Incidental Mutation 'R7789:Snrnp70'
ID 599736
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 045845-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45025877-45045166 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45026045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 441 (Y441*)
Ref Sequence ENSEMBL: ENSMUSP00000074160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074575] [ENSMUST00000210514] [ENSMUST00000211211]
AlphaFold Q62376
Predicted Effect probably null
Transcript: ENSMUST00000074575
AA Change: Y441*
SMART Domains Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: Y441*

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 probably benign
Transcript: ENSMUST00000209993
Predicted Effect probably benign
Transcript: ENSMUST00000210514
Predicted Effect probably benign
Transcript: ENSMUST00000211211
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (77/78)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,175 (GRCm39) E163K probably benign Het
Adam34 T A 8: 44,105,488 (GRCm39) R52S probably benign Het
Adcy8 A T 15: 64,743,623 (GRCm39) C328* probably null Het
Ankrd26 G T 6: 118,504,760 (GRCm39) S716R possibly damaging Het
Ankrd26 G T 6: 118,504,759 (GRCm39) H717N probably damaging Het
Ankrd40 C A 11: 94,225,535 (GRCm39) P189T probably damaging Het
Anln A G 9: 22,263,333 (GRCm39) S113P Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Asxl1 C T 2: 153,241,943 (GRCm39) T832I probably benign Het
Bicd2 C T 13: 49,533,135 (GRCm39) R574C probably damaging Het
Boll T C 1: 55,399,826 (GRCm39) probably null Het
Casr A G 16: 36,315,653 (GRCm39) F806L probably damaging Het
Casz1 C A 4: 149,013,863 (GRCm39) N142K probably benign Het
Cbl C T 9: 44,074,764 (GRCm39) D433N probably damaging Het
Ceacam14 T A 7: 17,548,096 (GRCm39) V62D probably damaging Het
Chst10 T C 1: 38,923,532 (GRCm39) N18S probably benign Het
Cyp2j6 C T 4: 96,433,953 (GRCm39) R119H probably benign Het
Cyp4a14 C G 4: 115,352,107 (GRCm39) V102L probably benign Het
Dnajb3 A T 1: 88,133,399 (GRCm39) M1K probably null Het
Dnajc6 A T 4: 101,475,729 (GRCm39) K534M possibly damaging Het
Dnase2a T C 8: 85,635,505 (GRCm39) probably null Het
Dock10 A G 1: 80,536,930 (GRCm39) I985T possibly damaging Het
Emsy G T 7: 98,270,696 (GRCm39) P436Q probably damaging Het
Enpp1 A T 10: 24,529,981 (GRCm39) probably null Het
Erc1 T A 6: 119,750,670 (GRCm39) R353* probably null Het
Fbn2 T A 18: 58,172,385 (GRCm39) D2140V probably benign Het
Fgfr1 T A 8: 26,052,329 (GRCm39) Y218* probably null Het
Fhod1 C T 8: 106,056,740 (GRCm39) R1045H probably damaging Het
Focad G T 4: 88,147,643 (GRCm39) L427F unknown Het
Gbf1 T A 19: 46,242,441 (GRCm39) L144M probably damaging Het
Glmn T G 5: 107,696,941 (GRCm39) N592T probably benign Het
Golgb1 C G 16: 36,695,761 (GRCm39) P87A unknown Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Insyn2b T A 11: 34,352,537 (GRCm39) M193K probably benign Het
Itga9 T G 9: 118,487,564 (GRCm39) F216V possibly damaging Het
Klhl18 T C 9: 110,268,076 (GRCm39) D149G unknown Het
Lcat C T 8: 106,668,857 (GRCm39) V114M probably benign Het
Lrrc8c C A 5: 105,755,066 (GRCm39) N280K probably damaging Het
Mettl8 T C 2: 70,796,806 (GRCm39) Y283C probably damaging Het
Mgat4a A T 1: 37,529,360 (GRCm39) I173K probably damaging Het
Mmp1a T C 9: 7,475,266 (GRCm39) V345A possibly damaging Het
Mok T A 12: 110,778,261 (GRCm39) H215L probably damaging Het
Mphosph9 C G 5: 124,453,650 (GRCm39) E221Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myom1 A G 17: 71,424,431 (GRCm39) T1525A probably benign Het
Nap1l1 C T 10: 111,326,317 (GRCm39) S143L probably benign Het
Or1af1 C T 2: 37,109,672 (GRCm39) T57I probably benign Het
Or2j6 A T 7: 139,980,610 (GRCm39) Y116* probably null Het
Or52d1 T A 7: 103,756,195 (GRCm39) S236R probably damaging Het
Or7g29 G T 9: 19,286,361 (GRCm39) T272K probably benign Het
Plbd2 T C 5: 120,623,819 (GRCm39) S568G probably damaging Het
Plxna4 T A 6: 32,183,168 (GRCm39) probably null Het
Plxnc1 T A 10: 94,630,339 (GRCm39) E1520V probably damaging Het
Ppil3 G A 1: 58,473,538 (GRCm39) T104I possibly damaging Het
Ptprm A T 17: 67,402,534 (GRCm39) V118E probably damaging Het
Rimbp2 T C 5: 128,851,399 (GRCm39) D849G probably damaging Het
Rnf213 T C 11: 119,361,045 (GRCm39) probably null Het
Sema3f T A 9: 107,582,631 (GRCm39) K37N probably benign Het
Sh3glb1 G T 3: 144,397,892 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,922,637 (GRCm39) D571G probably benign Het
Sipa1l3 T C 7: 29,077,150 (GRCm39) Y874C probably damaging Het
Smchd1 G A 17: 71,782,296 (GRCm39) probably benign Het
Ssrp1 C T 2: 84,871,525 (GRCm39) R316W probably damaging Het
Syt10 A T 15: 89,711,101 (GRCm39) V144E probably damaging Het
Tdrd12 A G 7: 35,188,117 (GRCm39) L562P Het
Trim68 T C 7: 102,333,676 (GRCm39) D2G possibly damaging Het
Trub2 T A 2: 29,667,920 (GRCm39) H240L probably damaging Het
Tssc4 A G 7: 142,623,515 (GRCm39) probably null Het
Usp7 T A 16: 8,516,675 (GRCm39) Q539L probably benign Het
Vmn2r17 T A 5: 109,600,831 (GRCm39) C710S possibly damaging Het
Vmn2r99 G T 17: 19,614,079 (GRCm39) V600F possibly damaging Het
Vps13d C T 4: 144,826,635 (GRCm39) V2879M Het
Vrtn T A 12: 84,697,080 (GRCm39) M610K probably benign Het
Xpo4 T C 14: 57,850,806 (GRCm39) E366G probably benign Het
Zyg11a G A 4: 108,040,845 (GRCm39) P703S probably damaging 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
R6739:Snrnp70 UTSW 7 45,036,843 (GRCm39) missense probably damaging 1.00
R7607:Snrnp70 UTSW 7 45,041,688 (GRCm39) missense possibly damaging 0.82
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'- TGCAGTAAGACATCACATGCCC -3'
(R):5'- TGAAGCTGGTGATGGAGCTC -3'

Sequencing Primer
(F):5'- GTAAGACATCACATGCCCACTATC -3'
(R):5'- TCCTGATGATGGGCCTCCTG -3'
Posted On 2019-11-26