Incidental Mutation 'R6042:Snrnp27'
ID 483608
Institutional Source Beutler Lab
Gene Symbol Snrnp27
Ensembl Gene ENSMUSG00000001158
Gene Name small nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms 2610209M04Rik
MMRRC Submission 044210-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6042 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86652151-86661473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86659902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 31 (S31A)
Ref Sequence ENSEMBL: ENSMUSP00000109313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]
AlphaFold Q8K194
Predicted Effect unknown
Transcript: ENSMUST00000001186
AA Change: S31A
SMART Domains Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
AA Change: S31A

DomainStartEndE-ValueType
Pfam:DUF1777 1 151 1.8e-39 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113683
AA Change: S31A
SMART Domains Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: S31A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,224,023 (GRCm39) K478M probably benign Het
Ankar G T 1: 72,713,213 (GRCm39) S474* probably null Het
Barx2 C A 9: 31,758,199 (GRCm39) E246D probably benign Het
Cdh20 A T 1: 110,065,997 (GRCm39) Q757L probably damaging Het
Cnr1 T C 4: 33,944,751 (GRCm39) F380L probably damaging Het
Cntnap5b G A 1: 100,318,317 (GRCm39) A655T probably benign Het
Col2a1 T A 15: 97,898,451 (GRCm39) probably benign Het
Crybg3 C T 16: 59,370,838 (GRCm39) R2340Q possibly damaging Het
Ctsb G T 14: 63,379,305 (GRCm39) D306Y probably damaging Het
Cyp2a22 A C 7: 26,633,664 (GRCm39) Y349D probably damaging Het
Dcpp2 T C 17: 24,117,886 (GRCm39) L22S probably damaging Het
Dnah8 G T 17: 30,966,239 (GRCm39) M2476I probably damaging Het
Dst A G 1: 34,228,053 (GRCm39) E1882G probably damaging Het
Esrp1 T C 4: 11,357,580 (GRCm39) K511E possibly damaging Het
Fat3 T A 9: 16,289,113 (GRCm39) T137S probably benign Het
Fbxw24 T A 9: 109,436,079 (GRCm39) M318L probably benign Het
Fpr-rs7 T A 17: 20,333,477 (GRCm39) T338S probably benign Het
Gcgr T C 11: 120,425,584 (GRCm39) M1T probably null Het
Grifin C A 5: 140,549,311 (GRCm39) R135L possibly damaging Het
Helz T C 11: 107,504,946 (GRCm39) probably null Het
Hivep3 C G 4: 119,955,061 (GRCm39) Q1126E possibly damaging Het
Htr3a T A 9: 48,815,999 (GRCm39) H146L probably damaging Het
Lama3 T A 18: 12,707,311 (GRCm39) V3081E probably damaging Het
Mgat5 T A 1: 127,387,636 (GRCm39) C531S probably damaging Het
Mical2 A G 7: 111,979,619 (GRCm39) D106G probably benign Het
Nectin2 C T 7: 19,472,063 (GRCm39) A109T probably benign Het
Olig3 T C 10: 19,232,503 (GRCm39) S43P probably damaging Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Or8b39 T A 9: 37,996,390 (GRCm39) V86E probably damaging Het
Pcdh12 T C 18: 38,414,558 (GRCm39) R856G probably damaging Het
Phpt1 T A 2: 25,464,851 (GRCm39) M1L probably benign Het
Polr2m T C 9: 71,391,080 (GRCm39) I41V probably damaging Het
Pramel28 G T 4: 143,692,631 (GRCm39) D123E probably benign Het
Pzp A G 6: 128,500,977 (GRCm39) V127A possibly damaging Het
Rgs7 G T 1: 174,977,226 (GRCm39) T126K probably damaging Het
RP23-399J5.1 T C 8: 71,542,571 (GRCm39) noncoding transcript Het
Rras A T 7: 44,669,820 (GRCm39) D112V probably damaging Het
Sdcbp2 T A 2: 151,424,646 (GRCm39) Y5* probably null Het
Slc43a2 T C 11: 75,461,433 (GRCm39) F462L probably damaging Het
Smchd1 T A 17: 71,684,052 (GRCm39) K1436* probably null Het
Sqstm1 A C 11: 50,098,251 (GRCm39) F172V probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Syt10 G A 15: 89,725,824 (GRCm39) T50I probably benign Het
Syt16 T C 12: 74,313,504 (GRCm39) Y477H probably damaging Het
Tacr3 A T 3: 134,638,153 (GRCm39) T437S probably benign Het
Tg G A 15: 66,555,842 (GRCm39) D845N probably benign Het
Uqcc1 G T 2: 155,763,564 (GRCm39) S36R possibly damaging Het
Vmn1r20 T C 6: 57,409,391 (GRCm39) V239A possibly damaging Het
Xpo7 T A 14: 70,933,103 (GRCm39) Q263L possibly damaging Het
Zfp442 T C 2: 150,250,016 (GRCm39) K572E probably damaging Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign Het
Other mutations in Snrnp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Snrnp27 APN 6 86,659,955 (GRCm39) missense unknown
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
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
Predicted Primers PCR Primer
(F):5'- AAAGTCAAGGGCATCTCCTG -3'
(R):5'- TAGTGCCTCACAGATGCATGG -3'

Sequencing Primer
(F):5'- AAGGGCATCTCCTGGGCTC -3'
(R):5'- GGCTGGCCTTGAATTCAGAAATCC -3'
Posted On 2017-07-14