Incidental Mutation 'IGL03282:Snrnp35'
ID 415624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrnp35
Ensembl Gene ENSMUSG00000029402
Gene Name small nuclear ribonucleoprotein 35 (U11/U12)
Synonyms 6330548G22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03282
Quality Score
Status
Chromosome 5
Chromosomal Location 124621197-124629187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124628372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 62 (T62A)
Ref Sequence ENSEMBL: ENSMUSP00000107080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031349] [ENSMUST00000062153] [ENSMUST00000111453] [ENSMUST00000136567] [ENSMUST00000199125] [ENSMUST00000199766]
AlphaFold Q9D384
Predicted Effect probably damaging
Transcript: ENSMUST00000031349
AA Change: T62A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031349
Gene: ENSMUSG00000029402
AA Change: T62A

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 probably damaging
Transcript: ENSMUST00000111453
AA Change: T62A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107080
Gene: ENSMUSG00000029402
AA Change: T62A

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 damaging
Transcript: ENSMUST00000136567
AA Change: T62A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121120
Gene: ENSMUSG00000029402
AA Change: T62A

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
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl1 A G 12: 70,001,238 (GRCm39) I333M possibly damaging Het
Atxn2 A G 5: 121,923,298 (GRCm39) T52A probably benign Het
Atxn7 T A 14: 14,100,564 (GRCm38) L750H probably damaging Het
Cadps T C 14: 12,465,856 (GRCm38) probably benign Het
Cts6 T A 13: 61,344,261 (GRCm39) I264F possibly damaging Het
Dnah6 G T 6: 73,030,630 (GRCm39) probably benign Het
Epg5 A G 18: 78,029,641 (GRCm39) S1335G probably benign Het
Gm10073 A T 8: 107,299,972 (GRCm39) V4D probably benign Het
Gpld1 T A 13: 25,155,391 (GRCm39) M342K probably benign Het
Herc1 T A 9: 66,358,741 (GRCm39) F2607L probably benign Het
Ighv2-9-1 T C 12: 113,733,485 (GRCm39) Y112C probably damaging Het
Itga4 A T 2: 79,155,938 (GRCm39) H968L probably damaging Het
Me1 C T 9: 86,495,649 (GRCm39) R286Q probably damaging Het
Med1 G A 11: 98,047,643 (GRCm39) T1051M probably damaging Het
Msh2 T G 17: 87,996,430 (GRCm39) D379E probably benign Het
Mup4 T A 4: 59,958,547 (GRCm39) M118L possibly damaging Het
Ostm1 A T 10: 42,574,227 (GRCm39) S152C probably damaging Het
Pla2g1b A G 5: 115,608,939 (GRCm39) N45D probably damaging Het
Rab21 A G 10: 115,134,803 (GRCm39) probably benign Het
Rapgef4 G A 2: 72,036,096 (GRCm39) probably benign Het
Slc38a8 G T 8: 120,226,455 (GRCm39) N111K probably damaging Het
Strn3 T C 12: 51,673,992 (GRCm39) I540V probably benign Het
Tgm1 A G 14: 55,948,527 (GRCm39) V208A probably damaging Het
Vmn1r62 A T 7: 5,678,547 (GRCm39) D76V possibly damaging Het
Vmn1r90 T A 7: 14,295,426 (GRCm39) H224L probably benign Het
Vmn1r90 A T 7: 14,296,093 (GRCm39) S2T possibly damaging Het
Other mutations in Snrnp35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Snrnp35 APN 5 124,628,471 (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
R7966:Snrnp35 UTSW 5 124,628,565 (GRCm39) missense possibly damaging 0.92
R9353:Snrnp35 UTSW 5 124,628,559 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02