Incidental Mutation 'R7730:Srsf6'
ID 595755
Institutional Source Beutler Lab
Gene Symbol Srsf6
Ensembl Gene ENSMUSG00000016921
Gene Name serine and arginine-rich splicing factor 6
Synonyms 1210001E11Rik, Sfrs6
MMRRC Submission 045786-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R7730 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 162773448-162779041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162773643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 18 (I18T)
Ref Sequence ENSEMBL: ENSMUSP00000141349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]
AlphaFold Q3TWW8
Predicted Effect probably damaging
Transcript: ENSMUST00000017065
AA Change: I18T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921
AA Change: I18T

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126163
AA Change: I18T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921
AA Change: I18T

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130411
AA Change: I18T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: I18T

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
low complexity region 74 100 N/A INTRINSIC
RRM 111 179 6.97e-14 SMART
low complexity region 184 280 N/A INTRINSIC
low complexity region 291 303 N/A INTRINSIC
low complexity region 313 338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193611
Meta Mutation Damage Score 0.8156 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,703 (GRCm39) H628L probably benign Het
Adam6a T A 12: 113,507,660 (GRCm39) V11E possibly damaging Het
Amotl1 T G 9: 14,467,059 (GRCm39) K660T possibly damaging Het
Ap4m1 T C 5: 138,171,077 (GRCm39) I59T probably damaging Het
Brd3 T C 2: 27,346,967 (GRCm39) Y389C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Card11 C A 5: 140,871,751 (GRCm39) R650L probably damaging Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Cnst T C 1: 179,452,650 (GRCm39) C673R probably damaging Het
Dld G T 12: 31,390,864 (GRCm39) T194K probably benign Het
Dnah12 T A 14: 26,507,890 (GRCm39) W1714R probably damaging Het
Dsg1a T G 18: 20,464,768 (GRCm39) V421G possibly damaging Het
Fer1l4 G T 2: 155,890,854 (GRCm39) P188Q probably benign Het
Gpr158 T C 2: 21,831,158 (GRCm39) S753P probably damaging Het
Hdc A T 2: 126,436,002 (GRCm39) M623K possibly damaging Het
Herc1 CAACCCTGGTAAC CAAC 9: 66,400,472 (GRCm39) probably benign Het
Igf2r A T 17: 12,954,878 (GRCm39) F203I probably damaging Het
Jag2 A T 12: 112,885,661 (GRCm39) I145N probably damaging Het
Kcnt2 T A 1: 140,446,686 (GRCm39) F694I probably benign Het
Lpl A T 8: 69,340,100 (GRCm39) R32* probably null Het
Mcpt4 T A 14: 56,297,428 (GRCm39) I243L probably benign Het
Mtf1 C A 4: 124,732,412 (GRCm39) A490E possibly damaging Het
Mycbp2 A T 14: 103,360,791 (GRCm39) M4497K probably damaging Het
Myog T C 1: 134,218,914 (GRCm39) probably null Het
Nav2 T C 7: 49,222,145 (GRCm39) S1757P probably damaging Het
Or7g18 T G 9: 18,786,709 (GRCm39) F26V probably benign Het
Osmr T A 15: 6,853,963 (GRCm39) I583F probably damaging Het
Phf19 T A 2: 34,785,816 (GRCm39) E551V probably damaging Het
Plxnb2 A G 15: 89,046,533 (GRCm39) M870T probably benign Het
Psat1 A G 19: 15,895,720 (GRCm39) F83L probably damaging Het
Reep1 T A 6: 71,757,725 (GRCm39) V108D possibly damaging Het
Rorc A G 3: 94,300,421 (GRCm39) T455A probably benign Het
Serinc5 T G 13: 92,821,698 (GRCm39) I169S probably damaging Het
Serpinb6c T C 13: 34,083,292 (GRCm39) M41V probably damaging Het
Sgsm3 A T 15: 80,892,927 (GRCm39) N335Y probably damaging Het
Slamf7 C T 1: 171,468,589 (GRCm39) R101H possibly damaging Het
Slc17a4 A T 13: 24,084,503 (GRCm39) L427* probably null Het
Slc35a5 T C 16: 44,964,246 (GRCm39) Q329R probably damaging Het
Slc45a1 C T 4: 150,715,397 (GRCm39) C656Y probably damaging Het
Syn3 T G 10: 86,284,773 (GRCm39) H109P probably benign Het
Synj2 T C 17: 6,066,562 (GRCm39) V580A probably benign Het
Tbc1d9b T C 11: 50,026,742 (GRCm39) V70A possibly damaging Het
Tc2n A G 12: 101,617,406 (GRCm39) Y402H probably damaging Het
Tmbim4 T C 10: 120,059,767 (GRCm39) C164R possibly damaging Het
Tnfrsf11b T A 15: 54,117,470 (GRCm39) R262* probably null Het
Tnip1 T C 11: 54,828,805 (GRCm39) K121E probably benign Het
Tut1 T C 19: 8,941,740 (GRCm39) probably null Het
Uhrf2 T A 19: 30,052,501 (GRCm39) C332S probably damaging Het
Vmn2r101 A G 17: 19,831,950 (GRCm39) I649V possibly damaging Het
Vwa8 A G 14: 79,232,589 (GRCm39) T644A probably benign Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp384 A G 6: 125,008,635 (GRCm39) I306V probably benign Het
Zfp964 A G 8: 70,116,360 (GRCm39) E320G possibly damaging Het
Zmym2 A T 14: 57,193,638 (GRCm39) Y1151F possibly damaging Het
Other mutations in Srsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Srsf6 APN 2 162,773,627 (GRCm39) missense probably damaging 1.00
IGL01960:Srsf6 APN 2 162,775,674 (GRCm39) missense probably damaging 1.00
R1292:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1789:Srsf6 UTSW 2 162,776,408 (GRCm39) unclassified probably benign
R1936:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1937:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1939:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1940:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R2225:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R2226:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R2227:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R4026:Srsf6 UTSW 2 162,776,211 (GRCm39) unclassified probably benign
R4290:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4292:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4293:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4294:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4295:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4592:Srsf6 UTSW 2 162,773,643 (GRCm39) missense probably damaging 0.99
R4613:Srsf6 UTSW 2 162,775,629 (GRCm39) missense probably benign 0.45
R4657:Srsf6 UTSW 2 162,775,347 (GRCm39) missense probably benign 0.01
R7378:Srsf6 UTSW 2 162,776,489 (GRCm39) missense unknown
R7446:Srsf6 UTSW 2 162,776,636 (GRCm39) missense unknown
R7578:Srsf6 UTSW 2 162,774,782 (GRCm39) missense probably benign 0.00
R7908:Srsf6 UTSW 2 162,775,760 (GRCm39) missense unknown
R9498:Srsf6 UTSW 2 162,774,009 (GRCm39) missense probably benign 0.07
X0020:Srsf6 UTSW 2 162,775,418 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTTACGCTGATGGCTGCAC -3'
(R):5'- TTGAGCTCGTACACGGCATC -3'

Sequencing Primer
(F):5'- ACTTATAGCGTAGGCCGGC -3'
(R):5'- GGAGTCCTCGAACTCCACG -3'
Posted On 2019-11-12