Incidental Mutation 'R6739:Snrnp70'
ID 530353
Institutional Source Beutler Lab
Gene Symbol Snrnp70
Ensembl Gene ENSMUSG00000063511
Gene Name small nuclear ribonucleoprotein 70 (U1)
Synonyms Rnulp70, Snrp70, Srnp70, U1-70, 3200002N22Rik, 2700022N21Rik
MMRRC Submission 044857-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R6739 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45025877-45045166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45036843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 100 (D100E)
Ref Sequence ENSEMBL: ENSMUSP00000147400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074575] [ENSMUST00000209858] [ENSMUST00000211121] [ENSMUST00000211378] [ENSMUST00000210514] [ENSMUST00000211211]
AlphaFold Q62376
Predicted Effect probably damaging
Transcript: ENSMUST00000074575
AA Change: D100E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: D100E

DomainStartEndE-ValueType
Pfam:U1snRNP70_N 2 94 4e-31 PFAM
RRM 104 177 1.62e-23 SMART
low complexity region 186 203 N/A INTRINSIC
coiled coil region 286 309 N/A INTRINSIC
low complexity region 331 409 N/A INTRINSIC
PDB:3PGW|L 410 448 4e-14 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209237
Predicted Effect probably damaging
Transcript: ENSMUST00000209858
AA Change: D100E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000209993
AA Change: D49E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210495
Predicted Effect probably damaging
Transcript: ENSMUST00000211121
AA Change: D100E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000211378
AA Change: M102K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211178
Predicted Effect probably benign
Transcript: ENSMUST00000210514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211290
Predicted Effect probably benign
Transcript: ENSMUST00000211211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210808
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (33/34)
MGI Phenotype FUNCTION: This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,658 (GRCm39) V14A probably benign Het
Ank2 A T 3: 126,873,643 (GRCm39) N59K probably damaging Het
Ano4 T C 10: 88,863,114 (GRCm39) Y286C probably damaging Het
Arhgap21 G A 2: 20,885,543 (GRCm39) H545Y possibly damaging Het
Arid1a T A 4: 133,414,937 (GRCm39) S1152C unknown Het
Cfap73 T C 5: 120,768,258 (GRCm39) T167A probably benign Het
Ctbs A T 3: 146,165,254 (GRCm39) probably null Het
Dmgdh T A 13: 93,857,123 (GRCm39) N742K probably benign Het
Dmxl1 T C 18: 50,011,313 (GRCm39) S1157P probably benign Het
Dnm3 T C 1: 162,305,352 (GRCm39) N14S probably damaging Het
Dpp4 C T 2: 62,217,439 (GRCm39) V53I probably benign Het
Etl4 A G 2: 20,718,246 (GRCm39) N329S probably damaging Het
Fbxw25 A G 9: 109,480,699 (GRCm39) V327A probably benign Het
Gsg1 T A 6: 135,214,612 (GRCm39) Q299L probably damaging Het
Igsf23 A G 7: 19,678,673 (GRCm39) L39P probably damaging Het
Il17rd A G 14: 26,821,488 (GRCm39) R261G possibly damaging Het
Krt75 C T 15: 101,479,503 (GRCm39) D276N probably benign Het
Lox T C 18: 52,660,031 (GRCm39) T268A possibly damaging Het
Mroh4 T C 15: 74,481,568 (GRCm39) S825G probably benign Het
Nlrp9c T C 7: 26,084,850 (GRCm39) D243G probably damaging Het
Or10a5 T C 7: 106,636,018 (GRCm39) Y219H probably damaging Het
Or1x6 T A 11: 50,939,564 (GRCm39) V210E probably damaging Het
Picalm C A 7: 89,825,916 (GRCm39) T131N probably damaging Het
Pitpnm1 T A 19: 4,160,522 (GRCm39) L781H probably damaging Het
Proz A T 8: 13,123,451 (GRCm39) I241F possibly damaging Het
Rb1cc1 A G 1: 6,304,454 (GRCm39) D67G probably damaging Het
Rnf213 T A 11: 119,333,097 (GRCm39) C2769S probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn8a T C 15: 100,913,836 (GRCm39) I1076T possibly damaging Het
Triobp T A 15: 78,850,566 (GRCm39) L240Q possibly damaging Het
Vmn2r5 A G 3: 64,398,637 (GRCm39) S781P probably damaging Het
Zfp451 A G 1: 33,842,675 (GRCm39) probably benign Het
Zfta C T 19: 7,398,712 (GRCm39) R243* probably null Het
Other mutations in Snrnp70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Snrnp70 APN 7 45,026,778 (GRCm39) critical splice donor site probably null
IGL01092:Snrnp70 APN 7 45,026,801 (GRCm39) missense probably damaging 0.98
IGL01444:Snrnp70 APN 7 45,036,660 (GRCm39) splice site probably null
IGL03110:Snrnp70 APN 7 45,026,283 (GRCm39) intron probably benign
R0691:Snrnp70 UTSW 7 45,036,669 (GRCm39) missense possibly damaging 0.60
R1371:Snrnp70 UTSW 7 45,030,129 (GRCm39) unclassified probably benign
R1854:Snrnp70 UTSW 7 45,026,644 (GRCm39) nonsense probably null
R1880:Snrnp70 UTSW 7 45,026,786 (GRCm39) splice site probably null
R2050:Snrnp70 UTSW 7 45,036,724 (GRCm39) nonsense probably null
R4928:Snrnp70 UTSW 7 45,026,705 (GRCm39) splice site probably null
R5195:Snrnp70 UTSW 7 45,044,134 (GRCm39) missense probably damaging 1.00
R5314:Snrnp70 UTSW 7 45,026,476 (GRCm39) nonsense probably null
R5326:Snrnp70 UTSW 7 45,026,657 (GRCm39) intron probably benign
R5522:Snrnp70 UTSW 7 45,026,601 (GRCm39) intron probably benign
R6182:Snrnp70 UTSW 7 45,026,497 (GRCm39) nonsense probably null
R7607:Snrnp70 UTSW 7 45,041,688 (GRCm39) missense possibly damaging 0.82
R7789:Snrnp70 UTSW 7 45,026,045 (GRCm39) nonsense probably null
R7840:Snrnp70 UTSW 7 45,026,214 (GRCm39) missense unknown
R9519:Snrnp70 UTSW 7 45,036,875 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- TCAACTCTCCAGCTGGACAC -3'
(R):5'- GTGAAACCAGACCTGAAACATG -3'

Sequencing Primer
(F):5'- GACACACTTACTCTTTTGATGGG -3'
(R):5'- GTACTCACGCTTACTAAGTCACTGAG -3'
Posted On 2018-08-01