Incidental Mutation 'R7667:Snrnp27'
ID591976
Institutional Source Beutler Lab
Gene Symbol Snrnp27
Ensembl Gene ENSMUSG00000001158
Gene Namesmall nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7667 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location86675151-86684522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86680953 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 101 (I101K)
Ref Sequence ENSEMBL: ENSMUSP00000109313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]
Predicted Effect probably damaging
Transcript: ENSMUST00000001186
AA Change: I101K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
AA Change: I101K

DomainStartEndE-ValueType
Pfam:DUF1777 1 151 1.8e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113683
AA Change: I101K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: I101K

DomainStartEndE-ValueType
Pfam:DUF1777 1 139 1.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133404
Meta Mutation Damage Score 0.4466 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A T 12: 21,333,952 probably null Het
Adgrf5 A C 17: 43,446,039 I675L probably benign Het
Arhgap24 T A 5: 102,878,457 M248K probably benign Het
Chl1 G A 6: 103,695,495 D566N possibly damaging Het
Cntn4 A T 6: 106,679,895 I908F possibly damaging Het
Cyld T C 8: 88,742,302 I752T probably benign Het
Cyp26a1 C A 19: 37,700,624 L336I possibly damaging Het
Dlg2 A G 7: 92,438,156 probably null Het
Dmkn G A 7: 30,777,609 G446D probably damaging Het
Dnajc25 T C 4: 59,020,356 Y260H probably damaging Het
Dnm3 C A 1: 162,011,830 R186L probably damaging Het
Dst C T 1: 34,179,035 H1519Y possibly damaging Het
Eif1ad A G 19: 5,368,215 H9R probably damaging Het
Epha3 A T 16: 63,566,600 I891N probably benign Het
Epx T C 11: 87,874,311 T187A probably damaging Het
Fbln2 T G 6: 91,233,667 Y198D probably damaging Het
Fhod3 A G 18: 25,001,944 I371V probably benign Het
Gm11639 C T 11: 104,751,911 T1120I possibly damaging Het
Gm4922 C T 10: 18,784,348 V209I probably damaging Het
Gucy1a2 G A 9: 3,759,580 G462D probably damaging Het
Gzmd T C 14: 56,131,252 T62A probably damaging Het
Hnrnpul1 A T 7: 25,754,421 L72Q probably damaging Het
Ifi211 A T 1: 173,899,454 W375R probably damaging Het
Il1rl2 C A 1: 40,365,253 H511Q probably damaging Het
Kcnn2 A T 18: 45,559,438 H27L possibly damaging Het
Kng2 A G 16: 22,988,232 Y406H probably damaging Het
Lama1 A G 17: 67,780,597 E1491G Het
Lmf1 T C 17: 25,654,608 probably null Het
Med24 T C 11: 98,713,164 N417S possibly damaging Het
Mfsd4b5 T C 10: 39,974,800 E60G probably benign Het
Myo7b A G 18: 31,961,905 V1879A probably benign Het
Myrfl T A 10: 116,839,353 N225I possibly damaging Het
Naaladl2 A C 3: 24,413,348 probably null Het
Ndrg1 C T 15: 66,948,394 D64N probably damaging Het
Olfr1057 A G 2: 86,375,181 I77T probably damaging Het
Olfr820 T C 10: 130,017,534 Y58H probably damaging Het
Rasa3 A C 8: 13,588,015 L343R probably benign Het
Ros1 T G 10: 52,163,971 K308T probably damaging Het
Rp1l1 A G 14: 64,029,803 Y946C probably benign Het
Rpl13a A T 7: 45,126,173 L156Q probably damaging Het
Samd9l A G 6: 3,375,975 F429L possibly damaging Het
Slc25a25 A G 2: 32,451,209 V39A probably benign Het
Sspo G A 6: 48,475,371 W2756* probably null Het
Sult6b2 T A 6: 142,786,359 N274I probably benign Het
Tbc1d14 G A 5: 36,495,038 R667W probably damaging Het
Tg T C 15: 66,715,163 S1597P probably damaging Het
Thy1 A G 9: 44,047,435 D158G probably damaging Het
Tns4 T C 11: 99,071,470 Y567C probably damaging Het
Vmn1r170 A G 7: 23,607,048 R292G probably damaging Het
Vmn2r120 C A 17: 57,536,657 R62S probably benign Het
Vmn2r88 T G 14: 51,417,989 C552G Het
Xpo4 T A 14: 57,589,959 I927F probably damaging Het
Zc3h7a A T 16: 11,139,026 C906* probably null Het
Zdhhc22 T C 12: 86,983,388 D262G probably benign Het
Zfc3h1 C T 10: 115,410,701 Q898* probably null Het
Zfp280d T A 9: 72,301,965 S126T probably damaging Het
Zfp652 G T 11: 95,749,718 E156D probably benign Het
Zfp74 T C 7: 29,935,183 R367G probably damaging Het
Other mutations in Snrnp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Snrnp27 APN 6 86682973 missense unknown
IGL03198:Snrnp27 APN 6 86682986 splice site probably null
PIT4131001:Snrnp27 UTSW 6 86682911 missense unknown
R0136:Snrnp27 UTSW 6 86676205 missense probably benign 0.07
R0242:Snrnp27 UTSW 6 86675593 unclassified probably benign
R0375:Snrnp27 UTSW 6 86680953 missense possibly damaging 0.83
R2164:Snrnp27 UTSW 6 86676214 missense probably benign 0.03
R5245:Snrnp27 UTSW 6 86682959 missense unknown
R6042:Snrnp27 UTSW 6 86682920 missense unknown
Predicted Primers PCR Primer
(F):5'- ATGTGTTGATACCCTCAAAGACTG -3'
(R):5'- CACTCTGGCATGTCAAACTGG -3'

Sequencing Primer
(F):5'- GTTGATACCCTCAAAGACTGTACAAC -3'
(R):5'- CTCTGGCATGTCAAACTGGATAGG -3'
Posted On2019-11-12