMUST00000044527
SMART Domains Protein: ENSMUSP00000047408
Gene: ENSMUSG00000039330

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
coiled coil region 33 63 N/A INTRINSIC
Meta Mutation Damage Score 0.0827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging 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
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
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'- GGACGTCTTTAACCCGAGAG -3'
(R):5'- TTAGTTTCCGGCAACAGGAAC -3'

Sequencing Primer
(F):5'- GTAGCCGTCATCGCGTTTC -3'
(R):5'- ACAGGAACGGGGCGGTC -3'
Posted On 2016-06-06