Incidental Mutation 'IGL02020:Srsf3-ps'
ID 183926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf3-ps
Ensembl Gene ENSMUSG00000078134
Gene Name serine and arginine rich splicing factor 3, pseudogene
Synonyms Gm12355
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # IGL02020
Quality Score
Status
Chromosome 11
Chromosomal Location 98515194-98516488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98516335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 13 (V13L)
Ref Sequence ENSEMBL: ENSMUSP00000100538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000104933] [ENSMUST00000107508]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073295
SMART Domains Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224

DomainStartEndE-ValueType
Pfam:Gasdermin 3 430 1.4e-132 PFAM
low complexity region 438 452 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000104933
AA Change: V13L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134
AA Change: V13L

DomainStartEndE-ValueType
RRM 10 78 7.02e-19 SMART
low complexity region 97 142 N/A INTRINSIC
low complexity region 147 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107508
SMART Domains Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 9.5e-134 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,659,577 (GRCm39) Q711L probably benign Het
Atg9b A C 5: 24,596,056 (GRCm39) N205K possibly damaging Het
Brinp3 T C 1: 146,777,865 (GRCm39) probably benign Het
Cdh20 A G 1: 110,066,078 (GRCm39) Y784C probably damaging Het
Csmd2 T A 4: 128,453,672 (GRCm39) D142E probably damaging Het
Dscam A G 16: 96,517,269 (GRCm39) L880P probably damaging Het
Gm14496 A G 2: 181,637,882 (GRCm39) T319A possibly damaging Het
Hr A G 14: 70,793,877 (GRCm39) T46A probably benign Het
Ighv1-7 A G 12: 114,502,345 (GRCm39) C41R probably damaging Het
Itga3 C T 11: 94,948,216 (GRCm39) V539I probably benign Het
Kif13a T A 13: 46,947,495 (GRCm39) I830F probably benign Het
Mphosph9 T C 5: 124,397,013 (GRCm39) N1110S probably damaging Het
Or5m11b A G 2: 85,805,579 (GRCm39) probably benign Het
Pdia3 G A 2: 121,266,900 (GRCm39) probably null Het
Phpt1 T C 2: 25,464,221 (GRCm39) I87M probably damaging Het
Psd3 T C 8: 68,426,822 (GRCm39) probably benign Het
Ranbp2 A G 10: 58,315,769 (GRCm39) E2163G probably damaging Het
Ranbp6 T C 19: 29,787,176 (GRCm39) I1059V probably benign Het
Runx2 C T 17: 44,969,486 (GRCm39) G253D probably damaging Het
S100a5 A G 3: 90,517,121 (GRCm39) probably benign Het
Skint1 T A 4: 111,882,724 (GRCm39) M256K probably benign Het
Slc9a3 C T 13: 74,306,967 (GRCm39) A364V probably damaging Het
Trip11 C T 12: 101,850,572 (GRCm39) R879Q probably damaging Het
Tubgcp3 T C 8: 12,687,780 (GRCm39) T588A possibly damaging Het
Vmn2r100 T A 17: 19,725,200 (GRCm39) V43E possibly damaging Het
Washc4 T C 10: 83,400,336 (GRCm39) S421P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wwp2 G A 8: 108,283,127 (GRCm39) R354Q probably damaging Het
Zfp804b T A 5: 6,819,118 (GRCm39) Q1315L probably damaging Het
Other mutations in Srsf3-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02304:Srsf3-ps APN 11 98,516,364 (GRCm39) missense probably benign 0.05
IGL02869:Srsf3-ps APN 11 98,516,146 (GRCm39) nonsense probably null
IGL03246:Srsf3-ps APN 11 98,516,119 (GRCm39) nonsense probably null
R0245:Srsf3-ps UTSW 11 98,516,067 (GRCm39) unclassified probably benign
R4111:Srsf3-ps UTSW 11 98,516,223 (GRCm39) missense probably damaging 1.00
R9187:Srsf3-ps UTSW 11 98,516,187 (GRCm39) missense possibly damaging 0.94
Posted On 2014-05-07