Incidental Mutation 'IGL00907:Srsf5'
ID28705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf5
Ensembl Gene ENSMUSG00000021134
Gene Nameserine/arginine-rich splicing factor 5
SynonymsSfrs5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL00907
Quality Score
Status
Chromosome12
Chromosomal Location80945504-80950507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80947834 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 112 (V112A)
Ref Sequence ENSEMBL: ENSMUSP00000105985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094693] [ENSMUST00000110351] [ENSMUST00000110352] [ENSMUST00000110354] [ENSMUST00000110356] [ENSMUST00000138434]
Predicted Effect probably damaging
Transcript: ENSMUST00000094693
AA Change: V112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134
AA Change: V112A

DomainStartEndE-ValueType
RRM 5 70 4.56e-18 SMART
low complexity region 73 105 N/A INTRINSIC
RRM 109 177 5.58e-13 SMART
low complexity region 180 230 N/A INTRINSIC
low complexity region 235 267 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110351
AA Change: V112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134
AA Change: V112A

DomainStartEndE-ValueType
RRM 5 70 4.56e-18 SMART
low complexity region 73 105 N/A INTRINSIC
RRM 109 177 5.58e-13 SMART
low complexity region 180 231 N/A INTRINSIC
low complexity region 236 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110352
AA Change: V112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134
AA Change: V112A

DomainStartEndE-ValueType
RRM 5 70 4.56e-18 SMART
low complexity region 73 105 N/A INTRINSIC
RRM 109 177 5.58e-13 SMART
low complexity region 180 230 N/A INTRINSIC
low complexity region 235 267 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110354
AA Change: V112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134
AA Change: V112A

DomainStartEndE-ValueType
RRM 5 70 4.56e-18 SMART
low complexity region 73 105 N/A INTRINSIC
RRM 109 177 5.58e-13 SMART
low complexity region 180 231 N/A INTRINSIC
low complexity region 236 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110356
AA Change: V112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134
AA Change: V112A

DomainStartEndE-ValueType
RRM 5 70 4.56e-18 SMART
low complexity region 73 105 N/A INTRINSIC
RRM 109 177 5.58e-13 SMART
low complexity region 180 230 N/A INTRINSIC
low complexity region 235 267 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133783
Predicted Effect probably benign
Transcript: ENSMUST00000138434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219062
Coding Region Coverage
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, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Srsf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0344:Srsf5 UTSW 12 80947524 missense probably benign 0.00
R0827:Srsf5 UTSW 12 80949540 missense probably damaging 1.00
R1552:Srsf5 UTSW 12 80949745 unclassified probably benign
R2519:Srsf5 UTSW 12 80949096 missense probably damaging 0.99
R4926:Srsf5 UTSW 12 80947301 utr 3 prime probably benign
R5505:Srsf5 UTSW 12 80949083 unclassified probably benign
R5786:Srsf5 UTSW 12 80949537 missense possibly damaging 0.48
R7810:Srsf5 UTSW 12 80949946 missense unknown
R8265:Srsf5 UTSW 12 80947336 missense possibly damaging 0.95
Posted On2013-04-17