Incidental Mutation 'IGL02086:Snrpe'
ID285493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpe
Ensembl Gene ENSMUSG00000090553
Gene Namesmall nuclear ribonucleoprotein E
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL02086
Quality Score
Status
Chromosome1
Chromosomal Location133603871-133610291 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 133609749 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164096] [ENSMUST00000164574] [ENSMUST00000166291] [ENSMUST00000166915] [ENSMUST00000171264] [ENSMUST00000172079]
Predicted Effect probably benign
Transcript: ENSMUST00000164096
SMART Domains Protein: ENSMUSP00000127164
Gene: ENSMUSG00000090553

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

DomainStartEndE-ValueType
low complexity region 35 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166291
SMART Domains Protein: ENSMUSP00000132376
Gene: ENSMUSG00000090553

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
SMART Domains Protein: ENSMUSP00000128400
Gene: ENSMUSG00000090553

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 silent
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 18,998,812 probably benign Het
Abi3bp A G 16: 56,642,567 probably benign Het
Asb4 T C 6: 5,398,386 I117T probably benign Het
BC005561 A G 5: 104,519,001 E463G possibly damaging Het
Birc6 T G 17: 74,639,827 L2847R probably damaging Het
C2cd2 A G 16: 97,890,008 probably benign Het
Ccdc77 C A 6: 120,339,158 C186F possibly damaging Het
Cd300ld2 T A 11: 115,012,558 probably benign Het
Cd55b A T 1: 130,418,182 D166E probably benign Het
Cfap100 A G 6: 90,413,972 F8L probably damaging Het
Col2a1 C T 15: 97,986,737 probably null Het
Dbf4 A G 5: 8,403,189 I270T probably benign Het
Dkk3 T C 7: 112,149,029 S123G probably benign Het
Ep400 A G 5: 110,676,943 probably benign Het
Fam184a A G 10: 53,699,255 I30T probably damaging Het
Fam20a T C 11: 109,673,413 I505V probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fcho1 T C 8: 71,716,800 E154G probably damaging Het
Klhdc1 A G 12: 69,283,184 I362M probably benign Het
Knl1 A T 2: 119,100,774 E1990D probably benign Het
Lancl2 A G 6: 57,734,039 Y394C probably damaging Het
Lgi2 G A 5: 52,565,957 S50F probably damaging Het
Map2k7 A G 8: 4,238,950 E14G probably damaging Het
Mga A G 2: 119,924,036 I1009V probably damaging Het
Nat9 C A 11: 115,183,408 probably null Het
Nek2 G A 1: 191,831,289 A422T probably benign Het
Nfkbiz A T 16: 55,815,671 L509Q probably damaging Het
Olfr661 A T 7: 104,688,427 R137S probably benign Het
Pgap1 T A 1: 54,547,988 Q143L probably damaging Het
Pkd1l3 C T 8: 109,665,585 T1937I probably damaging Het
Pou1f1 A G 16: 65,529,898 E128G probably damaging Het
Ppfia3 T C 7: 45,340,572 probably benign Het
Prkd1 T C 12: 50,387,263 I566V probably benign Het
Psd2 A G 18: 36,005,906 R528G probably damaging Het
Ptprg G T 14: 12,110,080 E263* probably null Het
Radil T C 5: 142,543,821 D40G probably benign Het
Ryr2 T A 13: 11,735,556 Y1943F probably damaging Het
Slc30a4 C T 2: 122,702,027 probably benign Het
Slc31a1 A T 4: 62,388,004 T120S possibly damaging Het
Stx3 G T 19: 11,818,682 probably benign Het
Ufsp1 T A 5: 137,294,916 C43S probably damaging Het
Vac14 T A 8: 110,653,318 M416K possibly damaging Het
Vmn1r81 A C 7: 12,259,865 V272G possibly damaging Het
Vmn2r107 T A 17: 20,357,800 I457K probably benign Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Vmn2r9 T C 5: 108,847,567 Y405C probably damaging Het
Zcchc17 T C 4: 130,316,647 *242W probably null Het
Zfp503 T C 14: 21,987,286 K83R possibly damaging Het
Other mutations in Snrpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Snrpe APN 1 133608966 splice site probably benign
IGL02942:Snrpe APN 1 133608931 missense probably damaging 0.99
R5273:Snrpe UTSW 1 133609780 intron probably benign
R5534:Snrpe UTSW 1 133606473 missense probably benign 0.02
R5849:Snrpe UTSW 1 133608914 missense probably benign 0.01
R8338:Snrpe UTSW 1 133608943 missense probably benign 0.28
Posted On2015-04-16