Incidental Mutation 'R2226:Srsf6'
ID 239712
Institutional Source Beutler Lab
Gene Symbol Srsf6
Ensembl Gene ENSMUSG00000016921
Gene Name serine and arginine-rich splicing factor 6
Synonyms 1210001E11Rik, Sfrs6
MMRRC Submission 040227-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R2226 (G1)
Quality Score 177
Status Not validated
Chromosome 2
Chromosomal Location 162773448-162779041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 162773619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 10 (S10N)
Ref Sequence ENSEMBL: ENSMUSP00000119065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]
AlphaFold Q3TWW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000017065
AA Change: S10N

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921
AA Change: S10N

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000126163
AA Change: S10N

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921
AA Change: S10N

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130411
AA Change: S10N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: S10N

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 0.2219 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,190,295 (GRCm39) V2E possibly damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Ascc3 A G 10: 50,630,148 (GRCm39) T1746A probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Atp1b3 A G 9: 96,225,329 (GRCm39) F113S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc150 A G 1: 54,404,084 (GRCm39) I943V probably null Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Efhb A T 17: 53,769,457 (GRCm39) probably null Het
Elfn2 A G 15: 78,558,443 (GRCm39) W35R probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Epha2 G A 4: 141,048,548 (GRCm39) R569H probably damaging Het
Gabrg2 A T 11: 41,862,735 (GRCm39) F116L probably damaging Het
Gm11555 T G 11: 99,540,585 (GRCm39) R141S unknown Het
Hectd3 T C 4: 116,852,886 (GRCm39) I96T possibly damaging Het
Hnrnpul2 T A 19: 8,802,349 (GRCm39) N405K probably damaging Het
Iigp1 A T 18: 60,522,960 (GRCm39) K26I possibly damaging Het
Kirrel2 T C 7: 30,153,579 (GRCm39) K260R probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt19 T C 11: 100,032,401 (GRCm39) E260G probably damaging Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mthfd2l G T 5: 91,096,693 (GRCm39) E105* probably null Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Ndufaf5 T C 2: 140,030,780 (GRCm39) V222A probably benign Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Nsun7 T A 5: 66,418,562 (GRCm39) Y97* probably null Het
Nxph3 T C 11: 95,404,990 (GRCm39) Y17C probably benign Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or4k1 A G 14: 50,378,076 (GRCm39) S7P probably damaging Het
Or51a5 A G 7: 102,771,115 (GRCm39) M292T probably benign Het
Or5aq1 A C 2: 86,966,590 (GRCm39) V25G possibly damaging Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
P2rx2 A G 5: 110,490,745 (GRCm39) F26S probably damaging Het
Pank1 A T 19: 34,804,763 (GRCm39) L131Q probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppwd1 A G 13: 104,353,753 (GRCm39) L335P probably damaging Het
Ptch1 A G 13: 63,661,485 (GRCm39) S1218P probably damaging Het
Ptpn4 C T 1: 119,610,515 (GRCm39) R664Q probably damaging Het
Semp2l1 A T 1: 32,584,934 (GRCm39) H325Q probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slc22a19 C T 19: 7,661,215 (GRCm39) V320M possibly damaging Het
Slc25a33 A T 4: 149,838,306 (GRCm39) I122N probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Ttc12 A G 9: 49,353,135 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably 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
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
R7730:Srsf6 UTSW 2 162,773,643 (GRCm39) missense probably damaging 0.99
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'- GCCATTTTAGAGGCCCTGC -3'
Posted On 2014-10-15