Incidental Mutation 'IGL01373:Snapc1'
ID84091
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 #IGL01373
Quality Score
Status
Chromosome12
Chromosomal Location73964481-73988966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73964680 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 40 (M40K)
Ref Sequence ENSEMBL: ENSMUSP00000021532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000222025]
Predicted Effect probably benign
Transcript: ENSMUST00000021532
AA Change: M40K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: M40K

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 noncoding transcript
Transcript: ENSMUST00000181735
Predicted Effect probably benign
Transcript: ENSMUST00000221833
Predicted Effect unknown
Transcript: ENSMUST00000222025
AA Change: M40K
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Snapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Snapc1 APN 12 73968374 splice site probably null
IGL00529:Snapc1 APN 12 73964655 missense probably benign 0.00
IGL00676:Snapc1 APN 12 73971913 missense probably damaging 1.00
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
R8507:Snapc1 UTSW 12 73964732 missense probably damaging 1.00
Posted On2013-11-11