Incidental Mutation 'R4097:Snapc5'
ID 317172
Institutional Source Beutler Lab
Gene Symbol Snapc5
Ensembl Gene ENSMUSG00000032398
Gene Name small nuclear RNA activating complex, polypeptide 5
Synonyms 2010103A03Rik
MMRRC Submission 040984-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R4097 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64086556-64090414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64087809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 40 (I40T)
Ref Sequence ENSEMBL: ENSMUSP00000034965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034965] [ENSMUST00000034966]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034965
AA Change: I40T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034965
Gene: ENSMUSG00000032398
AA Change: I40T

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: ENSMUST00000082984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217055
Meta Mutation Damage Score 0.2864 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.1%
Validation Efficiency 100% (48/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,348,228 (GRCm39) F292L probably damaging Het
Ankrd36 A G 11: 5,578,703 (GRCm39) D664G possibly damaging Het
Bbs1 T A 19: 4,947,345 (GRCm39) Y358F probably damaging Het
Becn1 C T 11: 101,185,092 (GRCm39) probably benign Het
Cenpp A T 13: 49,647,265 (GRCm39) N47I possibly damaging Het
Clec4n A T 6: 123,207,700 (GRCm39) H55L possibly damaging Het
Cntnap4 A G 8: 113,478,939 (GRCm39) I222V probably benign Het
Cttnbp2 T C 6: 18,420,871 (GRCm39) E370G probably benign Het
Cyp4a10 T A 4: 115,386,480 (GRCm39) V413E probably damaging Het
Dctn2 C T 10: 127,113,362 (GRCm39) L249F probably damaging Het
Dnah9 T C 11: 65,881,285 (GRCm39) S146G probably damaging Het
Dzip3 A T 16: 48,778,852 (GRCm39) L315* probably null Het
Evpl T C 11: 116,114,003 (GRCm39) E1229G possibly damaging Het
Ice2 T C 9: 69,328,953 (GRCm39) V775A possibly damaging Het
Jmjd1c A G 10: 67,054,787 (GRCm39) E69G probably benign Het
Lrrc66 T A 5: 73,765,047 (GRCm39) R665S possibly damaging Het
Mpdz T A 4: 81,253,937 (GRCm39) H1065L probably damaging Het
Nrf1 C T 6: 30,151,671 (GRCm39) Q503* probably null Het
Nt5dc3 G A 10: 86,669,820 (GRCm39) A472T probably benign Het
Oprk1 T A 1: 5,673,034 (GRCm39) probably benign Het
Or7g17 T C 9: 18,767,933 (GRCm39) I4T probably benign Het
Or9g3 T C 2: 85,590,040 (GRCm39) I227V possibly damaging Het
Pramel6 T G 2: 87,339,697 (GRCm39) F154V probably benign Het
Ralb T C 1: 119,411,228 (GRCm39) D37G probably benign Het
Ranbp9 A T 13: 43,574,733 (GRCm39) Y412N probably damaging Het
Scg2 T A 1: 79,413,538 (GRCm39) D395V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpine3 T A 14: 62,908,395 (GRCm39) L141Q probably damaging Het
Sgpl1 C T 10: 60,939,017 (GRCm39) G394D probably damaging Het
Sh3pxd2a T C 19: 47,412,951 (GRCm39) Y44C probably damaging Het
Slc6a20b A G 9: 123,441,822 (GRCm39) probably benign Het
Spopl T C 2: 23,401,413 (GRCm39) H365R probably benign Het
Stil T A 4: 114,880,797 (GRCm39) I447N probably benign Het
Taf3 C A 2: 9,957,178 (GRCm39) V330F possibly damaging Het
Tgoln1 T C 6: 72,592,784 (GRCm39) E232G probably damaging Het
Thrap3 A G 4: 126,065,595 (GRCm39) L729P probably damaging Het
Tmem269 A T 4: 119,062,977 (GRCm39) F220Y probably damaging Het
Tnrc18 ATCTTCC A 5: 142,759,561 (GRCm39) probably benign Het
Ubxn6 T C 17: 56,376,712 (GRCm39) T227A probably benign Het
Wdr17 C A 8: 55,088,504 (GRCm39) R1182I probably damaging Het
Wdr26 T C 1: 181,010,352 (GRCm39) I550V probably benign Het
Wdr43 A G 17: 71,964,532 (GRCm39) N637S probably benign Het
Zfp516 A G 18: 83,005,381 (GRCm39) T762A possibly damaging 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
R6322:Snapc5 UTSW 9 64,089,455 (GRCm39) missense probably damaging 1.00
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'- TGTCTGTGGAACCAGCTGTC -3'
(R):5'- TGGTACTTCCCAGAGTCCTTTG -3'

Sequencing Primer
(F):5'- AATTCAAGGCCAGCTTGGTC -3'
(R):5'- GGACTTGGTAATAATGTGCCATACAG -3'
Posted On 2015-05-15