Incidental Mutation 'IGL03246:Srsf3-ps'
ID 414393
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: 0.461) question?
Stock # IGL03246
Quality Score
Status
Chromosome 11
Chromosomal Location 98515194-98516488 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 98516119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 85 (R85*)
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 null
Transcript: ENSMUST00000104933
AA Change: R85*
SMART Domains Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134
AA Change: R85*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,238 (GRCm39) H392Q probably benign Het
Alox8 T A 11: 69,076,841 (GRCm39) I547L probably damaging Het
Capn13 T C 17: 73,689,855 (GRCm39) H52R probably benign Het
Cfap57 T A 4: 118,433,842 (GRCm39) I979L probably benign Het
Ctdnep1 T C 11: 69,875,156 (GRCm39) probably benign Het
Ercc5 C A 1: 44,206,241 (GRCm39) P385T probably damaging Het
Fam98a C T 17: 75,845,848 (GRCm39) M299I probably damaging Het
Flcn A T 11: 59,684,936 (GRCm39) I505N possibly damaging Het
Fn1 G A 1: 71,663,455 (GRCm39) T1011I possibly damaging Het
Klhl28 T C 12: 65,004,060 (GRCm39) D151G probably benign Het
Klk13 T A 7: 43,370,422 (GRCm39) N28K probably damaging Het
Macc1 T C 12: 119,410,420 (GRCm39) V396A probably benign Het
Mageb11 C A X: 89,936,008 (GRCm39) H87Q probably benign Het
Magi2 T A 5: 20,563,948 (GRCm39) I360K probably damaging Het
Myh7b T C 2: 155,459,792 (GRCm39) I251T probably damaging Het
Naalad2 A T 9: 18,296,395 (GRCm39) I85K possibly damaging Het
Or5ae1 T C 7: 84,565,919 (GRCm39) C311R probably benign Het
Pbrm1 A T 14: 30,832,506 (GRCm39) M1490L probably benign Het
Pclo C T 5: 14,727,631 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,507,485 (GRCm39) K357R possibly damaging Het
Pnpla6 C T 8: 3,581,530 (GRCm39) T601I probably benign Het
Pof1b A T X: 111,557,817 (GRCm39) N366K probably benign Het
Prr9 A G 3: 92,030,286 (GRCm39) probably benign Het
Ptprz1 G T 6: 22,986,159 (GRCm39) A320S probably damaging Het
Ripor1 A G 8: 106,342,490 (GRCm39) Y187C possibly damaging Het
Rnf13 A G 3: 57,676,471 (GRCm39) E42G probably damaging Het
Sdf4 T C 4: 156,085,154 (GRCm39) V163A probably benign Het
Smc2 C T 4: 52,440,301 (GRCm39) Q16* probably null Het
Tbck T A 3: 132,480,331 (GRCm39) C737S probably benign Het
Tra2a A T 6: 49,226,019 (GRCm39) Y140* probably null Het
Vcpip1 A C 1: 9,816,182 (GRCm39) L734V probably benign Het
Vmn1r87 G A 7: 12,866,288 (GRCm39) probably benign Het
Other mutations in Srsf3-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Srsf3-ps APN 11 98,516,335 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02