Incidental Mutation 'R7789:Snrnp70'
ID 599736
Institutional Source Beutler Lab
Gene Symbol Snrnp70
Ensembl Gene ENSMUSG00000063511
Gene Name small nuclear ribonucleoprotein 70 (U1)
Synonyms Srnp70, 2700022N21Rik, Rnulp70, Snrp70, U1-70, 3200002N22Rik
MMRRC Submission 045845-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45376453-45395742 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45376621 bp (GRCm38)
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*

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: 4,864,311 (GRCm38) E163K probably benign Het
Adam34 T A 8: 43,652,451 (GRCm38) R52S probably benign Het
Adcy8 A T 15: 64,871,774 (GRCm38) C328* probably null Het
Ankrd26 G T 6: 118,527,799 (GRCm38) S716R possibly damaging Het
Ankrd26 G T 6: 118,527,798 (GRCm38) H717N probably damaging Het
Ankrd40 C A 11: 94,334,709 (GRCm38) P189T probably damaging Het
Anln A G 9: 22,352,037 (GRCm38) S113P Het
Arid5b C T 10: 68,098,587 (GRCm38) G495E probably benign Het
Asxl1 C T 2: 153,400,023 (GRCm38) T832I probably benign Het
Bicd2 C T 13: 49,379,659 (GRCm38) R574C probably damaging Het
Boll T C 1: 55,360,667 (GRCm38) probably null Het
Casr A G 16: 36,495,291 (GRCm38) F806L probably damaging Het
Casz1 C A 4: 148,929,406 (GRCm38) N142K probably benign Het
Cbl C T 9: 44,163,467 (GRCm38) D433N probably damaging Het
Ceacam14 T A 7: 17,814,171 (GRCm38) V62D probably damaging Het
Chst10 T C 1: 38,884,451 (GRCm38) N18S probably benign Het
Cyp2j6 C T 4: 96,545,716 (GRCm38) R119H probably benign Het
Cyp4a14 C G 4: 115,494,910 (GRCm38) V102L probably benign Het
Dnajb3 A T 1: 88,205,677 (GRCm38) M1K probably null Het
Dnajc6 A T 4: 101,618,532 (GRCm38) K534M possibly damaging Het
Dnase2a T C 8: 84,908,876 (GRCm38) probably null Het
Dock10 A G 1: 80,559,213 (GRCm38) I985T possibly damaging Het
Emsy G T 7: 98,621,489 (GRCm38) P436Q probably damaging Het
Enpp1 A T 10: 24,654,083 (GRCm38) probably null Het
Erc1 T A 6: 119,773,709 (GRCm38) R353* probably null Het
Fam196b T A 11: 34,402,537 (GRCm38) M193K probably benign Het
Fbn2 T A 18: 58,039,313 (GRCm38) D2140V probably benign Het
Fgfr1 T A 8: 25,562,313 (GRCm38) Y218* probably null Het
Fhod1 C T 8: 105,330,108 (GRCm38) R1045H probably damaging Het
Focad G T 4: 88,229,406 (GRCm38) L427F unknown Het
Gbf1 T A 19: 46,254,002 (GRCm38) L144M probably damaging Het
Glmn T G 5: 107,549,075 (GRCm38) N592T probably benign Het
Golgb1 C G 16: 36,875,399 (GRCm38) P87A unknown Het
H2bfm G A X: 136,927,722 (GRCm38) R120K unknown Het
Itga9 T G 9: 118,658,496 (GRCm38) F216V possibly damaging Het
Klhl18 T C 9: 110,439,008 (GRCm38) D149G unknown Het
Lcat C T 8: 105,942,225 (GRCm38) V114M probably benign Het
Lrrc8c C A 5: 105,607,200 (GRCm38) N280K probably damaging Het
Mettl8 T C 2: 70,966,462 (GRCm38) Y283C probably damaging Het
Mgat4a A T 1: 37,490,279 (GRCm38) I173K probably damaging Het
Mmp1a T C 9: 7,475,265 (GRCm38) V345A possibly damaging Het
Mok T A 12: 110,811,827 (GRCm38) H215L probably damaging Het
Mphosph9 C G 5: 124,315,587 (GRCm38) E221Q probably damaging Het
Muc4 C G 16: 32,753,930 (GRCm38) Q1269E probably benign Het
Mug1 C A 6: 121,861,220 (GRCm38) H470N possibly damaging Het
Myom1 A G 17: 71,117,436 (GRCm38) T1525A probably benign Het
