Incidental Mutation 'IGL02942:Snrpe'
ID 364527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpe
Ensembl Gene ENSMUSG00000090553
Gene Name small nuclear ribonucleoprotein E
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL02942
Quality Score
Status
Chromosome 1
Chromosomal Location 133531609-133538018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133536669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 37 (E37G)
Ref Sequence ENSEMBL: ENSMUSP00000127164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164096] [ENSMUST00000164574] [ENSMUST00000166291] [ENSMUST00000166915] [ENSMUST00000171264] [ENSMUST00000172079]
AlphaFold P62305
Predicted Effect probably damaging
Transcript: ENSMUST00000164096
AA Change: E37G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127164
Gene: ENSMUSG00000090553
AA Change: E37G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Sm 23 83 9.42e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164574
SMART Domains Protein: ENSMUSP00000131061
Gene: ENSMUSG00000090553

DomainStartEndE-ValueType
low complexity region 35 52 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166291
AA Change: E37G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132376
Gene: ENSMUSG00000090553
AA Change: E37G

DomainStartEndE-ValueType
PDB:4F7U|H 1 48 7e-19 PDB
SCOP:d1b34b_ 16 47 1e-3 SMART
Blast:Sm 23 48 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166915
AA Change: E37G

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128400
Gene: ENSMUSG00000090553
AA Change: E37G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Sm 23 89 9.84e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171264
Predicted Effect probably benign
Transcript: ENSMUST00000172079
SMART Domains Protein: ENSMUSP00000133244
Gene: ENSMUSG00000090553

DomainStartEndE-ValueType
low complexity region 35 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180718
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for an ENU-induced mutation display severely decreased testis weight and reduced spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,033,378 (GRCm39) D679E probably damaging Het
Adh6a A T 3: 138,030,642 (GRCm39) D88V probably damaging Het
Ank3 G A 10: 69,809,707 (GRCm39) V1123I probably damaging Het
Apba1 T C 19: 23,922,335 (GRCm39) V801A possibly damaging Het
Bcl2a1a C T 9: 88,839,095 (GRCm39) probably benign Het
Brd8 A G 18: 34,743,680 (GRCm39) V215A possibly damaging Het
Cdk17 G A 10: 93,074,830 (GRCm39) V454I probably benign Het
Chd5 G A 4: 152,470,182 (GRCm39) G1876D probably damaging Het
Clec4g T C 8: 3,768,356 (GRCm39) E125G probably damaging Het
Col24a1 G A 3: 145,247,420 (GRCm39) G1602D probably damaging Het
Depdc7 A C 2: 104,558,439 (GRCm39) L194R probably damaging Het
Dgke T G 11: 88,946,195 (GRCm39) N202H probably benign Het
Dkk2 T A 3: 131,883,798 (GRCm39) C233S probably damaging Het
Dmpk A C 7: 18,826,166 (GRCm39) D542A probably damaging Het
Epb41l4a G A 18: 34,007,254 (GRCm39) R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 (GRCm39) Q1438L probably damaging Het
Gcgr A G 11: 120,427,643 (GRCm39) probably null Het
Gm10295 T C 7: 71,000,250 (GRCm39) K110R unknown Het
Ifrd1 A G 12: 40,267,375 (GRCm39) probably null Het
Inpp5f A G 7: 128,296,624 (GRCm39) T365A probably benign Het
Kcnn3 A G 3: 89,559,383 (GRCm39) K551R probably benign Het
Lama2 A T 10: 26,917,216 (GRCm39) N2236K probably damaging Het
Larp7 A T 3: 127,337,844 (GRCm39) I405N possibly damaging Het
Meltf C A 16: 31,709,596 (GRCm39) Y432* probably null Het
Mst1r C A 9: 107,790,352 (GRCm39) T655K possibly damaging Het
Myh1 C T 11: 67,093,308 (GRCm39) P133L probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or52r1c A T 7: 102,735,405 (GRCm39) M222L probably benign Het
Or5b102 A T 19: 13,041,552 (GRCm39) Q259L probably benign Het
Or6a2 A G 7: 106,600,561 (GRCm39) S169P possibly damaging Het
Pfkl A T 10: 77,835,967 (GRCm39) probably null Het
Plekhb2 T C 1: 34,916,073 (GRCm39) M204T probably damaging Het
Ptp4a2 G A 4: 129,738,986 (GRCm39) probably null Het
Rtp4 A G 16: 23,431,704 (GRCm39) T79A probably benign Het
Senp3 T C 11: 69,568,815 (GRCm39) D410G probably benign Het
Slc16a5 T C 11: 115,360,176 (GRCm39) F120L possibly damaging Het
Sorcs1 T C 19: 50,463,875 (GRCm39) T192A probably damaging Het
Spef2 T A 15: 9,668,960 (GRCm39) H742L possibly damaging Het
Syt12 T C 19: 4,497,858 (GRCm39) S375G probably benign Het
Tas2r117 T C 6: 132,780,657 (GRCm39) L265P probably benign Het
Tcp10a T A 17: 7,597,318 (GRCm39) D158E probably damaging Het
Tesk2 A T 4: 116,629,017 (GRCm39) H122L probably damaging Het
Tut7 T G 13: 59,959,335 (GRCm39) N378H probably damaging Het
Unc93b1 T A 19: 3,998,686 (GRCm39) M535K probably damaging Het
Vangl1 C A 3: 102,091,347 (GRCm39) R246S probably damaging Het
Xpo5 C T 17: 46,519,059 (GRCm39) T166I probably damaging Het
Zmiz2 T C 11: 6,349,500 (GRCm39) probably benign Het
Other mutations in Snrpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Snrpe APN 1 133,537,487 (GRCm39) intron probably benign
IGL02565:Snrpe APN 1 133,536,704 (GRCm39) splice site probably benign
R5273:Snrpe UTSW 1 133,537,518 (GRCm39) intron probably benign
R5534:Snrpe UTSW 1 133,534,211 (GRCm39) missense probably benign 0.02
R5849:Snrpe UTSW 1 133,536,652 (GRCm39) missense probably benign 0.01
R8338:Snrpe UTSW 1 133,536,681 (GRCm39) missense probably benign 0.28
R8920:Snrpe UTSW 1 133,534,199 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18