Incidental Mutation 'R0068:Napb'
ID17243
Institutional Source Beutler Lab
Gene Symbol Napb
Ensembl Gene ENSMUSG00000027438
Gene NameN-ethylmaleimide sensitive fusion protein attachment protein beta
SynonymsSNARE, Brp14, b-SNAP, E161, I47
MMRRC Submission 038359-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #R0068 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location148693985-148732467 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 148698923 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028926] [ENSMUST00000136513]
Predicted Effect probably benign
Transcript: ENSMUST00000028926
SMART Domains Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438

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
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 97.6%
  • 10x: 82.1%
  • 20x: 74.0%
Validation Efficiency 94% (83/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,952,221 T1675A probably benign Het
Abca9 T C 11: 110,145,579 N568S probably damaging Het
AC104834.1 A T 15: 101,054,248 I51N probably damaging Het
Aldoart2 G T 12: 55,565,448 E53* probably null Het
Ankra2 C T 13: 98,273,383 Q137* probably null Het
Arpc1a C T 5: 145,091,244 T21I possibly damaging Het
Arvcf T C 16: 18,396,954 probably benign Het
Ash1l C A 3: 89,007,317 S1751R probably benign Het
Bsn C A 9: 108,112,137 G2139C probably damaging Het
Cbl A T 9: 44,154,194 S22T probably damaging Het
Ccdc148 T C 2: 58,827,617 E530G probably benign Het
Cct3 A G 3: 88,318,465 D365G probably benign Het
Cep85 A T 4: 134,154,295 H332Q probably benign Het
Cwf19l1 A T 19: 44,131,499 Y68N probably damaging Het
Dlc1 T A 8: 36,937,721 M305L probably benign Het
Dnm1l C A 16: 16,324,019 G288C probably damaging Het
Exoc7 T C 11: 116,304,906 Y83C probably damaging Het
Flnb A G 14: 7,915,290 N1474D possibly damaging Het
Ghrhr C T 6: 55,380,864 probably benign Het
Gucy1b1 T C 3: 82,034,878 T525A probably benign Het
Hhip T G 8: 79,989,256 D557A probably damaging Het
Hps5 A G 7: 46,777,042 probably benign Het
Igsf10 A T 3: 59,330,624 V712D probably damaging Het
Irf6 G T 1: 193,165,759 probably benign Het
Itpr3 T C 17: 27,104,060 probably benign Het
Jag2 A G 12: 112,915,193 probably benign Het
Kansl1l A G 1: 66,720,888 V911A probably benign Het
Kdm3b C T 18: 34,824,774 T1064I probably benign Het
Lrriq1 T A 10: 103,063,418 Q1654L probably benign Het
Ltbp1 A G 17: 75,359,409 T1366A probably damaging Het
Mroh1 A G 15: 76,446,692 probably benign Het
Nebl T A 2: 17,434,971 R164* probably null Het
Npc1 G C 18: 12,208,367 P532A probably benign Het
Nrp2 G T 1: 62,745,377 K228N possibly damaging Het
Olfr275 T A 4: 52,825,503 Y35* probably null Het
Plekhg1 A T 10: 3,940,502 Y386F probably damaging Het
Pmfbp1 G C 8: 109,542,379 probably benign Het
Poln T C 5: 34,077,088 probably benign Het
Polr1c A G 17: 46,244,903 V200A probably benign Het
Ppil1 A T 17: 29,252,256 F92I probably damaging Het
Ptchd3 T G 11: 121,842,972 L896R probably damaging Het
Rev3l A G 10: 39,824,831 N1775D possibly damaging Het
Robo4 G A 9: 37,404,477 R342Q probably benign Het
Rusc2 T C 4: 43,424,100 probably benign Het
S100pbp T C 4: 129,144,456 probably benign Het
Slc25a48 T C 13: 56,451,211 V118A probably damaging Het
Slc38a10 T C 11: 120,134,853 D219G probably damaging Het
Slc38a2 C T 15: 96,691,292 probably null Het
Slc39a12 A G 2: 14,435,678 E480G probably benign Het
Tab2 C A 10: 7,919,677 R347L probably damaging Het
Tas2r123 T C 6: 132,847,992 I284T possibly damaging Het
Tex9 A G 9: 72,486,769 probably benign Het
Tifab A G 13: 56,176,405 L75P probably damaging Het
Tmc5 T A 7: 118,634,237 D91E probably benign Het
Tnks1bp1 T A 2: 85,062,352 D212E probably benign Het
Ugcg A G 4: 59,217,130 D218G probably benign Het
Zfp451 A T 1: 33,777,625 L198I probably damaging Het
Other mutations in Napb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Napb APN 2 148707169 missense probably damaging 0.97
IGL02987:Napb APN 2 148697511 splice site probably null
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 On2013-01-20