Nap1l1 C T 10: 111,490,456 (GRCm38) S143L probably benign Het
Olfr366 C T 2: 37,219,660 (GRCm38) T57I probably benign Het
Olfr531 A T 7: 140,400,697 (GRCm38) Y116* probably null Het
Olfr646 T A 7: 104,106,988 (GRCm38) S236R probably damaging Het
Olfr847 G T 9: 19,375,065 (GRCm38) T272K probably benign Het
Plbd2 T C 5: 120,485,754 (GRCm38) S568G probably damaging Het
Plxna4 T A 6: 32,206,233 (GRCm38) probably null Het
Plxnc1 T A 10: 94,794,477 (GRCm38) E1520V probably damaging Het
Ppil3 G A 1: 58,434,379 (GRCm38) T104I possibly damaging Het
Ptprm A T 17: 67,095,539 (GRCm38) V118E probably damaging Het
Rimbp2 T C 5: 128,774,335 (GRCm38) D849G probably damaging Het
Rnf213 T C 11: 119,470,219 (GRCm38) probably null Het
Sema3f T A 9: 107,705,432 (GRCm38) K37N probably benign Het
Sh3glb1 G T 3: 144,692,131 (GRCm38) probably null Het
Sh3rf3 A G 10: 59,086,815 (GRCm38) D571G probably benign Het
Sipa1l3 T C 7: 29,377,725 (GRCm38) Y874C probably damaging Het
Smchd1 G A 17: 71,475,301 (GRCm38) probably benign Het
Ssrp1 C T 2: 85,041,181 (GRCm38) R316W probably damaging Het
Syt10 A T 15: 89,826,898 (GRCm38) V144E probably damaging Het
Tdrd12 A G 7: 35,488,692 (GRCm38) L562P Het
Trim68 T C 7: 102,684,469 (GRCm38) D2G possibly damaging Het
Trub2 T A 2: 29,777,908 (GRCm38) H240L probably damaging Het
Tssc4 A G 7: 143,069,778 (GRCm38) probably null Het
Usp7 T A 16: 8,698,811 (GRCm38) Q539L probably benign Het
Vmn2r17 T A 5: 109,452,965 (GRCm38) C710S possibly damaging Het
Vmn2r99 G T 17: 19,393,817 (GRCm38) V600F possibly damaging Het
Vps13d C T 4: 145,100,065 (GRCm38) V2879M Het
Vrtn T A 12: 84,650,306 (GRCm38) M610K probably benign Het
Xpo4 T C 14: 57,613,349 (GRCm38) E366G probably benign Het
Zyg11a G A 4: 108,183,648 (GRCm38) P703S probably damaging Het
Other mutations in Snrnp70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Snrnp70 APN 7 45,377,354 (GRCm38) critical splice donor site probably null
IGL01092:Snrnp70 APN 7 45,377,377 (GRCm38) missense probably damaging 0.98
IGL01444:Snrnp70 APN 7 45,387,236 (GRCm38) splice site probably null
IGL03110:Snrnp70 APN 7 45,376,859 (GRCm38) intron probably benign
R0691:Snrnp70 UTSW 7 45,387,245 (GRCm38) missense possibly damaging 0.60
R1371:Snrnp70 UTSW 7 45,380,705 (GRCm38) unclassified probably benign
R1854:Snrnp70 UTSW 7 45,377,220 (GRCm38) nonsense probably null
R1880:Snrnp70 UTSW 7 45,377,362 (GRCm38) splice site probably null
R2050:Snrnp70 UTSW 7 45,387,300 (GRCm38) nonsense probably null
R4928:Snrnp70 UTSW 7 45,377,281 (GRCm38) splice site probably null
R5195:Snrnp70 UTSW 7 45,394,710 (GRCm38) missense probably damaging 1.00
R5314:Snrnp70 UTSW 7 45,377,052 (GRCm38) nonsense probably null
R5326:Snrnp70 UTSW 7 45,377,233 (GRCm38) intron probably benign
R5522:Snrnp70 UTSW 7 45,377,177 (GRCm38) intron probably benign
R6182:Snrnp70 UTSW 7 45,377,073 (GRCm38) nonsense probably null
R6739:Snrnp70 UTSW 7 45,387,419 (GRCm38) missense probably damaging 1.00
R7607:Snrnp70 UTSW 7 45,392,264 (GRCm38) missense possibly damaging 0.82
R7840:Snrnp70 UTSW 7 45,376,790 (GRCm38) missense unknown
R9519:Snrnp70 UTSW 7 45,387,451 (GRCm38) missense probably benign 0.29
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26