Incidental Mutation 'IGL03284:Srek1'
ID 415667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srek1
Ensembl Gene ENSMUSG00000032621
Gene Name splicing regulatory glutamine/lysine-rich protein 1
Synonyms SRrp86, Sfrs12, AL118220, SRrp508
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03284
Quality Score
Status
Chromosome 13
Chromosomal Location 103875856-103911116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103897045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 99 (V99F)
Ref Sequence ENSEMBL: ENSMUSP00000147737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074616] [ENSMUST00000210489] [ENSMUST00000210836] [ENSMUST00000211322]
AlphaFold Q8BZX4
Predicted Effect possibly damaging
Transcript: ENSMUST00000074616
AA Change: V215F

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: V215F

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
RRM 70 141 1.22e-18 SMART
coiled coil region 259 298 N/A INTRINSIC
low complexity region 356 395 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 414 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209961
Predicted Effect probably damaging
Transcript: ENSMUST00000210489
AA Change: V99F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210643
Predicted Effect probably benign
Transcript: ENSMUST00000210836
AA Change: V99F

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211322
AA Change: V99F

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211491
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,354 (GRCm39) probably benign Het
Atxn7l3b T C 10: 112,764,431 (GRCm39) D66G probably benign Het
Dmac2 T C 7: 25,321,851 (GRCm39) probably null Het
Ephb2 A G 4: 136,388,827 (GRCm39) M590T probably damaging Het
Fbxo41 C T 6: 85,456,747 (GRCm39) R474H probably damaging Het
Fcgbp G T 7: 27,784,857 (GRCm39) A306S possibly damaging Het
Hapstr1 A G 16: 8,673,786 (GRCm39) I238V possibly damaging Het
Hmg20a A G 9: 56,388,901 (GRCm39) D156G probably benign Het
Mast4 A G 13: 102,887,905 (GRCm39) V1168A probably damaging Het
Oog2 A G 4: 143,923,177 (GRCm39) probably benign Het
Pate12 T A 9: 36,344,759 (GRCm39) C96S probably damaging Het
Pkhd1l1 T A 15: 44,410,914 (GRCm39) probably benign Het
Psmd6 A T 14: 14,112,546 (GRCm38) N351K probably benign Het
Ralgps1 T C 2: 33,036,577 (GRCm39) probably benign Het
Rbl1 C T 2: 157,035,989 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,004,142 (GRCm39) V399I probably benign Het
Styxl1 A G 5: 135,785,949 (GRCm39) V32A possibly damaging Het
Tnn C T 1: 159,953,022 (GRCm39) V673I probably benign Het
Vmn2r107 T A 17: 20,577,173 (GRCm39) D390E probably benign Het
Other mutations in Srek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Srek1 APN 13 103,897,090 (GRCm39) missense probably damaging 1.00
IGL01834:Srek1 APN 13 103,885,293 (GRCm39) unclassified probably benign
IGL03029:Srek1 APN 13 103,900,468 (GRCm39) utr 5 prime probably benign
IGL03198:Srek1 APN 13 103,881,443 (GRCm39) splice site probably null
inscruitable UTSW 13 103,910,894 (GRCm39) missense probably damaging 1.00
PIT4453001:Srek1 UTSW 13 103,881,291 (GRCm39) critical splice donor site probably null
R0080:Srek1 UTSW 13 103,880,194 (GRCm39) missense unknown
R0082:Srek1 UTSW 13 103,880,194 (GRCm39) missense unknown
R0106:Srek1 UTSW 13 103,880,131 (GRCm39) missense unknown
R0106:Srek1 UTSW 13 103,880,131 (GRCm39) missense unknown
R0506:Srek1 UTSW 13 103,897,098 (GRCm39) missense probably damaging 0.99
R0569:Srek1 UTSW 13 103,885,370 (GRCm39) unclassified probably benign
R0969:Srek1 UTSW 13 103,889,011 (GRCm39) unclassified probably benign
R1617:Srek1 UTSW 13 103,880,112 (GRCm39) missense unknown
R2098:Srek1 UTSW 13 103,881,363 (GRCm39) missense unknown
R2423:Srek1 UTSW 13 103,889,536 (GRCm39) nonsense probably null
R3950:Srek1 UTSW 13 103,881,403 (GRCm39) missense unknown
R4347:Srek1 UTSW 13 103,885,267 (GRCm39) missense probably null
R4676:Srek1 UTSW 13 103,894,695 (GRCm39) splice site probably benign
R4915:Srek1 UTSW 13 103,889,194 (GRCm39) utr 3 prime probably benign
R4915:Srek1 UTSW 13 103,889,071 (GRCm39) unclassified probably benign
R5119:Srek1 UTSW 13 103,889,064 (GRCm39) unclassified probably benign
R5677:Srek1 UTSW 13 103,895,752 (GRCm39) missense probably damaging 0.98
R6135:Srek1 UTSW 13 103,910,894 (GRCm39) missense probably damaging 1.00
R6458:Srek1 UTSW 13 103,880,076 (GRCm39) missense probably benign 0.01
R7406:Srek1 UTSW 13 103,905,890 (GRCm39) missense probably damaging 1.00
R8537:Srek1 UTSW 13 103,888,957 (GRCm39) unclassified probably benign
R9269:Srek1 UTSW 13 103,889,654 (GRCm39) critical splice acceptor site probably null
Posted On 2016-08-02