Incidental Mutation 'IGL03141:Snapc3'
ID 410691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapc3
Ensembl Gene ENSMUSG00000028483
Gene Name small nuclear RNA activating complex, polypeptide 3
Synonyms 4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL03141
Quality Score
Status
Chromosome 4
Chromosomal Location 83335961-83385913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83353523 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D2C9
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: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly damaging Het
Other mutations in Snapc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Snapc3 APN 4 83,354,633 (GRCm39) missense probably damaging 0.97
IGL01400:Snapc3 APN 4 83,368,414 (GRCm39) missense probably damaging 1.00
IGL02031:Snapc3 APN 4 83,336,213 (GRCm39) missense probably benign 0.04
IGL02475:Snapc3 APN 4 83,368,333 (GRCm39) missense probably benign 0.04
R0417:Snapc3 UTSW 4 83,368,399 (GRCm39) missense probably benign 0.41
R0628:Snapc3 UTSW 4 83,368,397 (GRCm39) missense probably benign 0.01
R0631:Snapc3 UTSW 4 83,336,039 (GRCm39) missense probably damaging 0.99
R0647:Snapc3 UTSW 4 83,368,466 (GRCm39) missense probably damaging 1.00
R2328:Snapc3 UTSW 4 83,353,514 (GRCm39) nonsense probably null
R4454:Snapc3 UTSW 4 83,336,996 (GRCm39) missense probably damaging 1.00
R4860:Snapc3 UTSW 4 83,383,134 (GRCm39) intron probably benign
R6497:Snapc3 UTSW 4 83,371,363 (GRCm39) nonsense probably null
R6762:Snapc3 UTSW 4 83,353,495 (GRCm39) missense probably damaging 1.00
R7325:Snapc3 UTSW 4 83,353,507 (GRCm39) missense probably benign 0.04
R7599:Snapc3 UTSW 4 83,336,073 (GRCm39) nonsense probably null
R7880:Snapc3 UTSW 4 83,353,431 (GRCm39) missense probably damaging 1.00
R8489:Snapc3 UTSW 4 83,369,531 (GRCm39) missense probably damaging 1.00
R9412:Snapc3 UTSW 4 83,354,570 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02