Incidental Mutation 'R7966:Snrnp35'
ID 650361
Institutional Source Beutler Lab
Gene Symbol Snrnp35
Ensembl Gene ENSMUSG00000029402
Gene Name small nuclear ribonucleoprotein 35 (U11/U12)
Synonyms 6330548G22Rik
MMRRC Submission 046009-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R7966 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124621197-124629187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124628565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
Ref Sequence ENSEMBL: ENSMUSP00000031349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031349] [ENSMUST00000062153] [ENSMUST00000111453] [ENSMUST00000136567] [ENSMUST00000199125] [ENSMUST00000199766]
AlphaFold Q9D384
Predicted Effect possibly damaging
Transcript: ENSMUST00000031349
AA Change: Y126C

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031349
Gene: ENSMUSG00000029402
AA Change: Y126C

DomainStartEndE-ValueType
RRM 52 125 7.24e-21 SMART
low complexity region 132 146 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
low complexity region 224 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062153
SMART Domains Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 27 175 2.3e-47 PFAM
Pfam:RILP 298 351 4e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111453
AA Change: Y126C

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107080
Gene: ENSMUSG00000029402
AA Change: Y126C

DomainStartEndE-ValueType
RRM 52 125 7.24e-21 SMART
low complexity region 132 146 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
low complexity region 224 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136567
SMART Domains Protein: ENSMUSP00000121120
Gene: ENSMUSG00000029402

DomainStartEndE-ValueType
RRM 52 121 6.16e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199125
SMART Domains Protein: ENSMUSP00000142887
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
coiled coil region 21 65 N/A INTRINSIC
Pfam:RILP 105 164 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199766
SMART Domains Protein: ENSMUSP00000143250
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
Pfam:RILP 77 136 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200202
Meta Mutation Damage Score 0.4042 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,219,903 (GRCm39) I817L probably benign Het
Adcy8 A T 15: 64,573,939 (GRCm39) W1055R probably damaging Het
Anks4b A G 7: 119,781,923 (GRCm39) E318G probably benign Het
Arid3a A G 10: 79,767,889 (GRCm39) T229A probably benign Het
Cckar T C 5: 53,858,580 (GRCm39) K247E possibly damaging Het
Cfap52 A T 11: 67,844,571 (GRCm39) probably null Het
Ckap4 A G 10: 84,363,449 (GRCm39) V538A probably damaging Het
Cped1 T C 6: 22,059,953 (GRCm39) probably null Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyp4v3 G T 8: 45,785,954 (GRCm39) A21E probably benign Het
Cytip T C 2: 58,037,944 (GRCm39) E140G probably damaging Het
D130043K22Rik A C 13: 25,077,406 (GRCm39) Q1013P probably damaging Het
Dpp6 A G 5: 27,928,370 (GRCm39) M763V probably benign Het
Eps15 T A 4: 109,178,340 (GRCm39) Y193N probably damaging Het
Ghrhr T C 6: 55,356,083 (GRCm39) W59R probably damaging Het
Hdac4 A G 1: 91,861,402 (GRCm39) V1056A possibly damaging Het
Ipcef1 T C 10: 6,850,668 (GRCm39) T312A probably damaging Het
Itpr3 T C 17: 27,331,002 (GRCm39) probably null Het
Kif6 A G 17: 49,993,453 (GRCm39) I182V probably damaging Het
Lcn3 A G 2: 25,656,389 (GRCm39) K90E probably damaging Het
Lig3 T C 11: 82,681,342 (GRCm39) S446P probably damaging Het
Ncln G A 10: 81,326,103 (GRCm39) Q283* probably null Het
Nlrp4c A G 7: 6,069,322 (GRCm39) T408A probably damaging Het
Oas1h T C 5: 121,009,962 (GRCm39) F346L probably damaging Het
Olig2 AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC 16: 91,023,962 (GRCm39) probably benign Het
Or2ad1 A T 13: 21,326,356 (GRCm39) Y290* probably null Het
Or52b4 T C 7: 102,184,623 (GRCm39) I223T probably damaging Het
Or52s1b A T 7: 102,822,062 (GRCm39) F261I probably damaging Het
Or8b55 A G 9: 38,727,536 (GRCm39) I246V probably benign Het
Pdcd1 A T 1: 93,969,186 (GRCm39) V44E probably damaging Het
Prdm13 A T 4: 21,679,932 (GRCm39) I186N unknown Het
Prpf4b A G 13: 35,085,428 (GRCm39) D958G probably damaging Het
Prss59 A T 6: 40,903,022 (GRCm39) Y117N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Robo1 T A 16: 72,780,760 (GRCm39) I830N possibly damaging Het
Scaper A G 9: 55,669,611 (GRCm39) V355A probably damaging Het
Scn3b C T 9: 40,193,846 (GRCm39) A191V probably benign Het
Slc13a3 G C 2: 165,272,155 (GRCm39) S296C probably benign Het
Slc6a16 T A 7: 44,917,477 (GRCm39) I445N possibly damaging Het
Spock2 A G 10: 59,957,554 (GRCm39) H98R possibly damaging Het
Sptssb A T 3: 69,728,286 (GRCm39) Y50* probably null Het
Syne1 A G 10: 5,066,965 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tecta A G 9: 42,306,258 (GRCm39) F57L probably damaging Het
Tgs1 C A 4: 3,586,215 (GRCm39) P364H probably benign Het
Tmem242 A G 17: 5,461,711 (GRCm39) I119T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn2r3 T A 3: 64,186,235 (GRCm39) N150I probably damaging Het
Vmn2r69 A G 7: 85,060,762 (GRCm39) I274T possibly damaging Het
Vwf T A 6: 125,616,304 (GRCm39) L1206* probably null Het
Zfp157 T A 5: 138,445,833 (GRCm39) W63R probably benign Het
Zfp455 T C 13: 67,347,302 (GRCm39) Y10H probably benign Het
Zfp654 T C 16: 64,605,239 (GRCm39) T447A probably damaging Het
Zhx2 T C 15: 57,685,063 (GRCm39) I144T probably damaging Het
Other mutations in Snrnp35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Snrnp35 APN 5 124,628,471 (GRCm39) missense probably damaging 1.00
IGL03282:Snrnp35 APN 5 124,628,372 (GRCm39) missense probably damaging 1.00
R0180:Snrnp35 UTSW 5 124,628,883 (GRCm39) unclassified probably benign
R3790:Snrnp35 UTSW 5 124,628,248 (GRCm39) missense probably damaging 1.00
R5307:Snrnp35 UTSW 5 124,628,553 (GRCm39) missense possibly damaging 0.58
R5369:Snrnp35 UTSW 5 124,628,262 (GRCm39) missense probably benign 0.06
R5654:Snrnp35 UTSW 5 124,628,535 (GRCm39) missense probably benign 0.04
R6931:Snrnp35 UTSW 5 124,628,764 (GRCm39) missense possibly damaging 0.94
R9353:Snrnp35 UTSW 5 124,628,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAACTTGCAGACCAAAGAG -3'
(R):5'- TCCCTAGATCGAGATCGCTC -3'

Sequencing Primer
(F):5'- AAGTTAAAGGAAGTCTTCTCCCGG -3'
(R):5'- AGATCGAGATCGCTCCCTCC -3'
Posted On 2020-09-15