Incidental Mutation 'R0378:Srsf10'
ID 36459
Institutional Source Beutler Lab
Gene Symbol Srsf10
Ensembl Gene ENSMUSG00000028676
Gene Name serine and arginine-rich splicing factor 10
Synonyms SRrp40, NSSR2, Srsf13a, Nssr, FUSIP2, TASR1, Fusip1, Sfrs13a, NSSR1, TASR2
MMRRC Submission 038584-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0378 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 135583058-135597219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135590501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 142 (Y142C)
Ref Sequence ENSEMBL: ENSMUSP00000114564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097844] [ENSMUST00000102544] [ENSMUST00000105853] [ENSMUST00000126641]
AlphaFold Q9R0U0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030438
Predicted Effect possibly damaging
Transcript: ENSMUST00000097844
AA Change: Y142C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095455
Gene: ENSMUSG00000028676
AA Change: Y142C

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 157 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
low complexity region 217 259 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000102544
AA Change: Y142C
SMART Domains Protein: ENSMUSP00000099603
Gene: ENSMUSG00000028676
AA Change: Y142C

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 157 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105853
AA Change: Y142C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101479
Gene: ENSMUSG00000028676
AA Change: Y142C

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 160 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
low complexity region 218 260 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000126641
AA Change: Y142C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114564
Gene: ENSMUSG00000028676
AA Change: Y142C

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142002
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit fetal and neonatal lethality associated with edema and cardiac defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,469,749 (GRCm39) R651L probably damaging Het
Amd1 T C 10: 40,165,380 (GRCm39) D317G possibly damaging Het
Artn A G 4: 117,784,815 (GRCm39) probably benign Het
Bub1b T A 2: 118,471,604 (GRCm39) V988E probably benign Het
Cyp2c65 G T 19: 39,061,662 (GRCm39) C216F probably benign Het
Cyp3a11 T C 5: 145,805,417 (GRCm39) E200G probably benign Het
Cyp3a25 T A 5: 145,923,652 (GRCm39) K330N probably damaging Het
Duox2 C A 2: 122,115,064 (GRCm39) V1138L probably benign Het
Erc2 A G 14: 27,733,651 (GRCm39) D567G probably damaging Het
Eri2 A G 7: 119,393,139 (GRCm39) probably null Het
Foxa3 A G 7: 18,757,294 (GRCm39) Y17H probably damaging Het
Fto T C 8: 92,200,940 (GRCm39) S324P probably damaging Het
Get3 A T 8: 85,751,893 (GRCm39) M1K probably null Het
Gls2 T G 10: 128,043,180 (GRCm39) L457R probably benign Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Gtf3c1 G A 7: 125,246,786 (GRCm39) R1508* probably null Het
Kif21a T C 15: 90,853,977 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lgr5 T C 10: 115,290,404 (GRCm39) D456G probably damaging Het
Mau2 A G 8: 70,483,305 (GRCm39) S186P probably damaging Het
Msr1 T C 8: 40,042,423 (GRCm39) D384G possibly damaging Het
Ncf4 T C 15: 78,137,503 (GRCm39) V93A probably damaging Het
Oas1f T G 5: 120,994,489 (GRCm39) C337G probably damaging Het
Or10al3 A G 17: 38,011,932 (GRCm39) M124V probably damaging Het
Or5p58 A T 7: 107,694,429 (GRCm39) F116Y probably benign Het
Or6c33 T A 10: 129,853,872 (GRCm39) L214H probably damaging Het
Pwwp3a C A 10: 80,074,713 (GRCm39) probably null Het
Rasl10b T C 11: 83,309,519 (GRCm39) S159P probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smg8 C A 11: 86,971,249 (GRCm39) D841Y probably damaging Het
Sox7 T C 14: 64,181,398 (GRCm39) V65A probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcerg1l A G 7: 137,878,384 (GRCm39) V326A probably benign Het
Tcl1b5 T A 12: 105,145,326 (GRCm39) W97R probably damaging Het
Tmem108 T C 9: 103,376,856 (GRCm39) R198G possibly damaging Het
Ube2ql1 T A 13: 69,887,017 (GRCm39) Q148L possibly damaging Het
Vmn1r5 A T 6: 56,962,570 (GRCm39) I82L probably benign Het
Wdr6 A T 9: 108,453,063 (GRCm39) S273R probably damaging Het
Ylpm1 C T 12: 85,043,850 (GRCm39) probably benign Het
Zfp90 G A 8: 107,152,138 (GRCm39) R617Q possibly damaging Het
Other mutations in Srsf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0412:Srsf10 UTSW 4 135,585,714 (GRCm39) missense probably damaging 1.00
R0540:Srsf10 UTSW 4 135,591,179 (GRCm39) missense possibly damaging 0.66
R1733:Srsf10 UTSW 4 135,590,476 (GRCm39) missense possibly damaging 0.53
R4957:Srsf10 UTSW 4 135,583,541 (GRCm39) missense probably damaging 1.00
R5644:Srsf10 UTSW 4 135,591,131 (GRCm39) missense possibly damaging 0.83
R5935:Srsf10 UTSW 4 135,583,553 (GRCm39) missense probably damaging 0.98
R6645:Srsf10 UTSW 4 135,590,874 (GRCm39) missense possibly damaging 0.83
R7229:Srsf10 UTSW 4 135,583,528 (GRCm39) start gained probably benign
R9703:Srsf10 UTSW 4 135,591,153 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCAGGTATGGTGACATACACTCTCAA -3'
(R):5'- TCTTAACGAAGCATCCAAGATGCACAAT -3'

Sequencing Primer
(F):5'- aaacgtcacccatacacataaatag -3'
(R):5'- GAGCTTAGAACTCCTGAGCTTG -3'
Posted On 2013-05-09