Incidental Mutation 'IGL02565:Snrpe'
ID 298809
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 # IGL02565
Quality Score
Status
Chromosome 1
Chromosomal Location 133531609-133538018 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 133536704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164096] [ENSMUST00000164574] [ENSMUST00000166291] [ENSMUST00000166915] [ENSMUST00000171264] [ENSMUST00000172079]
AlphaFold P62305
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 probably benign
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,677 (GRCm39) S205R probably benign Het
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Brinp3 T A 1: 146,777,770 (GRCm39) V739E probably damaging Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Ctsb T G 14: 63,375,859 (GRCm39) C198G probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pgpep1 A G 8: 71,105,119 (GRCm39) I47T probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rbms1 A G 2: 60,590,123 (GRCm39) Y305H probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D possibly damaging Het
Other mutations in Snrpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Snrpe APN 1 133,537,487 (GRCm39) intron probably benign
IGL02942:Snrpe APN 1 133,536,669 (GRCm39) missense probably damaging 0.99
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 2015-04-16