Incidental Mutation 'R7165:Sart3'
ID 557865
Institutional Source Beutler Lab
Gene Symbol Sart3
Ensembl Gene ENSMUSG00000018974
Gene Name squamous cell carcinoma antigen recognized by T cells 3
Synonyms
MMRRC Submission 045262-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7165 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 113880505-113910461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113884056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 652 (L652Q)
Ref Sequence ENSEMBL: ENSMUSP00000019118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]
AlphaFold Q9JLI8
Predicted Effect probably benign
Transcript: ENSMUST00000019118
AA Change: L652Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: L652Q

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 127,965,028 (GRCm39) A624E probably benign Het
Adnp A G 2: 168,024,287 (GRCm39) S1003P probably benign Het
Akap8l T C 17: 32,557,386 (GRCm39) D75G probably damaging Het
Ap4e1 A T 2: 126,905,238 (GRCm39) T970S possibly damaging Het
Asb3 T A 11: 30,979,029 (GRCm39) N106K probably damaging Het
Atp1a3 T C 7: 24,678,390 (GRCm39) I988V probably benign Het
Camta1 A G 4: 151,169,157 (GRCm39) L198S possibly damaging Het
Ccdc77 A G 6: 120,327,193 (GRCm39) L84P probably damaging Het
Ccne1 C T 7: 37,798,726 (GRCm39) A298T probably damaging Het
Cdc42bpb T A 12: 111,287,951 (GRCm39) E532V probably damaging Het
Clasp2 G A 9: 113,615,467 (GRCm39) probably null Het
Cntnap5b C A 1: 100,003,887 (GRCm39) T289N possibly damaging Het
Dcun1d4 A G 5: 73,648,538 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,100 (GRCm39) T2296A probably benign Het
Dnaja4 A T 9: 54,616,516 (GRCm39) Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 (GRCm39) A3190V probably benign Het
Frrs1 T A 3: 116,671,920 (GRCm39) I6N probably benign Het
Fscn1 T C 5: 142,957,801 (GRCm39) V477A probably benign Het
Fsip2 G A 2: 82,811,541 (GRCm39) G2620E possibly damaging Het
Glp1r C T 17: 31,128,297 (GRCm39) A92V probably benign Het
Gpr137b A T 13: 13,542,205 (GRCm39) M204K probably damaging Het
Gstm1 A G 3: 107,923,693 (GRCm39) V104A probably benign Het
Gtf2e1 A T 16: 37,356,228 (GRCm39) N101K probably damaging Het
Igsf9b T C 9: 27,245,536 (GRCm39) F1168L probably benign Het
Itpr2 A T 6: 146,195,589 (GRCm39) V1629E probably damaging Het
Kat14 A G 2: 144,235,918 (GRCm39) T428A probably benign Het
Kif21b T C 1: 136,077,186 (GRCm39) Y403H probably damaging Het
Lpcat1 G C 13: 73,662,649 (GRCm39) A533P probably benign Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Mboat1 A T 13: 30,408,398 (GRCm39) Y187F probably damaging Het
Mkx T C 18: 7,002,525 (GRCm39) N7S probably damaging Het
Mrps27 A T 13: 99,551,307 (GRCm39) T357S possibly damaging Het
Muc21 A G 17: 35,932,870 (GRCm39) S439P unknown Het
Naa35 A G 13: 59,733,997 (GRCm39) D9G probably benign Het
Ncoa4 T A 14: 31,897,940 (GRCm39) N253K probably damaging Het
Neb A G 2: 52,160,318 (GRCm39) Y2232H probably damaging Het
Nlk G A 11: 78,481,793 (GRCm39) Q223* probably null Het
