Incidental Mutation 'IGL00092:Sart3'
ID1636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sart3
Ensembl Gene ENSMUSG00000018974
Gene Namesquamous cell carcinoma antigen recognized by T cells 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL00092
Quality Score
Status
Chromosome5
Chromosomal Location113742446-113772510 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113746669 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 625 (R625G)
Ref Sequence ENSEMBL: ENSMUSP00000019118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]
Predicted Effect probably benign
Transcript: ENSMUST00000019118
AA Change: R625G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: R625G

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 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: ENSMUST00000198246
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,928,695 D443G probably benign Het
Atg16l1 T C 1: 87,765,397 I28T possibly damaging Het
Bpi T A 2: 158,274,796 V371E probably damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Ninj1 A T 13: 49,193,734 probably null Het
Olfr1375 C A 11: 51,048,400 Q98K probably benign Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Trim47 A G 11: 116,106,194 L578P probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Sart3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Sart3 APN 5 113759250 missense probably damaging 1.00
IGL01844:Sart3 APN 5 113745648 nonsense probably null
IGL02147:Sart3 APN 5 113762943 splice site probably benign
R0048:Sart3 UTSW 5 113755397 missense possibly damaging 0.92
R0048:Sart3 UTSW 5 113755397 missense possibly damaging 0.92
R0268:Sart3 UTSW 5 113752399 missense probably damaging 0.99
R1703:Sart3 UTSW 5 113752219 missense probably benign 0.22
R1704:Sart3 UTSW 5 113746007 missense probably benign 0.14
R1998:Sart3 UTSW 5 113747921 critical splice donor site probably null
R2142:Sart3 UTSW 5 113764093 missense probably damaging 0.97
R3893:Sart3 UTSW 5 113746636 missense probably benign 0.00
R3895:Sart3 UTSW 5 113752427 nonsense probably null
R4231:Sart3 UTSW 5 113771418 missense probably benign
R5367:Sart3 UTSW 5 113759216 splice site probably null
R5488:Sart3 UTSW 5 113771380 missense probably damaging 1.00
R5489:Sart3 UTSW 5 113771380 missense probably damaging 1.00
R5668:Sart3 UTSW 5 113745156 splice site probably null
R5903:Sart3 UTSW 5 113751239 missense probably damaging 0.98
R6046:Sart3 UTSW 5 113755446 missense probably damaging 1.00
R6173:Sart3 UTSW 5 113743206 missense probably benign 0.11
R6215:Sart3 UTSW 5 113743206 missense probably benign 0.11
R6216:Sart3 UTSW 5 113743206 missense probably benign 0.11
R6221:Sart3 UTSW 5 113743206 missense probably benign 0.11
R6222:Sart3 UTSW 5 113743206 missense probably benign 0.11
R6320:Sart3 UTSW 5 113751240 missense probably benign 0.34
R6824:Sart3 UTSW 5 113744539 splice site probably null
R6978:Sart3 UTSW 5 113745746 missense probably damaging 0.97
R7062:Sart3 UTSW 5 113745602 missense possibly damaging 0.49
R7162:Sart3 UTSW 5 113762835 missense probably damaging 1.00
R7165:Sart3 UTSW 5 113745995 missense probably benign 0.01
R7222:Sart3 UTSW 5 113746656 missense probably benign 0.01
R7235:Sart3 UTSW 5 113753642 missense probably damaging 1.00
R7237:Sart3 UTSW 5 113754246 missense possibly damaging 0.70
R7340:Sart3 UTSW 5 113744667 missense probably benign 0.02
R7580:Sart3 UTSW 5 113754379 splice site probably null
R7637:Sart3 UTSW 5 113771352 missense probably benign 0.14
R8146:Sart3 UTSW 5 113747957 missense probably damaging 0.98
R8241:Sart3 UTSW 5 113745968 missense probably benign 0.32
X0058:Sart3 UTSW 5 113745928 missense probably benign
Z1176:Sart3 UTSW 5 113745824 missense probably damaging 1.00
Posted On2011-07-12