Incidental Mutation 'IGL00272:Snapc1'
ID5979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapc1
Ensembl Gene ENSMUSG00000021113
Gene Namesmall nuclear RNA activating complex, polypeptide 1
Synonyms2700033G17Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00272
Quality Score
Status
Chromosome12
Chromosomal Location73964481-73988966 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 73968374 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556] [ENSMUST00000222025]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021532
AA Change: K161E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: K161E

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
Predicted Effect probably null
Transcript: ENSMUST00000221833
Predicted Effect probably benign
Transcript: ENSMUST00000222025
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,973,540 V41A probably damaging Het
4932431P20Rik G T 7: 29,537,622 noncoding transcript Het
AI481877 A G 4: 59,086,961 F284L probably benign Het
Ankrd12 C T 17: 65,986,174 V755I probably benign Het
Arrdc3 T C 13: 80,890,572 S218P probably damaging Het
Bzw1 T C 1: 58,402,942 V292A possibly damaging Het
Cers2 T C 3: 95,321,900 Y228H probably damaging Het
Egf C T 3: 129,711,449 M625I probably benign Het
Fbxw8 A T 5: 118,068,097 H595Q probably benign Het
Fshr T A 17: 88,985,271 I660F probably benign Het
Gapdh C T 6: 125,162,507 V267M probably damaging Het
Ginm1 T C 10: 7,792,696 probably benign Het
Gja1 A G 10: 56,388,322 D259G probably benign Het
Gm21814 T A 6: 149,582,004 noncoding transcript Het
Gm26870 T C 9: 3,002,340 probably benign Het
Habp2 G A 19: 56,317,832 C482Y probably damaging Het
Knl1 A C 2: 119,064,083 N79T probably damaging Het
Lama3 G A 18: 12,491,548 C1450Y probably damaging Het
Lats2 T C 14: 57,691,569 T950A probably benign Het
Map2k2 T A 10: 81,121,073 M95K probably damaging Het
Med12l T A 3: 59,042,336 I160N probably damaging Het
Olfr1158 A T 2: 87,990,438 D109V probably damaging Het
Olfr1160 A G 2: 88,006,644 S45P probably damaging Het
Pes1 T C 11: 3,976,803 S362P probably damaging Het
Pih1h3b A G X: 140,105,962 I197V probably benign Het
Ppp6r2 G T 15: 89,285,813 A844S probably benign Het
Rnf130 A G 11: 50,093,796 I308V probably damaging Het
Scn11a T C 9: 119,816,603 N95S probably damaging Het
Skint2 A G 4: 112,624,212 T91A probably damaging Het
Smg1 A G 7: 118,198,271 probably benign Het
Stard10 A T 7: 101,321,966 Y47F probably damaging Het
Tenm3 C T 8: 48,417,060 V233I probably damaging Het
Tex14 G A 11: 87,535,643 S1165N probably damaging Het
Unc5a A G 13: 54,995,820 I106V probably benign Het
Vps54 T A 11: 21,277,909 Y275N possibly damaging Het
Other mutations in Snapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Snapc1 APN 12 73964655 missense probably benign 0.00
IGL00676:Snapc1 APN 12 73971913 missense probably damaging 1.00
IGL01373:Snapc1 APN 12 73964680 missense probably benign 0.00
IGL02060:Snapc1 APN 12 73968036 missense probably damaging 1.00
IGL02309:Snapc1 APN 12 73968027 missense probably damaging 1.00
IGL02653:Snapc1 APN 12 73982487 missense probably benign 0.00
IGL02686:Snapc1 APN 12 73964596 intron probably benign
IGL03160:Snapc1 APN 12 73970204 missense probably damaging 1.00
PIT4362001:Snapc1 UTSW 12 73982495 missense probably damaging 0.98
R0056:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0057:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0057:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0113:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0152:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0153:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0244:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0245:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0316:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0318:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0352:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0646:Snapc1 UTSW 12 73975032 missense probably damaging 1.00
R0841:Snapc1 UTSW 12 73975006 splice site probably benign
R2188:Snapc1 UTSW 12 73970227 missense probably damaging 1.00
R2483:Snapc1 UTSW 12 73964643 missense probably benign 0.02
R4165:Snapc1 UTSW 12 73982580 critical splice donor site probably null
R4169:Snapc1 UTSW 12 73982491 missense probably benign 0.00
R4549:Snapc1 UTSW 12 73970279 missense probably damaging 0.97
R4550:Snapc1 UTSW 12 73970279 missense probably damaging 0.97
R4658:Snapc1 UTSW 12 73983868 missense possibly damaging 0.75
R6976:Snapc1 UTSW 12 73970200 missense probably damaging 1.00
R7432:Snapc1 UTSW 12 73968294 missense probably benign 0.01
R7488:Snapc1 UTSW 12 73982511 missense probably benign 0.39
Posted On2012-04-20