Incidental Mutation 'IGL03032:Nipsnap3b'
ID 408490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipsnap3b
Ensembl Gene ENSMUSG00000015247
Gene Name nipsnap homolog 3B
Synonyms 2700063N13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03032
Quality Score
Status
Chromosome 4
Chromosomal Location 53011932-53022060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53015016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 21 (V21E)
Ref Sequence ENSEMBL: ENSMUSP00000103292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015391] [ENSMUST00000107665]
AlphaFold Q9CQE1
Predicted Effect probably benign
Transcript: ENSMUST00000015391
AA Change: V21E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000015391
Gene: ENSMUSG00000015247
AA Change: V21E

DomainStartEndE-ValueType
Pfam:NIPSNAP 37 136 1.5e-32 PFAM
Pfam:NIPSNAP 146 245 5.5e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107665
AA Change: V21E

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103292
Gene: ENSMUSG00000015247
AA Change: V21E

DomainStartEndE-ValueType
Pfam:NIPSNAP 37 136 2.2e-30 PFAM
Pfam:NIPSNAP 134 195 8.5e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,119,774 (GRCm39) Y177F possibly damaging Het
Als2 C A 1: 59,255,189 (GRCm39) probably benign Het
Arhgap44 A G 11: 64,915,038 (GRCm39) L410P probably damaging Het
Atp13a2 C T 4: 140,727,666 (GRCm39) A481V possibly damaging Het
Bod1l C A 5: 41,988,927 (GRCm39) L393F probably benign Het
Cflar T A 1: 58,780,179 (GRCm39) I258N probably damaging Het
Col24a1 T C 3: 145,244,458 (GRCm39) probably null Het
Csmd2 A T 4: 128,412,834 (GRCm39) N2542I probably benign Het
Cyp2b9 T C 7: 25,898,025 (GRCm39) probably benign Het
Dip2c A T 13: 9,601,814 (GRCm39) I258F probably damaging Het
Dock7 A G 4: 98,854,585 (GRCm39) S1560P probably benign Het
Drc7 C T 8: 95,802,875 (GRCm39) probably benign Het
Gm3667 T A 14: 18,269,522 (GRCm39) S203C probably null Het
Gramd2a A G 9: 59,619,410 (GRCm39) E190G probably benign Het
Gstm4 T C 3: 107,951,263 (GRCm39) D8G probably damaging Het
Heatr5b A T 17: 79,067,928 (GRCm39) M1820K probably benign Het
Irs4 A G X: 140,505,794 (GRCm39) Y801H unknown Het
Loxhd1 C T 18: 77,374,169 (GRCm39) T80I possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Mapk8ip1 T G 2: 92,216,958 (GRCm39) K446Q probably damaging Het
Mettl21e C A 1: 44,249,319 (GRCm39) probably null Het
Mmp8 T A 9: 7,558,530 (GRCm39) probably benign Het
Muc19 A T 15: 91,808,424 (GRCm39) noncoding transcript Het
Or1j15 C A 2: 36,458,716 (GRCm39) Y35* probably null Het
Or5al6 A G 2: 85,977,043 (GRCm39) F12L probably damaging Het
Or7a38 A T 10: 78,753,471 (GRCm39) I266F probably benign Het
Parp12 G A 6: 39,064,520 (GRCm39) probably null Het
Pramel14 C A 4: 143,719,815 (GRCm39) L183F probably damaging Het
Rgsl1 T A 1: 153,701,948 (GRCm39) T169S possibly damaging Het
Rnf38 T C 4: 44,152,529 (GRCm39) R12G probably damaging Het
Slc9c1 T C 16: 45,363,624 (GRCm39) probably benign Het
Slpi T C 2: 164,197,367 (GRCm39) probably benign Het
Snx17 G A 5: 31,353,355 (GRCm39) V165I probably benign Het
Tnfaip3 A G 10: 18,880,357 (GRCm39) V570A probably benign Het
Vmn1r63 A G 7: 5,806,350 (GRCm39) M94T probably benign Het
Vmn2r95 A G 17: 18,672,575 (GRCm39) I771V probably benign Het
Wiz A G 17: 32,575,532 (GRCm39) V868A probably benign Het
Other mutations in Nipsnap3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0008:Nipsnap3b UTSW 4 53,015,112 (GRCm39) missense probably damaging 1.00
R0008:Nipsnap3b UTSW 4 53,015,112 (GRCm39) missense probably damaging 1.00
R0148:Nipsnap3b UTSW 4 53,017,088 (GRCm39) missense possibly damaging 0.56
R0518:Nipsnap3b UTSW 4 53,021,343 (GRCm39) missense probably damaging 0.99
R1261:Nipsnap3b UTSW 4 53,015,166 (GRCm39) missense probably damaging 1.00
R1262:Nipsnap3b UTSW 4 53,015,166 (GRCm39) missense probably damaging 1.00
R1954:Nipsnap3b UTSW 4 53,017,213 (GRCm39) splice site probably benign
R5861:Nipsnap3b UTSW 4 53,021,177 (GRCm39) missense probably damaging 1.00
R6213:Nipsnap3b UTSW 4 53,017,066 (GRCm39) missense probably benign 0.01
R6950:Nipsnap3b UTSW 4 53,015,136 (GRCm39) missense possibly damaging 0.90
R7076:Nipsnap3b UTSW 4 53,021,095 (GRCm39) splice site probably null
R8397:Nipsnap3b UTSW 4 53,012,049 (GRCm39) critical splice donor site probably null
R9125:Nipsnap3b UTSW 4 53,021,177 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02