Incidental Mutation 'IGL03160:Snapc1'
ID411390
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 #IGL03160
Quality Score
Status
Chromosome12
Chromosomal Location73964481-73988966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73970204 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 205 (H205Q)
Ref Sequence ENSEMBL: ENSMUSP00000021532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556] [ENSMUST00000222025]
Predicted Effect probably damaging
Transcript: ENSMUST00000021532
AA Change: H205Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: H205Q

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 benign
Transcript: ENSMUST00000221833
Predicted Effect probably benign
Transcript: ENSMUST00000222025
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,255,928 S266P probably benign Het
Agrn A T 4: 156,170,363 F1525Y probably damaging Het
Akap13 T C 7: 75,730,417 V2165A probably damaging Het
Cd109 G T 9: 78,661,056 probably null Het
Cdhr4 A C 9: 107,995,869 T339P probably benign Het
Chek1 T C 9: 36,722,645 H128R probably damaging Het
Clcn7 T A 17: 25,146,453 probably benign Het
Dnah9 A G 11: 66,108,054 F1056S probably damaging Het
Eml3 A T 19: 8,934,955 Q372L probably benign Het
Fam161b T C 12: 84,353,825 T458A probably benign Het
Fbxo3 T A 2: 104,030,347 C36* probably null Het
Gm28042 T A 2: 120,035,828 I369N possibly damaging Het
Gpc1 A G 1: 92,857,857 Y423C probably damaging Het
Heatr5a A G 12: 51,884,496 probably benign Het
Hectd4 A T 5: 121,259,879 Y290F probably benign Het
Ifi207 T C 1: 173,735,104 probably benign Het
Kndc1 A T 7: 139,920,689 K657* probably null Het
Lama5 T C 2: 180,180,335 T2927A probably damaging Het
Lepr A T 4: 101,764,906 N345I probably damaging Het
Mtbp T C 15: 55,620,617 probably benign Het
Muc1 G A 3: 89,233,024 V608I possibly damaging Het
Olfr679 A G 7: 105,086,313 N199S probably damaging Het
P2ry13 A G 3: 59,210,075 L94P probably damaging Het
Retreg3 G T 11: 101,099,675 Q89K probably benign Het
Rhoq A C 17: 86,996,921 Y160S probably damaging Het
Samd9l A T 6: 3,374,894 V789D probably damaging Het
Slc35f5 T C 1: 125,574,735 S275P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Stard3 G T 11: 98,378,911 R352L probably damaging Het
Stat5a A G 11: 100,861,845 I85V possibly damaging Het
Tenm3 A T 8: 48,646,418 D117E probably benign Het
Tg T A 15: 66,839,303 C971* probably null Het
Tnrc6c T A 11: 117,749,825 probably benign Het
Tra2a C T 6: 49,263,864 V4I possibly damaging Het
Trim54 C T 5: 31,132,080 T145I probably damaging Het
Vmn2r75 T C 7: 86,148,436 D723G probably damaging Het
Wisp3 T C 10: 39,153,237 T232A probably damaging Het
Wnk1 T C 6: 119,926,633 T2042A probably damaging Het
Zfp87 T C 13: 67,521,273 E18G probably damaging 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
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
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 On2016-08-02