Incidental Mutation 'IGL01115:Napb'
ID50553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napb
Ensembl Gene ENSMUSG00000027438
Gene NameN-ethylmaleimide sensitive fusion protein attachment protein beta
SynonymsSNARE, Brp14, b-SNAP, E161, I47
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL01115
Quality Score
Status
Chromosome2
Chromosomal Location148693985-148732467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 148707169 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 111 (Y111C)
Ref Sequence ENSEMBL: ENSMUSP00000028926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028926] [ENSMUST00000136513]
Predicted Effect probably damaging
Transcript: ENSMUST00000028926
AA Change: Y111C

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
AA Change: Y111C

DomainStartEndE-ValueType
Pfam:SNAP 8 288 7.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136513
SMART Domains Protein: ENSMUSP00000120979
Gene: ENSMUSG00000027438

DomainStartEndE-ValueType
Pfam:SNAP 8 114 3.5e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140647
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit seizures, ataxia, abnormal synaptic vesicle priming, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik T C 19: 28,944,442 probably null Het
Abcc10 T C 17: 46,310,426 T934A probably benign Het
Ankzf1 T C 1: 75,192,615 L55P probably damaging Het
Aoc1 T C 6: 48,906,197 S336P probably damaging Het
Bmper T C 9: 23,399,689 probably benign Het
Capza2 A G 6: 17,654,123 N58S probably damaging Het
Cdca2 A G 14: 67,714,697 V75A probably damaging Het
Chmp7 A G 14: 69,721,323 S181P probably damaging Het
Colq A G 14: 31,545,128 probably benign Het
Dennd5b A G 6: 149,009,748 probably benign Het
Has3 A G 8: 106,878,688 T509A probably benign Het
Hsh2d T C 8: 72,200,619 S282P probably damaging Het
Impg2 C T 16: 56,259,440 P536S possibly damaging Het
Naip1 T A 13: 100,443,720 probably null Het
Olfr1132 T C 2: 87,635,384 D121G probably damaging Het
Osmr A G 15: 6,847,201 probably benign Het
Pcdh10 A G 3: 45,392,775 T1002A probably damaging Het
Plcg2 T C 8: 117,557,329 W122R probably damaging Het
Prpf19 C T 19: 10,900,203 T204M probably damaging Het
Ptbp1 T A 10: 79,859,962 probably benign Het
Ptpre T A 7: 135,670,764 D402E probably damaging Het
Siglec1 T C 2: 131,074,502 N1176S probably benign Het
Son A G 16: 91,659,458 T1698A probably benign Het
Speer2 C T 16: 69,861,651 W42* probably null Het
Taf5 T C 19: 47,075,082 V357A probably benign Het
Tctn1 A G 5: 122,264,207 S55P probably benign Het
Tmem115 T A 9: 107,534,582 L35Q probably damaging Het
Tmem30c T A 16: 57,276,117 probably benign Het
Tmprss7 T C 16: 45,660,789 D678G probably damaging Het
Ugt1a7c A T 1: 88,095,245 Q42L probably damaging Het
Unc13b T A 4: 43,258,492 V4099E probably damaging Het
Usp36 G A 11: 118,285,960 L11F probably damaging Het
Zfp955a T A 17: 33,242,580 K193* probably null Het
Zranb2 T C 3: 157,546,691 probably benign Het
Other mutations in Napb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02987:Napb APN 2 148697511 splice site probably null
R0068:Napb UTSW 2 148698923 splice site probably benign
R0068:Napb UTSW 2 148698923 splice site probably benign
R1218:Napb UTSW 2 148700425 missense probably damaging 1.00
R1851:Napb UTSW 2 148706989 missense probably benign 0.01
R3508:Napb UTSW 2 148698960 missense probably benign
R3689:Napb UTSW 2 148703057 splice site probably null
R3691:Napb UTSW 2 148703057 splice site probably null
R4377:Napb UTSW 2 148732264 critical splice donor site probably null
R4541:Napb UTSW 2 148709309 splice site probably benign
R4728:Napb UTSW 2 148709325 missense probably damaging 1.00
R5028:Napb UTSW 2 148703137 missense possibly damaging 0.90
R5982:Napb UTSW 2 148700491 splice site probably null
R6228:Napb UTSW 2 148698178 splice site probably null
R6944:Napb UTSW 2 148706969 missense probably benign
R6998:Napb UTSW 2 148700425 missense probably damaging 1.00
Posted On2013-06-21