Incidental Mutation 'R2269:Srsf4'
ID 242295
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 040269-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R2269 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 131600928-131629017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131624993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 130 (V130A)
Ref Sequence ENSEMBL: ENSMUSP00000061474 (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 probably damaging
Transcript: ENSMUST00000053819
AA Change: V130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: V130A

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: ENSMUST00000124738
Predicted Effect probably benign
Transcript: ENSMUST00000134943
Meta Mutation Damage Score 0.9362 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (79/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8a A C 11: 109,917,718 (GRCm39) F1574V probably damaging Het
Adh6a A T 3: 138,034,857 (GRCm39) I329L probably benign Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ager A T 17: 34,818,124 (GRCm39) I185F probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Arhgef16 T A 4: 154,369,490 (GRCm39) H329L probably damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Banp A G 8: 122,702,662 (GRCm39) T70A probably benign Het
Bcl11b T C 12: 107,881,910 (GRCm39) T802A possibly damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Cflar G A 1: 58,780,206 (GRCm39) probably null Het
Clec16a G A 16: 10,462,650 (GRCm39) R656H probably damaging Het
Cntn1 A G 15: 92,192,863 (GRCm39) probably benign Het
Coasy A G 11: 100,976,708 (GRCm39) T493A probably benign Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp3a41b A T 5: 145,514,976 (GRCm39) V83D probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Decr2 C A 17: 26,302,858 (GRCm39) V173L probably benign Het
Defb11 A G 8: 22,395,444 (GRCm39) *78Q probably null Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Dusp1 A T 17: 26,726,093 (GRCm39) I200N probably damaging Het
Efna1 G A 3: 89,183,646 (GRCm39) A60V possibly damaging Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Epb41 T A 4: 131,691,458 (GRCm39) N623I probably benign Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gbe1 C T 16: 70,233,840 (GRCm39) A239V probably damaging Het
Gpatch3 C T 4: 133,311,118 (GRCm39) A518V possibly damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hnrnpul1 A G 7: 25,450,299 (GRCm39) Y138H probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrc43 A T 5: 123,641,354 (GRCm39) T513S probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh5 T C 15: 73,664,997 (GRCm39) N258D probably benign Het
Mrpl28 T C 17: 26,345,285 (GRCm39) V235A probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or1e23 A G 11: 73,407,309 (GRCm39) S239P probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Pkhd1 C T 1: 20,604,759 (GRCm39) probably null Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Pxdn T A 12: 30,055,774 (GRCm39) V1220E probably damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rtel1 G T 2: 180,977,796 (GRCm39) Q292H probably benign Het
Sh3bp4 G A 1: 89,073,314 (GRCm39) V721I possibly damaging Het
Slc2a10 T A 2: 165,356,701 (GRCm39) C120* probably null Het
Srd5a2 T C 17: 74,331,485 (GRCm39) R171G probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmem252 T C 19: 24,651,455 (GRCm39) I8T probably benign Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r107 T C 17: 20,595,817 (GRCm39) I790T possibly damaging Het
Vmn2r77 T C 7: 86,460,897 (GRCm39) V741A probably benign Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Ylpm1 T A 12: 85,061,824 (GRCm39) V575E unknown Het
Zbp1 T A 2: 173,060,616 (GRCm39) probably benign Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zkscan5 A G 5: 145,142,277 (GRCm39) Y58C probably damaging 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
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'- TAGGTCGCCATCTTTATCCAGATC -3'
(R):5'- TCCGGCTTCTGGAGTAAGAC -3'

Sequencing Primer
(F):5'- AGCTGCACTTCCCACGTCTG -3'
(R):5'- TTCTGGAGTAAGACCGGCG -3'
Posted On 2014-10-16