Incidental Mutation 'R6322:Snapc5'
ID 510158
Institutional Source Beutler Lab
Gene Symbol Snapc5
Ensembl Gene ENSMUSG00000032398
Gene Name small nuclear RNA activating complex, polypeptide 5
Synonyms 2010103A03Rik
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R6322 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64086556-64090414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64089455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 71 (I71K)
Ref Sequence ENSEMBL: ENSMUSP00000034965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000034965] [ENSMUST00000034966]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005066
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000034965
AA Change: I71K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034965
Gene: ENSMUSG00000032398
AA Change: I71K

DomainStartEndE-ValueType
Pfam:SNAPc19 7 101 5.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034966
SMART Domains Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399

DomainStartEndE-ValueType
Pfam:Ribosomal_L4 22 263 9.7e-47 PFAM
Pfam:Ribos_L4_asso_C 275 349 4e-34 PFAM
low complexity region 352 367 N/A INTRINSIC
low complexity region 375 419 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213760
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15446 A T 5: 110,091,383 (GRCm39) H545L probably damaging Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Hfe T A 13: 23,889,879 (GRCm39) H210L probably damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nkx1-1 T C 5: 33,588,389 (GRCm39) N300D probably damaging Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Phf21b C A 15: 84,671,580 (GRCm39) R438L possibly damaging Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Simc1 T C 13: 54,698,382 (GRCm39) L1334S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Other mutations in Snapc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Snapc5 APN 9 64,087,779 (GRCm39) critical splice acceptor site probably null
R0400:Snapc5 UTSW 9 64,087,789 (GRCm39) missense probably damaging 1.00
R0606:Snapc5 UTSW 9 64,086,582 (GRCm39) unclassified probably benign
R4097:Snapc5 UTSW 9 64,087,809 (GRCm39) missense probably damaging 0.99
R7895:Snapc5 UTSW 9 64,086,614 (GRCm39) start codon destroyed probably null
RF011:Snapc5 UTSW 9 64,089,493 (GRCm39) unclassified probably benign
RF013:Snapc5 UTSW 9 64,089,493 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGGCAACAAGTACTTTAACTGC -3'
(R):5'- CCCTGCAAGATGACTTTGAAG -3'

Sequencing Primer
(F):5'- TTAAGAGTGCCGACTGCTC -3'
(R):5'- CCCTGCAAGATGACTTTGAAGAGATG -3'
Posted On 2018-04-02