Incidental Mutation 'IGL03141:Snapc3'
ID410691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapc3
Ensembl Gene ENSMUSG00000028483
Gene Namesmall nuclear RNA activating complex, polypeptide 3
Synonyms4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL03141
Quality Score
Status
Chromosome4
Chromosomal Location83417724-83467676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83435286 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 187 (I187M)
Ref Sequence ENSEMBL: ENSMUSP00000102842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000071544] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]
Predicted Effect probably damaging
Transcript: ENSMUST00000030206
AA Change: I187M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: I187M

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 198 401 6.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071544
AA Change: I187M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: I187M

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 269 3.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123262
AA Change: I187M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: I187M

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124856
AA Change: I187M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: I187M

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137512
Predicted Effect probably damaging
Transcript: ENSMUST00000143533
AA Change: I187M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: I187M

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,323,328 I14T probably benign Het
AY761185 G A 8: 20,944,560 R51C possibly damaging Het
Cenpt T A 8: 105,851,941 T15S probably damaging Het
Cotl1 T C 8: 119,810,283 K131E possibly damaging Het
D5Ertd579e T A 5: 36,613,277 D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 I88K probably damaging Het
Gm11639 T C 11: 105,095,870 S5408P probably damaging Het
Gsto2 T C 19: 47,874,873 Y63H probably damaging Het
Lrp2 A T 2: 69,477,026 D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 D72A probably damaging Het
Npas1 T C 7: 16,465,138 E164G probably damaging Het
Olfr308 T A 7: 86,321,701 I84F probably damaging Het
Parp14 C A 16: 35,839,293 R1653L probably benign Het
Polq A G 16: 37,017,358 probably benign Het
Sec31b A T 19: 44,526,320 probably benign Het
Slc7a11 C T 3: 50,381,885 A337T possibly damaging Het
Sorcs2 T C 5: 36,065,355 E352G probably benign Het
Spout1 A C 2: 30,175,055 V311G probably damaging Het
Syne1 T A 10: 5,424,261 K182M probably damaging Het
Vmn2r110 A G 17: 20,583,714 S200P possibly damaging Het
Other mutations in Snapc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Snapc3 APN 4 83436396 missense probably damaging 0.97
IGL01400:Snapc3 APN 4 83450177 missense probably damaging 1.00
IGL02031:Snapc3 APN 4 83417976 missense probably benign 0.04
IGL02475:Snapc3 APN 4 83450096 missense probably benign 0.04
R0417:Snapc3 UTSW 4 83450162 missense probably benign 0.41
R0628:Snapc3 UTSW 4 83450160 missense probably benign 0.01
R0631:Snapc3 UTSW 4 83417802 missense probably damaging 0.99
R0647:Snapc3 UTSW 4 83450229 missense probably damaging 1.00
R2328:Snapc3 UTSW 4 83435277 nonsense probably null
R4454:Snapc3 UTSW 4 83418759 missense probably damaging 1.00
R4860:Snapc3 UTSW 4 83464897 intron probably benign
R6497:Snapc3 UTSW 4 83453126 nonsense probably null
R6762:Snapc3 UTSW 4 83435258 missense probably damaging 1.00
R7325:Snapc3 UTSW 4 83435270 missense probably benign 0.04
R7599:Snapc3 UTSW 4 83417836 nonsense probably null
R7880:Snapc3 UTSW 4 83435194 missense probably damaging 1.00
R7963:Snapc3 UTSW 4 83435194 missense probably damaging 1.00
Posted On2016-08-02