Incidental Mutation 'R6944:Napb'
ID 540753
Institutional Source Beutler Lab
Gene Symbol Napb
Ensembl Gene ENSMUSG00000027438
Gene Name N-ethylmaleimide sensitive fusion protein attachment protein beta
Synonyms I47, E161, Brp14, SNARE, b-SNAP
MMRRC Submission 045058-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6944 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 148535905-148574387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148548889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000028926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028926] [ENSMUST00000136513]
AlphaFold P28663
Predicted Effect probably benign
Transcript: ENSMUST00000028926
AA Change: T133A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
AA Change: T133A

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
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (75/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,863,693 (GRCm39) V216G probably damaging Het
Abcb5 T C 12: 118,875,265 (GRCm39) R636G probably benign Het
Ago1 G T 4: 126,354,215 (GRCm39) F198L possibly damaging Het
Ankrd42 C T 7: 92,268,755 (GRCm39) probably null Het
Anxa11 T A 14: 25,875,176 (GRCm39) F274I probably damaging Het
Ascc1 T C 10: 59,849,475 (GRCm39) L122P probably damaging Het
Bptf T C 11: 106,971,649 (GRCm39) S953G probably damaging Het
Chml T A 1: 175,515,727 (GRCm39) N65Y probably damaging Het
Clcc1 A G 3: 108,578,284 (GRCm39) K262E probably damaging Het
Clhc1 T G 11: 29,519,346 (GRCm39) D384E probably damaging Het
Cnot2 G A 10: 116,373,128 (GRCm39) probably benign Het
Cntnap1 T C 11: 101,073,730 (GRCm39) V627A probably damaging Het
Col6a4 A G 9: 105,949,370 (GRCm39) V755A probably damaging Het
Cyp4f18 T A 8: 72,743,738 (GRCm39) I406F probably benign Het
Dclre1a T C 19: 56,533,451 (GRCm39) E381G possibly damaging Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Dnah8 C A 17: 31,013,633 (GRCm39) D3791E probably benign Het
Dnah9 T C 11: 65,975,975 (GRCm39) E1358G possibly damaging Het
Eef1g G A 19: 8,945,656 (GRCm39) R30H probably benign Het
Egln3 A T 12: 54,230,738 (GRCm39) I181N probably benign Het
Entpd6 A G 2: 150,605,519 (GRCm39) T250A probably damaging Het
Epb41l5 C T 1: 119,536,859 (GRCm39) R344Q probably damaging Het
Fam20b T C 1: 156,515,091 (GRCm39) D258G probably benign Het
Fbxw18 A T 9: 109,531,655 (GRCm39) D21E probably damaging Het
Fbxw21 T C 9: 108,986,603 (GRCm39) E92G probably damaging Het
Fzd6 T A 15: 38,889,212 (GRCm39) M110K possibly damaging Het
Golgb1 C T 16: 36,732,475 (GRCm39) P574L probably benign Het
Gpr153 A G 4: 152,363,820 (GRCm39) E80G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Kcnt1 T C 2: 25,767,840 (GRCm39) probably benign Het
Kcnt2 T G 1: 140,511,803 (GRCm39) V962G probably benign Het
Malt1 T C 18: 65,570,991 (GRCm39) V109A probably benign Het
Marchf7 A G 2: 60,064,587 (GRCm39) I288V probably benign Het
Mief1 C T 15: 80,133,644 (GRCm39) R234C probably damaging Het
Morc3 A G 16: 93,667,460 (GRCm39) S613G probably benign Het
Myt1 A G 2: 181,439,387 (GRCm39) E345G possibly damaging Het
Nwd1 T C 8: 73,380,162 (GRCm39) V16A possibly damaging Het
Oas1f G A 5: 120,986,247 (GRCm39) E67K probably benign Het
Obscn T C 11: 58,929,756 (GRCm39) K5153R probably damaging Het
Or2w3b T A 11: 58,623,068 (GRCm39) S308C possibly damaging Het
Or5a3 G T 19: 12,400,628 (GRCm39) M318I probably benign Het
Or5g26 C T 2: 85,494,195 (GRCm39) M194I probably benign Het
Or6d12 T C 6: 116,492,791 (GRCm39) F18L possibly damaging Het
