Incidental Mutation 'R7056:Srsf4'
ID 547909
Institutional Source Beutler Lab
Gene Symbol Srsf4
Ensembl Gene ENSMUSG00000028911
Gene Name serine and arginine-rich splicing factor 4
Synonyms 5730499P16Rik, SRp75, MNCb-2616, Sfrs4
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131600928-131629017 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 131628004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053819] [ENSMUST00000134943]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000053819
AA Change: R366L
SMART Domains Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: R366L

DomainStartEndE-ValueType
RRM 3 68 4.3e-21 SMART
low complexity region 71 97 N/A INTRINSIC
RRM 105 173 8.4e-17 SMART
low complexity region 179 272 N/A INTRINSIC
low complexity region 299 323 N/A INTRINSIC
low complexity region 324 403 N/A INTRINSIC
low complexity region 455 490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134943
Meta Mutation Damage Score 0.1046 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Cep97 A G 16: 55,725,935 (GRCm39) S651P probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dner C A 1: 84,558,457 (GRCm39) R169L possibly damaging Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Net1 T C 13: 3,934,845 (GRCm39) M394V probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Rnf111 A T 9: 70,360,957 (GRCm39) S501R possibly damaging Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Sox18 T C 2: 181,313,280 (GRCm39) D12G probably damaging Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (GRCm39) probably null Het
Other mutations in Srsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0087:Srsf4 UTSW 4 131,627,641 (GRCm39) unclassified probably benign
R1135:Srsf4 UTSW 4 131,627,380 (GRCm39) unclassified probably benign
R1209:Srsf4 UTSW 4 131,628,370 (GRCm39) unclassified probably benign
R1276:Srsf4 UTSW 4 131,624,996 (GRCm39) missense probably damaging 1.00
R1561:Srsf4 UTSW 4 131,625,006 (GRCm39) missense probably damaging 1.00
R1574:Srsf4 UTSW 4 131,625,006 (GRCm39) missense probably damaging 1.00
R1700:Srsf4 UTSW 4 131,627,871 (GRCm39) unclassified probably benign
R2265:Srsf4 UTSW 4 131,624,993 (GRCm39) missense probably damaging 1.00
R2269:Srsf4 UTSW 4 131,624,993 (GRCm39) missense probably damaging 1.00
R3723:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R3724:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R3737:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R3738:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R3739:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R4034:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R4035:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R4049:Srsf4 UTSW 4 131,627,854 (GRCm39) unclassified probably benign
R4535:Srsf4 UTSW 4 131,601,175 (GRCm39) missense probably damaging 1.00
R4810:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R4833:Srsf4 UTSW 4 131,627,413 (GRCm39) unclassified probably benign
R4932:Srsf4 UTSW 4 131,618,556 (GRCm39) missense probably damaging 0.99
R5291:Srsf4 UTSW 4 131,613,617 (GRCm39) critical splice donor site probably benign
R5725:Srsf4 UTSW 4 131,628,262 (GRCm39) unclassified probably benign
R6145:Srsf4 UTSW 4 131,627,605 (GRCm39) unclassified probably benign
R7294:Srsf4 UTSW 4 131,627,772 (GRCm39) missense unknown
R7964:Srsf4 UTSW 4 131,618,544 (GRCm39) missense probably benign 0.09
R8697:Srsf4 UTSW 4 131,628,042 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCGCCATGACAGTAAAAGTCG -3'
(R):5'- ATTTTGACCTGGAGCGCGAC -3'

Sequencing Primer
(F):5'- CCATGACAGTAAAAGTCGGAGCAG -3'
(R):5'- AGGTGGATCTTGACCTGGCC -3'
Posted On 2019-05-13