Incidental Mutation 'R2323:Snrpc'
ID 244826
Institutional Source Beutler Lab
Gene Symbol Snrpc
Ensembl Gene ENSMUSG00000024217
Gene Name U1 small nuclear ribonucleoprotein C
Synonyms U1-C, Snrp1c
MMRRC Submission 040314-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2323 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 28059002-28070942 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 28066948 bp (GRCm39)
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

DomainStartEndE-ValueType
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: 25,335,187 (GRCm39) M2008I probably benign Het
Adgrv1 A G 13: 81,743,298 (GRCm39) S68P probably damaging Het
Albfm1 T A 5: 90,732,711 (GRCm39) Y507* probably null Het
Anks3 T C 16: 4,768,634 (GRCm39) probably null Het
Asap2 T C 12: 21,253,969 (GRCm39) I160T probably damaging Het
Asb15 T A 6: 24,556,600 (GRCm39) F32I probably benign Het
Catip A T 1: 74,402,437 (GRCm39) M103L probably benign Het
Cela2a G C 4: 141,553,390 (GRCm39) probably benign Het
Crebrf T C 17: 26,982,581 (GRCm39) probably benign Het
Dnah10 T C 5: 124,819,064 (GRCm39) M450T probably damaging Het
Dst T C 1: 34,267,518 (GRCm39) S5165P possibly damaging Het
Esrp2 T A 8: 106,860,934 (GRCm39) D196V probably benign Het
Hmox2 A T 16: 4,583,720 (GRCm39) K263* probably null Het
Ints10 A G 8: 69,271,997 (GRCm39) H566R probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Liph A G 16: 21,802,754 (GRCm39) V105A probably damaging Het
Myo1e T A 9: 70,286,040 (GRCm39) Y941* probably null Het
Myo7b T C 18: 32,104,398 (GRCm39) E1450G probably damaging Het
Myt1 G T 2: 181,448,350 (GRCm39) A594S probably damaging Het
Npas3 T A 12: 54,115,129 (GRCm39) Y666N probably damaging Het
Npsr1 A G 9: 24,211,732 (GRCm39) K240E probably damaging Het
Or52h7 T C 7: 104,213,826 (GRCm39) F133L probably benign Het
Rtkn2 A G 10: 67,837,764 (GRCm39) I102M probably damaging Het
Rundc1 T C 11: 101,316,101 (GRCm39) F58L probably damaging Het
Tgfbr2 T C 9: 115,939,212 (GRCm39) K205R possibly damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tnfrsf21 C A 17: 43,396,420 (GRCm39) S568* probably null Het
Tulp1 C T 17: 28,581,456 (GRCm39) G239D probably damaging Het
Vmn1r234 T C 17: 21,449,965 (GRCm39) I293T probably benign Het
Vmn1r26 T C 6: 57,985,842 (GRCm39) K116E probably damaging Het
Vmn2r98 T A 17: 19,286,081 (GRCm39) I193K probably benign Het
Wnk4 T A 11: 101,159,307 (GRCm39) S575T probably damaging Het
Zfp558 A T 9: 18,380,573 (GRCm39) probably null Het
Zscan18 T C 7: 12,509,386 (GRCm39) probably benign Het
Other mutations in Snrpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1789:Snrpc UTSW 17 28,064,193 (GRCm39) missense unknown
R4756:Snrpc UTSW 17 28,061,306 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACCATGACATGTTACAGTTGTG -3'
(R):5'- TGCTGTCAGTGGCACAAACC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGTCAGTGGCACAAACCAAATC -3'
Posted On 2014-10-30