Incidental Mutation 'R7637:Sart3'
ID 590009
Institutional Source Beutler Lab
Gene Symbol Sart3
Ensembl Gene ENSMUSG00000018974
Gene Name squamous cell carcinoma antigen recognized by T cells 3
Synonyms
MMRRC Submission 045695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7637 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 113880505-113910461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113909413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 95 (N95S)
Ref Sequence ENSEMBL: ENSMUSP00000019118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000026937] [ENSMUST00000112311] [ENSMUST00000112312] [ENSMUST00000123616] [ENSMUST00000145592] [ENSMUST00000145778] [ENSMUST00000197041]
AlphaFold Q9JLI8
Predicted Effect probably benign
Transcript: ENSMUST00000019118
AA Change: N95S

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: N95S

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: ENSMUST00000026937
SMART Domains Protein: ENSMUSP00000026937
Gene: ENSMUSG00000025825

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:NifU_N 35 161 3.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112311
SMART Domains Protein: ENSMUSP00000107930
Gene: ENSMUSG00000025825

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:NifU_N 35 149 1.1e-51 PFAM
low complexity region 170 188 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112312
SMART Domains Protein: ENSMUSP00000107931
Gene: ENSMUSG00000025825

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:NifU_N 35 149 3.4e-49 PFAM
low complexity region 170 188 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123616
SMART Domains Protein: ENSMUSP00000117973
Gene: ENSMUSG00000025825

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134881
Predicted Effect probably benign
Transcript: ENSMUST00000145592
SMART Domains Protein: ENSMUSP00000123237
Gene: ENSMUSG00000025825

DomainStartEndE-ValueType
Pfam:NifU_N 32 136 2.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145778
Predicted Effect possibly damaging
Transcript: ENSMUST00000197041
AA Change: N95S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974
AA Change: N95S

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: 99.1%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,109,778 (GRCm39) Q651L probably benign Het
Adam8 C T 7: 139,565,343 (GRCm39) V624I probably damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Cmya5 T C 13: 93,219,720 (GRCm39) K3243R possibly damaging Het
Dock5 G A 14: 68,023,789 (GRCm39) T1124M possibly damaging Het
Fam8a1 A T 13: 46,824,723 (GRCm39) M237L probably benign Het
Fars2 G T 13: 36,388,758 (GRCm39) K82N probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gm57858 T A 3: 36,101,025 (GRCm39) Q49L probably damaging Het
Gnat3 A G 5: 18,208,770 (GRCm39) D158G Het
Grhl2 A C 15: 37,328,574 (GRCm39) N400T probably damaging Het
Grin2c A T 11: 115,147,085 (GRCm39) probably null Het
Hipk4 A G 7: 27,222,973 (GRCm39) Y11C probably damaging Het
Hspa9 G T 18: 35,071,740 (GRCm39) A620E not run Het
Igkv12-89 A G 6: 68,812,083 (GRCm39) S29P probably benign Het
Itga8 A T 2: 12,113,998 (GRCm39) D1039E probably damaging Het
Itgae A T 11: 73,004,457 (GRCm39) D248V probably damaging Het
Kmt2c T C 5: 25,520,093 (GRCm39) K2006E probably damaging Het
Litafd C T 16: 8,501,510 (GRCm39) P59L unknown Het
Mdga1 C T 17: 30,051,353 (GRCm39) G934R probably benign Het
Mov10 T C 3: 104,703,201 (GRCm39) N896S probably benign Het
Ndufb6 A T 4: 40,273,080 (GRCm39) probably null Het
Nlk T C 11: 78,481,831 (GRCm39) probably null Het
Notch2 T A 3: 98,053,939 (GRCm39) S2201T probably damaging Het
Or5i1 A T 2: 87,613,778 (GRCm39) D298V probably damaging Het
Pank1 A C 19: 34,799,388 (GRCm39) probably null Het
Pdlim3 T C 8: 46,362,102 (GRCm39) F126S probably damaging Het
Pds5a C A 5: 65,795,947 (GRCm39) G648C probably benign Het
Plekhh3 T C 11: 101,055,153 (GRCm39) I567V unknown Het
Ppfia2 T C 10: 106,701,264 (GRCm39) probably null Het
Prl3d1 A G 13: 27,284,052 (GRCm39) D207G probably damaging Het
Prss23 T A 7: 89,159,454 (GRCm39) D205V probably benign Het
Pygl C T 12: 70,244,569 (GRCm39) probably null Het
Qsox2 A G 2: 26,111,032 (GRCm39) F111S probably damaging Het
Scpep1 A G 11: 88,820,046 (GRCm39) F414S probably damaging Het
Selenbp1 C A 3: 94,844,659 (GRCm39) Y105* probably null Het
Sirpa A G 2: 129,458,365 (GRCm39) D327G probably benign Het
Sowahc G A 10: 59,058,005 (GRCm39) R47H probably damaging Het
Szt2 T C 4: 118,251,025 (GRCm39) Y361C probably damaging Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tie1 T C 4: 118,330,175 (GRCm39) I1042M probably damaging Het
Tmem132e T A 11: 82,325,342 (GRCm39) L114Q probably damaging Het
Tmx3 A G 18: 90,555,233 (GRCm39) T317A probably damaging Het
Tppp3 A G 8: 106,194,924 (GRCm39) V69A probably benign Het
Tpr T C 1: 150,299,267 (GRCm39) Y1156H probably damaging Het
Trank1 A C 9: 111,194,364 (GRCm39) D796A possibly damaging Het
Tsc2 G A 17: 24,826,466 (GRCm39) P928S probably benign Het
Unc80 G T 1: 66,711,843 (GRCm39) V2722F possibly damaging Het
Vmn1r199 G T 13: 22,566,845 (GRCm39) L46F probably benign Het
Vps13a A T 19: 16,727,513 (GRCm39) H196Q probably benign Het
Wnt10a T A 1: 74,832,633 (GRCm39) C75* probably null Het
Zfp335 A G 2: 164,734,459 (GRCm39) probably null 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
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
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'- CAATGGAATACTTTAGGGACGCCC -3'
(R):5'- AGTTTTGATCAGGCAGACGC -3'

Sequencing Primer
(F):5'- CGCACTGAGCCGGGGAC -3'
(R):5'- ACGACGGCCGCATCTTC -3'
Posted On 2019-10-24