Incidental Mutation 'R0087:Srsf4'
ID 19940
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 038374-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 4
Chromosomal Location 131600928-131629017 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 131627641 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 noncoding transcript
Transcript: ENSMUST00000030743
SMART Domains Protein: ENSMUSP00000030743
Gene: ENSMUSG00000028911

DomainStartEndE-ValueType
RRM 14 73 1.09e0 SMART
low complexity region 76 102 N/A INTRINSIC
RRM 110 178 2e-14 SMART
low complexity region 184 277 N/A INTRINSIC
low complexity region 304 328 N/A INTRINSIC
low complexity region 329 408 N/A INTRINSIC
low complexity region 460 496 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000053819
AA Change: E245G
SMART Domains Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: E245G

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 noncoding transcript
Transcript: ENSMUST00000121250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124738
Predicted Effect probably benign
Transcript: ENSMUST00000134943
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Srsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7056:Srsf4 UTSW 4 131,628,004 (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'- TGGTAGCAGTAAAAGCAGCCATTCG -3'
(R):5'- AGACTCTGCCTTGGCATGTTCG -3'

Sequencing Primer
(F):5'- CATTCGAAGAGCCGGTCTC -3'
(R):5'- tgctgctgctgctactg -3'
Posted On 2013-04-11