Incidental Mutation 'IGL02533:Sart1'
ID297390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sart1
Ensembl Gene ENSMUSG00000039148
Gene Namesquamous cell carcinoma antigen recognized by T cells 1
SynonymsU5-110K
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02533
Quality Score
Status
Chromosome19
Chromosomal Location5377523-5388703 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 5383721 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 363 (R363*)
Ref Sequence ENSEMBL: ENSMUSP00000047397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044207]
Predicted Effect probably null
Transcript: ENSMUST00000044207
AA Change: R363*
SMART Domains Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: R363*

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Cops9 T C 1: 92,639,716 E79G possibly damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mgat4b T A 11: 50,233,552 F413Y probably damaging Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1104 T A 2: 87,022,353 S64C probably damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Prkacb T C 3: 146,732,696 I304M possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Serpinb3a T G 1: 107,047,162 I214L probably benign Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably damaging Het
Other mutations in Sart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Sart1 APN 19 5383951 missense probably benign 0.00
IGL02390:Sart1 APN 19 5380461 missense possibly damaging 0.85
IGL03094:Sart1 APN 19 5384081 splice site probably benign
R0219:Sart1 UTSW 19 5388396 missense probably benign
R0226:Sart1 UTSW 19 5381122 splice site probably benign
R0304:Sart1 UTSW 19 5380531 splice site probably benign
R0537:Sart1 UTSW 19 5381724 missense probably damaging 0.99
R0668:Sart1 UTSW 19 5384256 missense probably damaging 1.00
R1574:Sart1 UTSW 19 5380259 missense probably damaging 1.00
R1574:Sart1 UTSW 19 5380259 missense probably damaging 1.00
R1674:Sart1 UTSW 19 5385825 missense probably damaging 0.99
R4077:Sart1 UTSW 19 5382743 missense possibly damaging 0.48
R4866:Sart1 UTSW 19 5382220 missense probably damaging 1.00
R5081:Sart1 UTSW 19 5388548 missense possibly damaging 0.72
R5523:Sart1 UTSW 19 5383676 missense probably damaging 0.99
R5756:Sart1 UTSW 19 5380469 missense probably damaging 1.00
R5875:Sart1 UTSW 19 5383795 missense probably damaging 1.00
R5979:Sart1 UTSW 19 5381223 missense probably damaging 1.00
R7360:Sart1 UTSW 19 5383203 missense probably damaging 0.96
R7560:Sart1 UTSW 19 5384877 missense probably damaging 0.97
R7764:Sart1 UTSW 19 5388585 missense probably damaging 1.00
R8426:Sart1 UTSW 19 5383741 missense probably benign
R8517:Sart1 UTSW 19 5383197 missense probably damaging 0.98
R8796:Sart1 UTSW 19 5388348 missense probably damaging 1.00
Posted On2015-04-16