Incidental Mutation 'R4928:Snrnp70'
ID 380998
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 042529-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4928 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45376453-45395742 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 45377281 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074575] [ENSMUST00000074575] [ENSMUST00000210514] [ENSMUST00000211211]
AlphaFold Q62376
Predicted Effect probably null
Transcript: ENSMUST00000074575
SMART Domains Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511

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 null
Transcript: ENSMUST00000074575
SMART Domains Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511

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: ENSMUST00000209993
Predicted Effect probably benign
Transcript: ENSMUST00000210514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211178
Predicted Effect probably benign
Transcript: ENSMUST00000211211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211366
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 98% (123/126)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530021J07Rik G T 7: 83,155,878 (GRCm38) noncoding transcript Het
Aasdh T A 5: 76,896,688 (GRCm38) K118N possibly damaging Het
Abca14 A T 7: 120,324,580 (GRCm38) N1620I possibly damaging Het
Acap1 A T 11: 69,885,815 (GRCm38) S149T possibly damaging Het
Adgre1 T A 17: 57,444,064 (GRCm38) Y579* probably null Het
Aifm3 T C 16: 17,500,432 (GRCm38) probably benign Het
Aldh16a1 A G 7: 45,141,961 (GRCm38) W107R probably damaging Het
Amer2 A T 14: 60,379,445 (GRCm38) H363L possibly damaging Het
Arhgap10 A G 8: 77,426,328 (GRCm38) probably null Het
Arhgef6 A T X: 57,234,878 (GRCm38) D742E probably damaging Het
Astn2 A T 4: 65,729,407 (GRCm38) N731K probably damaging Het
Atp1a2 T C 1: 172,278,387 (GRCm38) T904A possibly damaging Het
Atr C T 9: 95,907,299 (GRCm38) R1503W probably damaging Het
Cdh3 G T 8: 106,536,610 (GRCm38) R97L probably benign Het
Chst2 C T 9: 95,406,006 (GRCm38) V96I probably benign Het
Cit T A 5: 115,985,797 (GRCm38) N1464K probably benign Het
Col17a1 A T 19: 47,670,458 (GRCm38) probably null Het
Col4a3 G A 1: 82,710,977 (GRCm38) probably benign Het
Copz1 T A 15: 103,291,330 (GRCm38) S57R probably damaging Het
Cpped1 A T 16: 11,828,279 (GRCm38) F227Y probably damaging Het
Cyp2j12 A T 4: 96,102,151 (GRCm38) probably null Het
Dctn1 T A 6: 83,189,207 (GRCm38) I195N possibly damaging Het
Dhrs7b A G 11: 60,851,925 (GRCm38) I148V probably benign Het
Dnah17 T C 11: 118,027,433 (GRCm38) D4096G probably damaging Het
Dnajc13 T C 9: 104,233,638 (GRCm38) N145D possibly damaging Het
Ecpas A G 4: 58,827,073 (GRCm38) V1020A probably damaging Het
Entrep2 G T 7: 64,759,368 (GRCm38) S426* probably null Het
Ercc6l2 T C 13: 63,894,813 (GRCm38) probably benign Het
Fads6 T G 11: 115,296,561 (GRCm38) I103L probably benign Het
Fat4 T G 3: 39,010,465 (GRCm38) Y4857D probably damaging Het
Fbxl14 T A 6: 119,480,710 (GRCm38) L284Q probably damaging Het
Fkbp9 T C 6: 56,849,670 (GRCm38) V85A possibly damaging Het
Galnt13 T A 2: 54,516,565 (GRCm38) V9E probably damaging Het
Gm14412 A T 2: 177,314,580 (GRCm38) S507R probably benign Het
Gm15142 T A X: 154,638,419 (GRCm38) noncoding transcript Het
Gm4787 T C 12: 81,378,838 (GRCm38) E182G probably benign Het
Gm6811 C A 17: 21,094,631 (GRCm38) noncoding transcript Het
Gm9791 A T 3: 34,005,069 (GRCm38) noncoding transcript Het
Hoxb7 A T 11: 96,289,510 (GRCm38) probably null Het
Ift122 T A 6: 115,915,858 (GRCm38) probably benign Het
Krt28 C T 11: 99,374,632 (GRCm38) V70I probably benign Het
Lig1 T C 7: 13,298,738 (GRCm38) S459P probably damaging Het
Lrfn3 C T 7: 30,360,623 (GRCm38) R59H possibly damaging Het
Mavs T C 2: 131,246,743 (GRCm38) V489A probably benign Het
Mcm8 C T 2: 132,839,479 (GRCm38) P625L probably benign Het
Megf10 G T 18: 57,240,673 (GRCm38) R181L probably benign Het
Mgrn1 G A 16: 4,927,862 (GRCm38) G440D probably benign Het
