Incidental Mutation 'R0152:Snapc1'
ID 60899
Institutional Source Beutler Lab
Gene Symbol Snapc1
Ensembl Gene ENSMUSG00000021113
Gene Name small nuclear RNA activating complex, polypeptide 1
Synonyms 2700033G17Rik, 9630050P21Rik
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0152 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 74011255-74035740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74021806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 81 (R81C)
Ref Sequence ENSEMBL: ENSMUSP00000152248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556]
AlphaFold Q8K0S9
Predicted Effect probably damaging
Transcript: ENSMUST00000021532
AA Change: R302C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: R302C

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 damaging
Transcript: ENSMUST00000220882
AA Change: R81C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000220909
AA Change: R48C
Predicted Effect probably benign
Transcript: ENSMUST00000221556
Meta Mutation Damage Score 0.2723 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Car5a T A 8: 122,643,185 (GRCm39) N273I probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Clip3 G A 7: 30,002,857 (GRCm39) A416T probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Kbtbd11 T C 8: 15,077,428 (GRCm39) V9A probably damaging Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc26a4 T C 12: 31,579,497 (GRCm39) I588M probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null 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
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
R0841:Snapc1 UTSW 12 74,021,780 (GRCm39) splice site probably benign
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'- CAGGAATCTGGCGGTACAGTTACG -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

Sequencing Primer
(F):5'- GCTCTGTCCTCAGACCATTT -3'
(R):5'- taccccccaaccaaccc -3'
Posted On 2013-07-24