Npas2 T A 1: 39,331,798 (GRCm39) I71N possibly damaging Het
Nup107 T A 10: 117,609,267 (GRCm39) Q364L probably damaging Het
Or8g17 T A 9: 38,934,566 (GRCm39) probably benign Het
Otof C T 5: 30,532,964 (GRCm39) G1593S probably damaging Het
Panx3 G T 9: 37,575,381 (GRCm39) H160Q probably damaging Het
Pappa T A 4: 65,180,110 (GRCm39) H990Q probably damaging Het
Pax4 G A 6: 28,446,136 (GRCm39) P119L probably damaging Het
Pcdhb20 T A 18: 37,638,123 (GRCm39) D216E probably damaging Het
Pcdhgb8 T A 18: 37,896,231 (GRCm39) S434T possibly damaging Het
Pf4 T C 5: 90,920,448 (GRCm39) V3A probably benign Het
Phf24 T C 4: 42,938,325 (GRCm39) S229P probably benign Het
Plcd3 A G 11: 102,970,439 (GRCm39) F200S probably damaging Het
Ppp1r16a A G 15: 76,575,104 (GRCm39) H4R probably damaging Het
Pramel15 A G 4: 144,099,389 (GRCm39) C459R probably damaging Het
Prdm10 A G 9: 31,227,738 (GRCm39) probably null Het
Prim2 A G 1: 33,667,474 (GRCm39) probably null Het
Prkg1 T A 19: 30,562,599 (GRCm39) H550L probably damaging Het
Prrc2c G T 1: 162,501,086 (GRCm39) T2809N possibly damaging Het
Ptx3 A G 3: 66,132,391 (GRCm39) E304G probably benign Het
Ralgps2 A G 1: 156,655,818 (GRCm39) F369L probably benign Het
Rasgrp1 G A 2: 117,168,885 (GRCm39) T31I probably benign Het
Rbsn A T 6: 92,168,315 (GRCm39) M373K probably benign Het
Rnf168 C G 16: 32,101,179 (GRCm39) R120G probably benign Het
Rp1 A G 1: 4,420,140 (GRCm39) I324T probably damaging Het
Samd11 T C 4: 156,336,747 (GRCm39) S31G probably benign Het
Scrn2 A G 11: 96,924,634 (GRCm39) E421G probably benign Het
Sik2 A T 9: 50,828,397 (GRCm39) L215Q probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stard9 A T 2: 120,534,639 (GRCm39) K3632M probably damaging Het
Swt1 A T 1: 151,264,428 (GRCm39) D695E probably damaging Het
Tead3 T A 17: 28,552,228 (GRCm39) M357L probably benign Het
Tgfbi A T 13: 56,775,829 (GRCm39) T292S probably damaging Het
Tmc7 T C 7: 118,155,157 (GRCm39) H247R probably benign Het
Trmt10b T A 4: 45,308,549 (GRCm39) D236E probably damaging Het
Tshz1 C A 18: 84,034,052 (GRCm39) V119L probably damaging Het
Ttn A C 2: 76,658,258 (GRCm39) V12374G unknown Het
Tubgcp2 A G 7: 139,585,274 (GRCm39) Y484H probably damaging Het
Ubr4 G C 4: 139,177,824 (GRCm39) A1947P Het
Uggt1 A C 1: 36,194,188 (GRCm39) V1350G probably benign Het
Vmn1r173 A T 7: 23,402,076 (GRCm39) M104L probably benign Het
Xirp1 A T 9: 119,848,113 (GRCm39) C257S probably damaging Het
Zfyve26 A G 12: 79,327,179 (GRCm39) S724P probably damaging Het
Zmpste24 A T 4: 120,940,091 (GRCm39) L185Q probably null Het
Zpld1 G A 16: 55,052,594 (GRCm39) A340V probably benign 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
R5903:Sart3 UTSW 5 113,889,300 (GRCm39) missense probably damaging 0.98
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
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'- TAGGGCAGGTTGCTGACAAAC -3'
(R):5'- GATGACCGACAGTGGATGTTTATG -3'

Sequencing Primer
(F):5'- AACACGGTGACACTGTCCTTACTG -3'
(R):5'- GGTTTCATTGACGCAGCAC -3'
Posted On 2019-06-26