Incidental Mutation 'R5903:Sart3'
ID 456436
Institutional Source Beutler Lab
Gene Symbol Sart3
Ensembl Gene ENSMUSG00000018974
Gene Name squamous cell carcinoma antigen recognized by T cells 3
Synonyms
MMRRC Submission 044101-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5903 (G1)
Quality Score 205
Status Validated
Chromosome 5
Chromosomal Location 113880505-113910461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113889300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 508 (Y508C)
Ref Sequence ENSEMBL: ENSMUSP00000019118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]
AlphaFold Q9JLI8
Predicted Effect probably damaging
Transcript: ENSMUST00000019118
AA Change: Y508C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: Y508C

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 11 33 N/A INTRINSIC
low complexity region 42 50 N/A INTRINSIC
low complexity region 65 93 N/A INTRINSIC
HAT 127 159 1.76e1 SMART
HAT 165 196 4.82e-1 SMART
HAT 202 238 1.53e-3 SMART
low complexity region 269 281 N/A INTRINSIC
HAT 325 357 1.78e-4 SMART
HAT 360 392 7.83e-1 SMART
HAT 395 431 7.56e0 SMART
HAT 488 521 7.31e-1 SMART
coiled coil region 554 619 N/A INTRINSIC
low complexity region 626 640 N/A INTRINSIC
RRM 705 778 1.87e-14 SMART
RRM 802 874 3.2e-22 SMART
Pfam:LSM_int_assoc 877 937 3.1e-28 PFAM
Pfam:Lsm_interact 944 961 2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196778
Predicted Effect probably benign
Transcript: ENSMUST00000197041
SMART Domains Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 11 33 N/A INTRINSIC
low complexity region 42 50 N/A INTRINSIC
low complexity region 65 93 N/A INTRINSIC
HAT 127 159 1.76e1 SMART
HAT 165 196 4.82e-1 SMART
HAT 202 238 1.53e-3 SMART
low complexity region 269 281 N/A INTRINSIC
Blast:HAT 292 323 1e-5 BLAST
HAT 325 357 1.33e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198556
Meta Mutation Damage Score 0.1604 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.8%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,661 (GRCm39) V150A unknown Het
Abraxas1 T C 5: 100,965,824 (GRCm39) probably null Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atg2b T C 12: 105,605,618 (GRCm39) D1449G possibly damaging Het
Atg7 G A 6: 114,683,254 (GRCm39) W439* probably null Het
Atp6v0a2 T A 5: 124,789,343 (GRCm39) I370N probably damaging Het
B4galt1 T C 4: 40,807,760 (GRCm39) D347G probably damaging Het
Baz2b C T 2: 59,790,233 (GRCm39) C660Y probably damaging Het
Ccdc88c T C 12: 100,896,801 (GRCm39) Y1390C probably damaging Het
Cdcp1 G A 9: 123,002,837 (GRCm39) Q745* probably null Het
Cep97 G A 16: 55,739,889 (GRCm39) S185L probably damaging Het
Clec4d A G 6: 123,244,020 (GRCm39) H43R probably damaging Het
Cntn3 T A 6: 102,219,094 (GRCm39) M509L probably benign Het
Cntrob A C 11: 69,200,201 (GRCm39) S564R possibly damaging Het
Cyp2j8 T A 4: 96,395,514 (GRCm39) N37I possibly damaging Het
Edc4 A G 8: 106,617,219 (GRCm39) T1029A probably benign Het
Fhip2b A T 14: 70,829,121 (GRCm39) V64E probably damaging Het
Fmnl1 G T 11: 103,062,270 (GRCm39) probably null Het
Fzd6 T A 15: 38,870,783 (GRCm39) M1K probably null Het
Gle1 C A 2: 29,830,293 (GRCm39) T283N probably benign Het
Hsd17b14 T C 7: 45,215,386 (GRCm39) V161A probably damaging Het
Hsf2 T C 10: 57,380,819 (GRCm39) S218P probably benign Het
Ipo7 T A 7: 109,650,020 (GRCm39) C736S probably damaging Het
Itpkb G T 1: 180,241,540 (GRCm39) V737L probably damaging Het
Itpr1 T C 6: 108,466,758 (GRCm39) probably benign Het
Kcnh8 G T 17: 53,110,364 (GRCm39) V192L possibly damaging Het
Kctd10 G A 5: 114,518,523 (GRCm39) probably benign Het
Kdm3a C A 6: 71,609,234 (GRCm39) probably benign Het
Kif5a T A 10: 127,066,447 (GRCm39) M990L probably benign Het
Klf12 A G 14: 100,260,124 (GRCm39) S202P probably damaging Het
Krt81 T G 15: 101,358,083 (GRCm39) Q390P probably damaging Het
Lrig3 T C 10: 125,844,347 (GRCm39) S604P probably damaging Het
Ms4a1 A T 19: 11,235,612 (GRCm39) V48D probably damaging Het
Mta1 C T 12: 113,100,239 (GRCm39) P688L probably damaging Het
Oas1h T C 5: 121,009,040 (GRCm39) V250A probably damaging Het
Or10c1 A T 17: 37,521,912 (GRCm39) Y277* probably null Het
