Incidental Mutation 'IGL00484:Snapc3'
ID 14169
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 # IGL00484
Quality Score
Status
Chromosome 4
Chromosomal Location 83335961-83385913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83354633 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D2C9
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
Adgra1 A G 7: 139,455,860 (GRCm39) Q496R probably benign Het
Ankrd17 A T 5: 90,416,220 (GRCm39) S1151T probably damaging Het
Ankrd55 A G 13: 112,504,328 (GRCm39) K330R probably benign Het
Anln A T 9: 22,272,120 (GRCm39) Y666* probably null Het
Atp1a2 A G 1: 172,103,569 (GRCm39) W984R probably damaging Het
Atp8b3 G T 10: 80,361,998 (GRCm39) probably benign Het
Casc3 A G 11: 98,714,028 (GRCm39) E420G possibly damaging Het
Cep250 G A 2: 155,833,249 (GRCm39) D1724N probably benign Het
Dhx15 T G 5: 52,324,154 (GRCm39) E379D probably benign Het
Dock1 T A 7: 134,748,260 (GRCm39) probably benign Het
Exph5 C T 9: 53,288,006 (GRCm39) Q1696* probably null Het
Fkbp6 C A 5: 135,368,802 (GRCm39) A213S possibly damaging Het
Fndc4 A G 5: 31,450,840 (GRCm39) probably benign Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Glmp T A 3: 88,233,169 (GRCm39) probably null Het
H2ac22 G T 13: 21,971,091 (GRCm39) R100S probably benign Het
Hapstr1 T C 16: 8,649,175 (GRCm39) probably benign Het
Ighv1-19 G A 12: 114,672,329 (GRCm39) T97I probably benign Het
Kdm6b T C 11: 69,297,132 (GRCm39) S407G possibly damaging Het
Lrp1b T C 2: 41,000,873 (GRCm39) Y2231C probably damaging Het
Lyst T A 13: 13,884,188 (GRCm39) S2999T probably benign Het
Lztr1 T C 16: 17,335,314 (GRCm39) probably benign Het
N4bp2 T C 5: 65,964,867 (GRCm39) V972A probably damaging Het
Ncoa6 A T 2: 155,248,128 (GRCm39) S1725R probably damaging Het
Nfkbiz A G 16: 55,638,272 (GRCm39) V396A probably benign Het
Nup205 A G 6: 35,191,737 (GRCm39) Q1074R probably damaging Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Peli1 T A 11: 21,096,952 (GRCm39) V114E probably damaging Het
Phf20l1 T G 15: 66,487,482 (GRCm39) probably benign Het
Pik3r1 A C 13: 101,838,255 (GRCm39) I267S probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppl A G 16: 4,905,816 (GRCm39) I1493T probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Pramel28 G A 4: 143,693,184 (GRCm39) probably benign Het
Prg3 A G 2: 84,819,091 (GRCm39) I6V probably benign Het
Ptprg T C 14: 12,215,220 (GRCm38) V1069A probably damaging Het
Rasal2 A T 1: 157,001,745 (GRCm39) probably null Het
Slc36a2 A T 11: 55,053,614 (GRCm39) Y341* probably null Het
Srrm2 T A 17: 24,037,492 (GRCm39) S1475T probably benign Het
Sycp2 A T 2: 178,024,141 (GRCm39) D414E probably damaging Het
Tanc1 A G 2: 59,623,520 (GRCm39) T468A probably benign Het
Tfap2d A G 1: 19,213,105 (GRCm39) T310A probably benign Het
Tgfbr2 T A 9: 115,987,357 (GRCm39) I51F probably benign Het
Trip11 A T 12: 101,851,570 (GRCm39) C546* probably null Het
Ttbk2 C T 2: 120,604,367 (GRCm39) W210* probably null Het
Upk1b T G 16: 38,600,378 (GRCm39) N201H possibly damaging Het
Uqcc5 T A 14: 30,810,879 (GRCm39) probably benign Het
Ush2a A T 1: 188,514,710 (GRCm39) T3180S probably benign Het
Vps13d T G 4: 144,853,145 (GRCm39) Q2323P probably benign Het
Zfp810 A T 9: 22,189,605 (GRCm39) Y434* probably null Het
Other mutations in Snapc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03141:Snapc3 APN 4 83,353,523 (GRCm39) missense probably damaging 1.00
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 2012-12-06