Incidental Mutation 'R5261:Srsf1'
ID 401455
Institutional Source Beutler Lab
Gene Symbol Srsf1
Ensembl Gene ENSMUSG00000018379
Gene Name serine and arginine-rich splicing factor 1
Synonyms 1110054N12Rik, 6330415C05Rik, 5730507C05Rik, Sfrs1
MMRRC Submission 042830-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5261 (G1)
Quality Score 153
Status Validated
Chromosome 11
Chromosomal Location 87938199-87944581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87938684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 7 (I7N)
Ref Sequence ENSEMBL: ENSMUSP00000120595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079866] [ENSMUST00000107920] [ENSMUST00000139129]
AlphaFold Q6PDM2
PDB Structure Solution structure of RRM domain in splicing factor 2 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079866
AA Change: I7N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: I7N

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 4.97e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107920
AA Change: I7N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: I7N

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 1.39e-8 SMART
low complexity region 196 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132983
Predicted Effect probably benign
Transcript: ENSMUST00000134824
SMART Domains Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
RRM 32 98 1.43e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000139129
AA Change: I7N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: I7N

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 1.39e-8 SMART
low complexity region 196 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181900
Predicted Effect probably benign
Transcript: ENSMUST00000172186
SMART Domains Protein: ENSMUSP00000128190
Gene: ENSMUSG00000018379

DomainStartEndE-ValueType
SCOP:d1fjeb2 17 43 5e-3 SMART
PDB:2M8D|B 22 47 8e-12 PDB
Blast:RRM 25 47 1e-8 BLAST
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 96% (64/67)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik C G 2: 152,282,777 (GRCm39) P211A probably damaging Het
Ambra1 G A 2: 91,715,951 (GRCm39) V761M probably damaging Het
Amfr T A 8: 94,702,798 (GRCm39) probably null Het
Asphd1 C A 7: 126,545,287 (GRCm39) A357S probably benign Het
Brd3 C A 2: 27,353,931 (GRCm39) Q60H probably damaging Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cep152 T A 2: 125,406,125 (GRCm39) H1469L probably benign Het
Coro1a G T 7: 126,299,816 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,171,555 (GRCm39) L871Q probably benign Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Enpep T G 3: 129,099,075 (GRCm39) D467A probably damaging Het
Extl2 G A 3: 115,821,013 (GRCm39) A273T probably benign Het
Foxi3 T A 6: 70,937,500 (GRCm39) F218Y probably damaging Het
Golga2 A G 2: 32,194,166 (GRCm39) M521V probably benign Het
Gpr142 T A 11: 114,695,168 (GRCm39) N44K probably damaging Het
Gtf2ird2 A G 5: 134,245,061 (GRCm39) I440V probably benign Het
Gucy1b2 T A 14: 62,642,028 (GRCm39) K698I probably damaging Het
Hspa1b T C 17: 35,177,983 (GRCm39) M1V probably null Het
Ints9 T A 14: 65,245,521 (GRCm39) Y260N probably benign Het
Khdc3 T G 9: 73,010,768 (GRCm39) V182G possibly damaging Het
Ky A G 9: 102,414,798 (GRCm39) probably null Het
Map2k1 T A 9: 64,098,843 (GRCm39) I263F probably damaging Het
Or13a18 A C 7: 140,190,576 (GRCm39) I166L probably benign Het
Or2t47 T C 11: 58,442,877 (GRCm39) S63G probably benign Het
Or5ak25 A G 2: 85,269,241 (GRCm39) V87A probably benign Het
Otogl T A 10: 107,613,453 (GRCm39) H2004L probably benign Het
Palmd T C 3: 116,717,009 (GRCm39) H496R probably benign Het
Papolb C G 5: 142,515,409 (GRCm39) R78P possibly damaging Het
Pcdh10 G A 3: 45,336,247 (GRCm39) G854R probably damaging Het
Pdcd11 A G 19: 47,101,976 (GRCm39) I1054V probably benign Het
Pik3ap1 A T 19: 41,364,545 (GRCm39) L58Q probably damaging Het
Ppp2ca A G 11: 51,989,937 (GRCm39) K21R probably benign Het
Prmt5 A C 14: 54,745,373 (GRCm39) I598S probably damaging Het
Pycr1 T A 11: 120,532,050 (GRCm39) I239F probably damaging Het
R3hdm2 C T 10: 127,334,285 (GRCm39) R896C probably damaging Het
Rev3l C T 10: 39,722,725 (GRCm39) P699S probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Sel1l A T 12: 91,791,658 (GRCm39) M351K possibly damaging Het
Sesn2 A G 4: 132,226,617 (GRCm39) L159P probably damaging Het
Slc35f4 T A 14: 49,540,946 (GRCm39) probably benign Het
Slc3a1 C A 17: 85,359,403 (GRCm39) N409K probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slco1c1 T C 6: 141,492,502 (GRCm39) F246S probably damaging Het
Socs2 T G 10: 95,228,681 (GRCm39) I190L unknown Het
Stox1 T A 10: 62,503,620 (GRCm39) H145L probably damaging Het
Trap1 A T 16: 3,874,286 (GRCm39) I243N probably damaging Het
Trav7-3 T C 14: 53,681,207 (GRCm39) I83T probably benign Het
Trmt9b T C 8: 36,979,078 (GRCm39) I227T probably benign Het
Tuft1 A T 3: 94,546,712 (GRCm39) I42K possibly damaging Het
Umps A G 16: 33,787,344 (GRCm39) V3A probably benign Het
Vim A C 2: 13,579,643 (GRCm39) E134A probably null Het
Vmn1r28 C A 6: 58,242,524 (GRCm39) H122Q probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vsig10l T A 7: 43,120,274 (GRCm39) V760D probably damaging Het
Xrn1 A G 9: 95,927,596 (GRCm39) D1460G probably benign Het
Zfp282 A G 6: 47,874,824 (GRCm39) D343G probably damaging Het
Zfp35 A G 18: 24,136,778 (GRCm39) H374R probably damaging Het
Other mutations in Srsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Srsf1 APN 11 87,940,007 (GRCm39) missense possibly damaging 0.88
IGL02949:Srsf1 APN 11 87,940,352 (GRCm39) intron probably benign
IGL03100:Srsf1 APN 11 87,939,954 (GRCm39) missense probably damaging 1.00
R4898:Srsf1 UTSW 11 87,940,788 (GRCm39) splice site probably null
R5328:Srsf1 UTSW 11 87,940,819 (GRCm39) utr 3 prime probably benign
R5593:Srsf1 UTSW 11 87,938,705 (GRCm39) missense possibly damaging 0.47
R5849:Srsf1 UTSW 11 87,938,684 (GRCm39) missense possibly damaging 0.56
R6143:Srsf1 UTSW 11 87,940,425 (GRCm39) intron probably benign
R7151:Srsf1 UTSW 11 87,940,084 (GRCm39) nonsense probably null
R8099:Srsf1 UTSW 11 87,940,082 (GRCm39) missense probably benign
R8294:Srsf1 UTSW 11 87,939,467 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATAAAGGCGCCATTTTGGAG -3'
(R):5'- TATGTTCCAAGGCCTCCGAG -3'

Sequencing Primer
(F):5'- CATTTTGGAGCGGCCGC -3'
(R):5'- ACGCTATCTCCTCAAGGCCG -3'
Posted On 2016-07-06