Incidental Mutation 'R8796:Sart1'
ID 671288
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 068637-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8796 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5427551-5438731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5438376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 94 (K94E)
Ref Sequence ENSEMBL: ENSMUSP00000047397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044207] [ENSMUST00000044527]
AlphaFold Q9Z315
Predicted Effect probably damaging
Transcript: ENSMUST00000044207
AA Change: K94E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: K94E

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 0.2246 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (51/53)
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
4921524L21Rik A T 18: 6,629,482 (GRCm39) T182S possibly damaging Het
Abca12 A C 1: 71,297,248 (GRCm39) probably benign Het
Aco1 T A 4: 40,179,037 (GRCm39) D345E probably benign Het
Acp6 T C 3: 97,066,509 (GRCm39) V9A probably benign Het
Akap1 A C 11: 88,730,498 (GRCm39) I597S probably damaging Het
B4galnt4 C T 7: 140,647,488 (GRCm39) T385I probably damaging Het
Bbof1 A T 12: 84,460,068 (GRCm39) T112S possibly damaging Het
Chd7 C A 4: 8,838,691 (GRCm39) H1297N probably damaging Het
Cldn15 T C 5: 137,003,351 (GRCm39) F147L probably damaging Het
Coq7 C T 7: 118,126,640 (GRCm39) E143K probably damaging Het
Ctnnb1 A G 9: 120,784,498 (GRCm39) N430S probably damaging Het
Cxcl12 G T 6: 117,155,553 (GRCm39) K92N possibly damaging Het
Dscaml1 T C 9: 45,359,026 (GRCm39) F95S probably damaging Het
Epha5 T A 5: 84,255,850 (GRCm39) H480L probably damaging Het
Fbxo30 G A 10: 11,165,320 (GRCm39) C14Y probably damaging Het
Gja5 A G 3: 96,958,419 (GRCm39) I159V possibly damaging Het
Herc2 A T 7: 55,785,123 (GRCm39) Q1487L probably benign Het
Hipk2 T A 6: 38,675,158 (GRCm39) Q1168L probably damaging Het
Kcnk12 T A 17: 88,054,020 (GRCm39) Y214F probably damaging Het
Kif5b T C 18: 6,226,965 (GRCm39) K98E probably benign Het
Lama1 T A 17: 68,117,146 (GRCm39) N2480K Het
Lrp1b A G 2: 40,793,426 (GRCm39) C2610R Het
Mast4 T C 13: 102,919,899 (GRCm39) Y536C probably benign Het
Ntrk1 A G 3: 87,690,422 (GRCm39) S407P probably benign Het
Ogdh T A 11: 6,297,129 (GRCm39) M527K possibly damaging Het
Or51b6 T C 7: 103,556,201 (GRCm39) V182A Het
Or5m9b G A 2: 85,905,518 (GRCm39) V145M possibly damaging Het
Plxdc1 A G 11: 97,847,407 (GRCm39) S89P probably benign Het
Prdm2 A G 4: 142,860,017 (GRCm39) I1091T probably benign Het
Psg16 C A 7: 16,827,814 (GRCm39) H166N possibly damaging Het
Qrfpr T A 3: 36,234,345 (GRCm39) Y332F probably damaging Het
Rab31 A T 17: 66,079,529 (GRCm39) I4K possibly damaging Het
Ranbp10 C A 8: 106,499,665 (GRCm39) probably benign Het
Rasgrf2 T C 13: 92,038,685 (GRCm39) S453G Het
Rxfp2 C T 5: 149,942,262 (GRCm39) probably benign Het
S100a8 A G 3: 90,576,865 (GRCm39) E6G probably damaging Het
Sema4d A T 13: 51,865,546 (GRCm39) F297I probably damaging Het
Sgk2 A G 2: 162,848,723 (GRCm39) K287E probably damaging Het
Sgsm1 T A 5: 113,411,123 (GRCm39) T868S probably benign Het
Skint6 G T 4: 112,661,891 (GRCm39) T1231K possibly damaging Het
Slc35b3 C T 13: 39,121,722 (GRCm39) probably benign Het
Slf1 A T 13: 77,214,784 (GRCm39) M634K probably benign Het
Slit2 A G 5: 48,460,190 (GRCm39) D1424G probably benign Het
Snx21 G A 2: 164,628,749 (GRCm39) V131I possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tas1r3 A G 4: 155,945,848 (GRCm39) V516A probably benign Het
Tas2r120 A T 6: 132,634,081 (GRCm39) R54S probably damaging Het
Tmem109 A T 19: 10,849,995 (GRCm39) L99Q probably damaging Het
Tnfrsf1b A G 4: 144,946,485 (GRCm39) S309P possibly damaging Het
Trav11 C T 14: 53,757,227 (GRCm39) A85V probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttn G A 2: 76,653,314 (GRCm39) R12631C possibly damaging Het
Vmn2r10 T A 5: 109,143,917 (GRCm39) T678S possibly damaging Het
Vmn2r124 T C 17: 18,282,933 (GRCm39) M209T possibly damaging Het
Vmn2r24 A T 6: 123,757,500 (GRCm39) M123L probably benign Het
Wdr41 T G 13: 95,151,575 (GRCm39) L245R possibly damaging Het
Wwp2 G T 8: 108,283,189 (GRCm39) G814W 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
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
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'- CCTGTCTTCTTAAAGCTTAACGTGG -3'
(R):5'- CATGGGGTCGTCAAAGAAGC -3'

Sequencing Primer
(F):5'- TCTTTAACCCGAGAGGCA -3'
(R):5'- TCGTCAAAGAAGCACCGTG -3'
Posted On 2021-04-30