Incidental Mutation 'R0841:Snapc1'
ID 77178
Institutional Source Beutler Lab
Gene Symbol Snapc1
Ensembl Gene ENSMUSG00000021113
Gene Name small nuclear RNA activating complex, polypeptide 1
Synonyms 2700033G17Rik, 9630050P21Rik
MMRRC Submission 039020-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0841 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 74011255-74035740 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 74021780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556]
AlphaFold Q8K0S9
Predicted Effect probably benign
Transcript: ENSMUST00000021532
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:SNAPc_SNAP43 26 210 4.5e-65 PFAM
low complexity region 261 273 N/A INTRINSIC
low complexity region 307 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220882
Predicted Effect probably benign
Transcript: ENSMUST00000220909
Predicted Effect probably benign
Transcript: ENSMUST00000221556
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,860,986 (GRCm39) M205L probably benign Het
Aass A T 6: 23,075,810 (GRCm39) C776S probably benign Het
Abi3bp T C 16: 56,488,639 (GRCm39) S1257P possibly damaging Het
Arhgap9 T A 10: 127,165,508 (GRCm39) M639K probably damaging Het
Ctsj C T 13: 61,150,357 (GRCm39) S214N probably damaging Het
Dnali1 T C 4: 124,959,340 (GRCm39) S18G possibly damaging Het
Eif4g3 C T 4: 137,893,129 (GRCm39) T959M probably damaging Het
Eml3 G A 19: 8,915,049 (GRCm39) M635I probably benign Het
Eml6 A G 11: 29,727,430 (GRCm39) F1231L probably benign Het
Fat4 A C 3: 39,050,147 (GRCm39) K4003T probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgfr2 G A 7: 129,863,635 (GRCm39) P4S probably benign Het
Fgfr2 T C 7: 130,373,737 (GRCm39) probably benign Het
Glp1r T C 17: 31,138,406 (GRCm39) V160A probably benign Het
Gm9726 C T 12: 93,895,054 (GRCm39) noncoding transcript Het
Gm9956 C A 10: 56,621,424 (GRCm39) L29M unknown Het
Gm9956 T A 10: 56,621,425 (GRCm39) L29Q unknown Het
Hddc3 T A 7: 79,995,401 (GRCm39) S139T probably benign Het
Hmcn1 A T 1: 150,555,358 (GRCm39) probably null Het
Inpp5k T C 11: 75,524,285 (GRCm39) probably benign Het
Kcnq1 A G 7: 142,661,189 (GRCm39) K32E probably benign Het
Krtdap A T 7: 30,488,975 (GRCm39) probably benign Het
Ldb2 A G 5: 44,690,016 (GRCm39) L201P probably damaging Het
Mdn1 T C 4: 32,752,032 (GRCm39) V4590A probably benign Het
Nip7 C A 8: 107,784,007 (GRCm39) H82Q probably benign Het
Odad2 G T 18: 7,268,436 (GRCm39) P361Q probably damaging Het
Or52l1 A T 7: 104,830,061 (GRCm39) V168E probably damaging Het
Otud6b T A 4: 14,812,532 (GRCm39) T272S probably benign Het
Plxna1 A G 6: 89,309,186 (GRCm39) V1131A probably damaging Het
Prl7a1 T A 13: 27,826,393 (GRCm39) probably benign Het
Sipa1 C A 19: 5,704,835 (GRCm39) A587S probably benign Het
Slc17a6 A T 7: 51,275,063 (GRCm39) I41F probably benign Het
Slc43a2 T A 11: 75,457,815 (GRCm39) Y363* probably null Het
Smg1 A T 7: 117,742,524 (GRCm39) L3230Q possibly damaging Het
Syne2 T C 12: 76,121,209 (GRCm39) probably benign Het
Tap2 C A 17: 34,434,914 (GRCm39) D652E possibly damaging Het
Trp53rkb T C 2: 166,637,430 (GRCm39) C129R probably benign Het
Ugt2a2 T C 5: 87,622,648 (GRCm39) T317A probably benign Het
Ugt3a1 G A 15: 9,306,214 (GRCm39) S121N probably benign Het
Unc80 T C 1: 66,511,247 (GRCm39) V85A probably damaging Het
Vmn2r71 A G 7: 85,267,749 (GRCm39) T68A possibly damaging Het
Zfp7 G A 15: 76,775,704 (GRCm39) C582Y probably damaging Het
Other mutations in Snapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Snapc1 APN 12 74,015,148 (GRCm39) splice site probably null
IGL00529:Snapc1 APN 12 74,011,429 (GRCm39) missense probably benign 0.00
IGL00676:Snapc1 APN 12 74,018,687 (GRCm39) missense probably damaging 1.00
IGL01373:Snapc1 APN 12 74,011,454 (GRCm39) missense probably benign 0.00
IGL02060:Snapc1 APN 12 74,014,810 (GRCm39) missense probably damaging 1.00
IGL02309:Snapc1 APN 12 74,014,801 (GRCm39) missense probably damaging 1.00
IGL02653:Snapc1 APN 12 74,029,261 (GRCm39) missense probably benign 0.00
IGL02686:Snapc1 APN 12 74,011,370 (GRCm39) intron probably benign
IGL03160:Snapc1 APN 12 74,016,978 (GRCm39) missense probably damaging 1.00
PIT4362001:Snapc1 UTSW 12 74,029,269 (GRCm39) missense probably damaging 0.98
R0056:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0057:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0057:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0113:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0152:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0153:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0244:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0245:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0316:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0318:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0352:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0646:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R2188:Snapc1 UTSW 12 74,017,001 (GRCm39) missense probably damaging 1.00
R2483:Snapc1 UTSW 12 74,011,417 (GRCm39) missense probably benign 0.02
R4165:Snapc1 UTSW 12 74,029,354 (GRCm39) critical splice donor site probably null
R4169:Snapc1 UTSW 12 74,029,265 (GRCm39) missense probably benign 0.00
R4549:Snapc1 UTSW 12 74,017,053 (GRCm39) missense probably damaging 0.97
R4550:Snapc1 UTSW 12 74,017,053 (GRCm39) missense probably damaging 0.97
R4658:Snapc1 UTSW 12 74,030,642 (GRCm39) missense possibly damaging 0.75
R6976:Snapc1 UTSW 12 74,016,974 (GRCm39) missense probably damaging 1.00
R7432:Snapc1 UTSW 12 74,015,068 (GRCm39) missense probably benign 0.01
R7488:Snapc1 UTSW 12 74,029,285 (GRCm39) missense probably benign 0.39
R8507:Snapc1 UTSW 12 74,011,506 (GRCm39) missense probably damaging 1.00
R8809:Snapc1 UTSW 12 74,021,812 (GRCm39) missense probably benign 0.31
R9287:Snapc1 UTSW 12 74,018,773 (GRCm39) unclassified probably benign
R9685:Snapc1 UTSW 12 74,017,115 (GRCm39) critical splice donor site probably null
R9705:Snapc1 UTSW 12 74,015,150 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATTTTAACCCAGCGTGAGC -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

Sequencing Primer
(F):5'- CCCAGCGTGAGCTGGTG -3'
(R):5'- taccccccaaccaaccc -3'
Posted On 2013-10-16