Incidental Mutation 'R2225:Srsf6'
ID 239655
Institutional Source Beutler Lab
Gene Symbol Srsf6
Ensembl Gene ENSMUSG00000016921
Gene Name serine and arginine-rich splicing factor 6
Synonyms 1210001E11Rik, Sfrs6
MMRRC Submission 040226-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R2225 (G1)
Quality Score 225
Status 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: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably 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
Akap9 A T 5: 4,127,271 (GRCm39) R3706S probably damaging Het
Btd A G 14: 31,389,017 (GRCm39) D246G probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep152 T C 2: 125,423,704 (GRCm39) E899G probably damaging Het
Cpsf6 A T 10: 117,198,941 (GRCm39) probably benign Het
Crybg3 A G 16: 59,375,041 (GRCm39) I2071T probably damaging Het
Cwc22 T A 2: 77,738,495 (GRCm39) probably benign Het
Ddah2 T A 17: 35,279,187 (GRCm39) I16N probably damaging Het
Dld T G 12: 31,391,448 (GRCm39) M123L probably benign Het
Eif5b A T 1: 38,058,304 (GRCm39) K202I unknown Het
Gm6430 T C 1: 96,953,441 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Hspa4 C T 11: 53,177,760 (GRCm39) V117M probably benign Het
Htra4 T C 8: 25,515,736 (GRCm39) D434G probably benign Het
Itgb3 A G 11: 104,556,336 (GRCm39) M726V probably benign Het
Itih1 A G 14: 30,651,534 (GRCm39) V886A possibly damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Limk1 G T 5: 134,690,410 (GRCm39) probably null Het
Lonrf1 T C 8: 36,703,252 (GRCm39) D308G probably damaging Het
Muc4 A T 16: 32,576,265 (GRCm39) probably benign Het
Muc4 G A 16: 32,587,316 (GRCm39) C2719Y possibly damaging Het
Mvb12b G A 2: 33,730,211 (GRCm39) T60I possibly damaging Het
Myh2 C T 11: 67,084,555 (GRCm39) T1698M probably benign Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Or10d5 T C 9: 39,861,833 (GRCm39) K78R possibly damaging Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or8g33 T C 9: 39,337,915 (GRCm39) I151V probably benign Het
Plekhg2 G A 7: 28,059,760 (GRCm39) P1190S probably benign Het
Reck A G 4: 43,922,837 (GRCm39) T371A probably benign Het
Rnf185 T C 11: 3,382,445 (GRCm39) D44G probably damaging Het
Rpgrip1l T C 8: 91,948,095 (GRCm39) E1196G probably benign Het
Rundc1 A G 11: 101,322,170 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,541,205 (GRCm39) Y970C probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Shprh T C 10: 11,037,979 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Tbxa2r A G 10: 81,168,983 (GRCm39) Y224C probably benign Het
Tlr5 A G 1: 182,799,941 (GRCm39) probably benign Het
Tmem270 A G 5: 134,935,492 (GRCm39) L21P probably damaging Het
Tmtc2 T C 10: 105,206,218 (GRCm39) E359G probably benign Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 A G 7: 46,314,598 (GRCm39) probably null Het
Wiz C T 17: 32,575,899 (GRCm39) V836M probably damaging Het
Zfp451 T A 1: 33,809,988 (GRCm39) probably benign 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
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
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'- TTACGCTGATGGCTGCACAG -3'
(R):5'- TGCTGTTGAGCTCGTACACG -3'

Sequencing Primer
(F):5'- ACTTATAGCGTAGGCCGGC -3'
(R):5'- TTGAGCTCGTACACGGCATC -3'
Posted On 2014-10-15