Incidental Mutation 'IGL01070:Sart1'
ID 53226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sart1
Ensembl Gene ENSMUSG00000039148
Gene Name squamous cell carcinoma antigen recognized by T cells 1
Synonyms U5-110K
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01070
Quality Score
Chromosome 19
Chromosomal Location 5427551-5438731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5433979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 322 (V322A)
Ref Sequence ENSEMBL: ENSMUSP00000047397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044207]
AlphaFold Q9Z315
Predicted Effect probably benign
Transcript: ENSMUST00000044207
AA Change: V322A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: V322A

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Sart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21