Incidental Mutation 'IGL02028:Snrnp27'
ID 184280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrnp27
Ensembl Gene ENSMUSG00000001158
Gene Name small nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms 2610209M04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 6
Chromosomal Location 86652151-86661473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86659955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 13 (R13H)
Ref Sequence ENSEMBL: ENSMUSP00000109313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]
AlphaFold Q8K194
Predicted Effect unknown
Transcript: ENSMUST00000001186
AA Change: R13H
SMART Domains Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
AA Change: R13H

DomainStartEndE-ValueType
Pfam:DUF1777 1 151 1.8e-39 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113683
AA Change: R13H
SMART Domains Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: R13H

DomainStartEndE-ValueType
Pfam:DUF1777 1 139 1.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204153
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Snrnp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03198:Snrnp27 APN 6 86,659,968 (GRCm39) splice site probably null
PIT4131001:Snrnp27 UTSW 6 86,659,893 (GRCm39) missense unknown
R0136:Snrnp27 UTSW 6 86,653,187 (GRCm39) missense probably benign 0.07
R0242:Snrnp27 UTSW 6 86,652,575 (GRCm39) unclassified probably benign
R0375:Snrnp27 UTSW 6 86,657,935 (GRCm39) missense possibly damaging 0.83
R2164:Snrnp27 UTSW 6 86,653,196 (GRCm39) missense probably benign 0.03
R5245:Snrnp27 UTSW 6 86,659,941 (GRCm39) missense unknown
R6042:Snrnp27 UTSW 6 86,659,902 (GRCm39) missense unknown
R7667:Snrnp27 UTSW 6 86,657,935 (GRCm39) missense possibly damaging 0.83
R8812:Snrnp27 UTSW 6 86,653,196 (GRCm39) missense probably benign 0.03
R8946:Snrnp27 UTSW 6 86,653,226 (GRCm39) missense probably damaging 1.00
R9330:Snrnp27 UTSW 6 86,653,184 (GRCm39) missense probably benign 0.03
R9413:Snrnp27 UTSW 6 86,653,255 (GRCm39) missense possibly damaging 0.89
Posted On 2014-05-07