Mllt3 T C 4: 87,782,405 (GRCm38) probably null Het
Muc5ac T A 7: 141,817,902 (GRCm38) Y2613* probably null Het
Myh14 C T 7: 44,635,502 (GRCm38) G662S probably benign Het
Myod1 T A 7: 46,377,050 (GRCm38) N126K probably damaging Het
Nae1 A T 8: 104,516,142 (GRCm38) H439Q possibly damaging Het
Narf T A 11: 121,244,939 (GRCm38) V136E possibly damaging Het
Ncapd3 T A 9: 27,071,735 (GRCm38) C926* probably null Het
Ndufv2 C A 17: 66,092,658 (GRCm38) probably null Het
Neb T C 2: 52,212,975 (GRCm38) S449G possibly damaging Het
Nek10 C T 14: 14,930,577 (GRCm38) P698L probably damaging Het
Nox3 T A 17: 3,635,275 (GRCm38) E566V probably null Het
Oas1a C T 5: 120,905,724 (GRCm38) R115H probably benign Het
Or10ag60 C A 2: 87,608,143 (GRCm38) L252I probably benign Het
Or51b6 A G 7: 103,906,672 (GRCm38) T78A probably damaging Het
Or5w19 A G 2: 87,868,230 (GRCm38) M80V probably benign Het
Or8k30 T A 2: 86,509,125 (GRCm38) L222H probably damaging Het
Pbld2 A G 10: 63,047,999 (GRCm38) H142R probably damaging Het
Pcdha4 C T 18: 36,954,816 (GRCm38) T684M probably benign Het
Phc3 G T 3: 30,950,919 (GRCm38) T175N probably damaging Het
Pigs G T 11: 78,329,002 (GRCm38) V68L probably damaging Het
Pik3c2g T A 6: 139,967,802 (GRCm38) D857E possibly damaging Het
Pitpnm3 G A 11: 72,063,172 (GRCm38) P550S probably damaging Het
Pla2g15 G A 8: 106,163,218 (GRCm38) W374* probably null Het
Ptpn14 G A 1: 189,822,642 (GRCm38) C133Y probably damaging Het
Ptpn20 A G 14: 33,614,489 (GRCm38) N95S probably benign Het
Ptrh2 G T 11: 86,690,036 (GRCm38) V160F probably damaging Het
Rapgef3 T C 15: 97,757,375 (GRCm38) D486G probably damaging Het
Rev3l T G 10: 39,823,985 (GRCm38) S1493A probably benign Het
Rgs9 T A 11: 109,225,744 (GRCm38) D411V probably benign Het
Rgsl1 A T 1: 153,793,768 (GRCm38) Y291N probably damaging Het
Rprd2 A G 3: 95,764,537 (GRCm38) Y1185H probably damaging Het
Rpusd3 A G 6: 113,416,206 (GRCm38) probably benign Het
Scnn1a T C 6: 125,322,173 (GRCm38) I72T probably damaging Het
Sdk1 A T 5: 141,857,003 (GRCm38) probably benign Het
Sfmbt2 T C 2: 10,445,745 (GRCm38) L277P probably benign Het
Sgf29 A G 7: 126,664,982 (GRCm38) E73G probably damaging Het
Slc12a6 T A 2: 112,352,961 (GRCm38) F764L probably damaging Het
Slc4a2 T C 5: 24,435,342 (GRCm38) probably null Het
Slc9a3 T G 13: 74,157,719 (GRCm38) V285G probably damaging Het
Slc9c1 A G 16: 45,575,409 (GRCm38) T608A probably benign Het
Slfnl1 C T 4: 120,535,685 (GRCm38) R325C probably damaging Het
Smarcad1 T A 6: 65,074,914 (GRCm38) F344I probably benign Het
Sod2 C T 17: 13,008,186 (GRCm38) T9M probably benign Het
Spag5 T A 11: 78,314,373 (GRCm38) S633T probably damaging Het
Spta1 A T 1: 174,191,056 (GRCm38) I531L probably benign Het
Stra8 A G 6: 34,933,156 (GRCm38) E60G probably benign Het
Sult2a3 T A 7: 14,111,557 (GRCm38) I126F probably benign Het
Syt1 T C 10: 108,504,512 (GRCm38) H315R possibly damaging Het
Tanc2 T C 11: 105,867,762 (GRCm38) L783P probably damaging Het
Thbs2 C T 17: 14,678,900 (GRCm38) C646Y probably damaging Het
Ticam2 T A 18: 46,560,922 (GRCm38) K33* probably null Het
Trim17 T C 11: 58,954,301 (GRCm38) probably benign Het
Tsr1 G A 11: 74,907,879 (GRCm38) M691I probably benign Het
Ttn T A 2: 76,762,419 (GRCm38) I20790F probably damaging Het
Tubb2b A T 13: 34,128,185 (GRCm38) Y208* probably null Het
Ubr1 T A 2: 120,914,938 (GRCm38) I890F probably damaging Het
Usp54 T C 14: 20,562,192 (GRCm38) E852G probably damaging Het
Vmn2r78 T C 7: 86,954,627 (GRCm38) V671A probably damaging Het
Wipi1 T C 11: 109,579,649 (GRCm38) K315E probably benign Het
Xrn2 T C 2: 147,051,718 (GRCm38) V735A possibly damaging Het
Zdbf2 T A 1: 63,308,814 (GRCm38) D2117E possibly damaging Het
Zfp287 A T 11: 62,714,136 (GRCm38) C648* probably null Het
Zfp369 A G 13: 65,296,800 (GRCm38) T586A possibly 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
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
R7789:Snrnp70 UTSW 7 45,376,621 (GRCm38) nonsense probably null
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 2016-04-15