Incidental Mutation 'R6645:Srsf10'
ID 526059
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 044766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 135583058-135597219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135590874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 159 (S159P)
Ref Sequence ENSEMBL: ENSMUSP00000095455 (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: S159P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095455
Gene: ENSMUSG00000028676
AA Change: S159P

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: S159P
SMART Domains Protein: ENSMUSP00000099603
Gene: ENSMUSG00000028676
AA Change: S159P

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: S160P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101479
Gene: ENSMUSG00000028676
AA Change: S160P

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: S160P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114564
Gene: ENSMUSG00000028676
AA Change: S160P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anp32e T A 3: 95,844,414 (GRCm39) F95I probably damaging Het
Arap1 A G 7: 101,057,318 (GRCm39) K628R possibly damaging Het
Arid4b A T 13: 14,294,737 (GRCm39) E6D probably damaging Het
Atxn10 G T 15: 85,260,904 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,974 (GRCm39) I678V possibly damaging Het
Ccdc18 T A 5: 108,286,796 (GRCm39) V110D probably benign Het
Cep85l C T 10: 53,177,768 (GRCm39) E322K probably benign Het
Cilp A T 9: 65,186,587 (GRCm39) Y894F possibly damaging Het
Ddx4 A G 13: 112,777,708 (GRCm39) S62P possibly damaging Het
Dph7 T C 2: 24,855,663 (GRCm39) V154A probably benign Het
Ephb6 T C 6: 41,594,206 (GRCm39) S579P probably benign Het
Fam53a G T 5: 33,758,128 (GRCm39) Q332K probably benign Het
Fancm A G 12: 65,152,874 (GRCm39) D1110G probably damaging Het
Fh1 A T 1: 175,442,442 (GRCm39) V136E possibly damaging Het
Greb1 G T 12: 16,748,580 (GRCm39) H1132Q probably benign Het
Jph1 A G 1: 17,161,985 (GRCm39) S226P probably damaging Het
Kbtbd8 C T 6: 95,103,730 (GRCm39) R460* probably null Het
Lama5 T A 2: 179,821,463 (GRCm39) N3059Y probably damaging Het
Lipc G A 9: 70,711,030 (GRCm39) T289I probably damaging Het
Lrrc2 T C 9: 110,799,175 (GRCm39) W241R probably damaging Het
Mfn2 T A 4: 147,979,069 (GRCm39) I88F probably damaging Het
Mms19 G C 19: 41,943,630 (GRCm39) N366K probably benign Het
Myo15a A G 11: 60,368,118 (GRCm39) T293A probably benign Het
Ndfip2 T A 14: 105,529,707 (GRCm39) Y179N probably damaging Het
Notch4 A G 17: 34,806,790 (GRCm39) D1909G probably benign Het
Obscn C T 11: 58,976,088 (GRCm39) S2013N probably damaging Het
Oca2 G T 7: 55,964,522 (GRCm39) A357S probably benign Het
Or8b43 T C 9: 38,360,219 (GRCm39) L17S probably damaging Het
Or8g35 T A 9: 39,381,562 (GRCm39) L153F probably benign Het
Pde7b C A 10: 20,486,312 (GRCm39) probably null Het
Ppef2 T C 5: 92,378,320 (GRCm39) N625S probably benign Het
Prom1 A T 5: 44,204,856 (GRCm39) L192Q probably damaging Het
Satb2 T C 1: 56,836,166 (GRCm39) I542V possibly damaging Het
Sgpp2 C T 1: 78,336,799 (GRCm39) T59M probably damaging Het
Skint6 T C 4: 112,749,235 (GRCm39) T782A possibly damaging Het
Slc13a4 G T 6: 35,245,774 (GRCm39) Q624K probably benign Het
Slc9a3 T A 13: 74,312,291 (GRCm39) H629Q probably damaging Het
Slitrk3 G T 3: 72,957,194 (GRCm39) A526E probably benign Het
Spata31e2 T A 1: 26,722,198 (GRCm39) D994V probably benign Het
Sptssa T C 12: 54,693,275 (GRCm39) Y53C probably damaging Het
Tbce T C 13: 14,179,814 (GRCm39) T341A probably benign Het
Tdrd6 A G 17: 43,935,423 (GRCm39) L1875P probably benign Het
Tkt G A 14: 30,292,168 (GRCm39) G425R probably damaging Het
Tmprss7 T C 16: 45,511,326 (GRCm39) I17M possibly damaging Het
Ttc21b T C 2: 66,066,721 (GRCm39) S311G probably benign Het
Ubr5 A G 15: 38,029,750 (GRCm39) Y492H probably damaging Het
Ush2a T C 1: 188,255,528 (GRCm39) I1535T probably damaging Het
Vmn2r17 A T 5: 109,576,247 (GRCm39) N373Y probably damaging Het
Vmn2r6 A T 3: 64,464,297 (GRCm39) V179E probably damaging Het
Vps13b A G 15: 35,910,451 (GRCm39) E3405G probably benign Het
Wac A T 18: 7,973,523 (GRCm39) Q212H probably damaging Het
Washc4 C T 10: 83,408,059 (GRCm39) R555* probably null Het
Zmat4 G A 8: 24,287,417 (GRCm39) probably null Het
Other mutations in Srsf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0378:Srsf10 UTSW 4 135,590,501 (GRCm39) missense possibly damaging 0.96
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
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'- CTTACAGTCCTAGAAAGTAAGTGTGG -3'
(R):5'- GGACTTGGACCGTGATCTTG -3'

Sequencing Primer
(F):5'- GCAAGCTCAGGAGTTCTAAGCTC -3'
(R):5'- ACTTGGACCGTGATCTTGAATTG -3'
Posted On 2018-06-22