Incidental Mutation 'IGL00484:Snapc3'
ID14169
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 #IGL00484
Quality Score
Status
Chromosome4
Chromosomal Location83417724-83467676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83436396 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 215 (I215V)
Ref Sequence ENSEMBL: ENSMUSP00000102842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000071544] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]
Predicted Effect probably benign
Transcript: ENSMUST00000030206
AA Change: I215V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: I215V

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 198 401 6.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071544
AA Change: I215V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: I215V

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 269 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123262
AA Change: I215V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: I215V

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124856
AA Change: I215V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: I215V

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137512
Predicted Effect probably benign
Transcript: ENSMUST00000143533
AA Change: I215V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: I215V

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dhx15 T G 5: 52,166,812 E379D probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fkbp6 C A 5: 135,339,948 A213S possibly damaging Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm12794 T C 4: 101,941,701 F290L probably benign Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Phf20l1 T G 15: 66,615,633 probably benign Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Slc36a2 A T 11: 55,162,788 Y341* probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Snapc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03141:Snapc3 APN 4 83435286 missense probably damaging 1.00
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
Posted On2012-12-06