Or52z13 G T 7: 103,247,128 (GRCm39) G202* probably null Het
P2rx3 T C 2: 84,831,071 (GRCm39) E265G possibly damaging Het
Pdzd8 A G 19: 59,333,718 (GRCm39) I101T possibly damaging Het
Psme4 A T 11: 30,791,589 (GRCm39) N1148I probably benign Het
Rnf213 T C 11: 119,312,195 (GRCm39) L874P probably damaging Het
Sez6l2 T C 7: 126,569,305 (GRCm39) probably benign Het
Slc9b1 C T 3: 135,098,655 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,573 (GRCm39) K78E possibly damaging Het
Thsd4 T A 9: 60,301,389 (GRCm39) N302I possibly damaging Het
Trdv5 A T 14: 54,386,242 (GRCm39) H74Q probably benign Het
Tubb4b C T 2: 25,113,993 (GRCm39) R77H probably benign Het
Ugt1a6a C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Unc5a T A 13: 55,147,503 (GRCm39) C438S possibly damaging Het
Zan C A 5: 137,440,396 (GRCm39) C1946F unknown Het
Other mutations in Sart3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Sart3 APN 5 113,884,730 (GRCm39) missense probably benign
IGL01309:Sart3 APN 5 113,897,311 (GRCm39) missense probably damaging 1.00
IGL01844:Sart3 APN 5 113,883,709 (GRCm39) nonsense probably null
IGL02147:Sart3 APN 5 113,901,004 (GRCm39) splice site probably benign
R0048:Sart3 UTSW 5 113,893,458 (GRCm39) missense possibly damaging 0.92
R0048:Sart3 UTSW 5 113,893,458 (GRCm39) missense possibly damaging 0.92
R0268:Sart3 UTSW 5 113,890,460 (GRCm39) missense probably damaging 0.99
R1703:Sart3 UTSW 5 113,890,280 (GRCm39) missense probably benign 0.22
R1704:Sart3 UTSW 5 113,884,068 (GRCm39) missense probably benign 0.14
R1998:Sart3 UTSW 5 113,885,982 (GRCm39) critical splice donor site probably null
R2142:Sart3 UTSW 5 113,902,154 (GRCm39) missense probably damaging 0.97
R3893:Sart3 UTSW 5 113,884,697 (GRCm39) missense probably benign 0.00
R3895:Sart3 UTSW 5 113,890,488 (GRCm39) nonsense probably null
R4231:Sart3 UTSW 5 113,909,479 (GRCm39) missense probably benign
R5367:Sart3 UTSW 5 113,897,277 (GRCm39) splice site probably null
R5488:Sart3 UTSW 5 113,909,441 (GRCm39) missense probably damaging 1.00
R5489:Sart3 UTSW 5 113,909,441 (GRCm39) missense probably damaging 1.00
R5668:Sart3 UTSW 5 113,883,217 (GRCm39) splice site probably null
R6046:Sart3 UTSW 5 113,893,507 (GRCm39) missense probably damaging 1.00
R6173:Sart3 UTSW 5 113,881,267 (GRCm39) missense probably benign 0.11
R6215:Sart3 UTSW 5 113,881,267 (GRCm39) missense probably benign 0.11
R6216:Sart3 UTSW 5 113,881,267 (GRCm39) missense probably benign 0.11
R6221:Sart3 UTSW 5 113,881,267 (GRCm39) missense probably benign 0.11
R6222:Sart3 UTSW 5 113,881,267 (GRCm39) missense probably benign 0.11
R6320:Sart3 UTSW 5 113,889,301 (GRCm39) missense probably benign 0.34
R6824:Sart3 UTSW 5 113,882,600 (GRCm39) splice site probably null
R6978:Sart3 UTSW 5 113,883,807 (GRCm39) missense probably damaging 0.97
R7062:Sart3 UTSW 5 113,883,663 (GRCm39) missense possibly damaging 0.49
R7162:Sart3 UTSW 5 113,900,896 (GRCm39) missense probably damaging 1.00
R7165:Sart3 UTSW 5 113,884,056 (GRCm39) missense probably benign 0.01
R7222:Sart3 UTSW 5 113,884,717 (GRCm39) missense probably benign 0.01
R7235:Sart3 UTSW 5 113,891,703 (GRCm39) missense probably damaging 1.00
R7237:Sart3 UTSW 5 113,892,307 (GRCm39) missense possibly damaging 0.70
R7340:Sart3 UTSW 5 113,882,728 (GRCm39) missense probably benign 0.02
R7580:Sart3 UTSW 5 113,892,440 (GRCm39) splice site probably null
R7637:Sart3 UTSW 5 113,909,413 (GRCm39) missense probably benign 0.14
R8146:Sart3 UTSW 5 113,886,018 (GRCm39) missense probably damaging 0.98
R8241:Sart3 UTSW 5 113,884,029 (GRCm39) missense probably benign 0.32
R8708:Sart3 UTSW 5 113,882,728 (GRCm39) missense possibly damaging 0.58
R9089:Sart3 UTSW 5 113,891,756 (GRCm39) missense possibly damaging 0.63
R9106:Sart3 UTSW 5 113,892,410 (GRCm39) missense possibly damaging 0.90
R9312:Sart3 UTSW 5 113,900,935 (GRCm39) missense possibly damaging 0.81
X0058:Sart3 UTSW 5 113,883,989 (GRCm39) missense probably benign
Z1176:Sart3 UTSW 5 113,883,885 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGTCAGGCATGTTCAAAAC -3'
(R):5'- ACCTTCATGGCAAGAAGGAG -3'

Sequencing Primer
(F):5'- GTCAGGCATGTTCAAAACTCAAG -3'
(R):5'- AAGGAGTTTGTAGCCATGCC -3'
Posted On 2017-02-15