Pdcd2 T C 17: 15,745,632 (GRCm39) N185S possibly damaging Het
Pgap1 A T 1: 54,569,320 (GRCm39) W349R probably damaging Het
Prpf39 T A 12: 65,089,454 (GRCm39) V64E probably benign Het
Ptpn13 T A 5: 103,624,857 (GRCm39) W54R probably null Het
Rbms3 G T 9: 116,939,173 (GRCm39) P29Q probably damaging Het
Rnf123 A G 9: 107,940,822 (GRCm39) L679P probably benign Het
Samd4 T A 14: 47,254,092 (GRCm39) D84E possibly damaging Het
Scarf1 T C 11: 75,413,032 (GRCm39) V426A probably benign Het
Slc12a1 A G 2: 125,002,454 (GRCm39) N145D probably damaging Het
Slc2a6 A T 2: 26,916,076 (GRCm39) M99K probably damaging Het
Slc34a2 A T 5: 53,222,225 (GRCm39) I306L probably benign Het
Slx4ip A G 2: 136,910,195 (GRCm39) K397E probably damaging Het
Smr3a C T 5: 88,155,949 (GRCm39) probably benign Het
Spata31h1 A C 10: 82,132,056 (GRCm39) I318R probably benign Het
Spef2 T C 15: 9,592,835 (GRCm39) E1502G probably damaging Het
Sri A T 5: 8,113,365 (GRCm39) T119S probably benign Het
Synrg T A 11: 83,915,912 (GRCm39) L1085H probably damaging Het
Taf7 A T 18: 37,775,910 (GRCm39) L219H probably damaging Het
Tmco3 T A 8: 13,353,729 (GRCm39) V347E probably damaging Het
Tmem8b A T 4: 43,674,465 (GRCm39) I250F probably damaging Het
Tom1l2 A G 11: 60,139,817 (GRCm39) V239A probably damaging Het
Trpm1 T A 7: 63,893,181 (GRCm39) M1011K probably damaging Het
Tspan9 A T 6: 127,942,769 (GRCm39) Y153N probably benign Het
Ttll11 T C 2: 35,642,306 (GRCm39) H675R probably benign Het
Unc50 C T 1: 37,471,743 (GRCm39) T131M probably damaging Het
Vgf T A 5: 137,061,206 (GRCm39) I456N probably damaging Het
Vmn1r223 A G 13: 23,433,483 (GRCm39) I26V unknown Het
Vmn1r39 T C 6: 66,782,205 (GRCm39) M1V probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r14 T C 5: 109,363,925 (GRCm39) T664A probably benign Het
Vmn2r14 G A 5: 109,364,140 (GRCm39) T592I probably benign Het
Vmn2r96 T A 17: 18,817,891 (GRCm39) F489L probably benign Het
Vmn2r-ps158 T C 7: 42,697,393 (GRCm39) F817L possibly damaging Het
Other mutations in Napb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Napb APN 2 148,549,089 (GRCm39) missense probably damaging 0.97
IGL02987:Napb APN 2 148,539,431 (GRCm39) splice site probably null
R0068:Napb UTSW 2 148,540,843 (GRCm39) splice site probably benign
R0068:Napb UTSW 2 148,540,843 (GRCm39) splice site probably benign
R1218:Napb UTSW 2 148,542,345 (GRCm39) missense probably damaging 1.00
R1851:Napb UTSW 2 148,548,909 (GRCm39) missense probably benign 0.01
R3508:Napb UTSW 2 148,540,880 (GRCm39) missense probably benign
R3689:Napb UTSW 2 148,544,977 (GRCm39) splice site probably null
R3691:Napb UTSW 2 148,544,977 (GRCm39) splice site probably null
R4377:Napb UTSW 2 148,574,184 (GRCm39) critical splice donor site probably null
R4541:Napb UTSW 2 148,551,229 (GRCm39) splice site probably benign
R4728:Napb UTSW 2 148,551,245 (GRCm39) missense probably damaging 1.00
R5028:Napb UTSW 2 148,545,057 (GRCm39) missense possibly damaging 0.90
R5982:Napb UTSW 2 148,542,411 (GRCm39) splice site probably null
R6228:Napb UTSW 2 148,540,098 (GRCm39) splice site probably null
R6998:Napb UTSW 2 148,542,345 (GRCm39) missense probably damaging 1.00
R8113:Napb UTSW 2 148,551,351 (GRCm39) missense possibly damaging 0.69
R8705:Napb UTSW 2 148,542,396 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CCAACAACAGGTGAGCTAGG -3'
(R):5'- GCAGCCATCGACATTTACACAG -3'

Sequencing Primer
(F):5'- TAGGTGACTCTGAGGCAGTCC -3'
(R):5'- CATGGTAAGACATGGCATTGC -3'
Posted On 2018-11-28