Incidental Mutation 'R2323:Snrpc'
ID 244826
Institutional Source Beutler Lab
Gene Symbol Snrpc
Ensembl Gene ENSMUSG00000024217
Gene Name U1 small nuclear ribonucleoprotein C
Synonyms Snrp1c, U1-C
MMRRC Submission 040314-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2323 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 27839974-27851968 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 27847974 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 91 (M91R)
Ref Sequence ENSEMBL: ENSMUSP00000063976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071006]
AlphaFold Q62241
Predicted Effect unknown
Transcript: ENSMUST00000071006
AA Change: M91R
SMART Domains Protein: ENSMUSP00000063976
Gene: ENSMUSG00000024217
AA Change: M91R

ZnF_U1 1 37 5.13e-15 SMART
low complexity region 63 152 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137581
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G T 2: 25,445,175 (GRCm38) M2008I probably benign Het
Adgrv1 A G 13: 81,595,179 (GRCm38) S68P probably damaging Het
Albfm1 T A 5: 90,584,852 (GRCm38) Y507* probably null Het
Anks3 T C 16: 4,950,770 (GRCm38) probably null Het
Asap2 T C 12: 21,203,968 (GRCm38) I160T probably damaging Het
Asb15 T A 6: 24,556,601 (GRCm38) F32I probably benign Het
Catip A T 1: 74,363,278 (GRCm38) M103L probably benign Het
Cela2a G C 4: 141,826,079 (GRCm38) probably benign Het
Crebrf T C 17: 26,763,607 (GRCm38) probably benign Het
Dnah10 T C 5: 124,742,000 (GRCm38) M450T probably damaging Het
Dst T C 1: 34,228,437 (GRCm38) S5165P possibly damaging Het
Esrp2 T A 8: 106,134,302 (GRCm38) D196V probably benign Het
Hmox2 A T 16: 4,765,856 (GRCm38) K263* probably null Het
Ints10 A G 8: 68,819,345 (GRCm38) H566R probably benign Het
Ints12 G A 3: 133,109,365 (GRCm38) M444I possibly damaging Het
Liph A G 16: 21,984,004 (GRCm38) V105A probably damaging Het
Myo1e T A 9: 70,378,758 (GRCm38) Y941* probably null Het
Myo7b T C 18: 31,971,345 (GRCm38) E1450G probably damaging Het
Myt1 G T 2: 181,806,557 (GRCm38) A594S probably damaging Het
Npas3 T A 12: 54,068,346 (GRCm38) Y666N probably damaging Het
Npsr1 A G 9: 24,300,436 (GRCm38) K240E probably damaging Het
Or52h7 T C 7: 104,564,619 (GRCm38) F133L probably benign Het
Rtkn2 A G 10: 68,001,934 (GRCm38) I102M probably damaging Het
Rundc1 T C 11: 101,425,275 (GRCm38) F58L probably damaging Het
Tgfbr2 T C 9: 116,110,144 (GRCm38) K205R possibly damaging Het
Tmem181a T A 17: 6,295,786 (GRCm38) L185H probably damaging Het
Tnfrsf21 C A 17: 43,085,529 (GRCm38) S568* probably null Het
Tulp1 C T 17: 28,362,482 (GRCm38) G239D probably damaging Het
Vmn1r234 T C 17: 21,229,703 (GRCm38) I293T probably benign Het
Vmn1r26 T C 6: 58,008,857 (GRCm38) K116E probably damaging Het
Vmn2r98 T A 17: 19,065,819 (GRCm38) I193K probably benign Het
Wnk4 T A 11: 101,268,481 (GRCm38) S575T probably damaging Het
Zfp558 A T 9: 18,469,277 (GRCm38) probably null Het
Zscan18 T C 7: 12,775,459 (GRCm38) probably benign Het
Other mutations in Snrpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1789:Snrpc UTSW 17 27,845,219 (GRCm38) missense unknown
R4756:Snrpc UTSW 17 27,842,332 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-30