Incidental Mutation 'IGL02636:Nipsnap2'
ID301535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipsnap2
Ensembl Gene ENSMUSG00000029432
Gene Namenipsnap homolog 2
SynonymsGbas, Nipsnap2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02636
Quality Score
Status
Chromosome5
Chromosomal Location129725063-129758327 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 129745290 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086046] [ENSMUST00000124342] [ENSMUST00000186265] [ENSMUST00000195946]
Predicted Effect probably benign
Transcript: ENSMUST00000086046
SMART Domains Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124342
SMART Domains Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186265
SMART Domains Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195946
SMART Domains Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Htr5a T C 5: 27,842,660 F71S probably damaging Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Klrb1c C A 6: 128,788,552 C25F probably benign Het
Lrguk C A 6: 34,090,188 T483K probably damaging Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nfkbia T C 12: 55,491,173 Q165R possibly damaging Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Rab26 T C 17: 24,533,559 S9G probably benign Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Nipsnap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Nipsnap2 APN 5 129754851 missense probably damaging 0.99
IGL01012:Nipsnap2 APN 5 129746439 missense possibly damaging 0.91
IGL01320:Nipsnap2 APN 5 129744764 missense probably damaging 1.00
IGL01321:Nipsnap2 APN 5 129757141 makesense probably null
IGL02119:Nipsnap2 APN 5 129747992 splice site probably benign
R0540:Nipsnap2 UTSW 5 129754845 missense probably damaging 1.00
R1497:Nipsnap2 UTSW 5 129753218 intron probably benign
R1649:Nipsnap2 UTSW 5 129753237 missense probably damaging 0.99
R1743:Nipsnap2 UTSW 5 129757085 missense probably damaging 1.00
R2020:Nipsnap2 UTSW 5 129753223 splice site probably null
R2187:Nipsnap2 UTSW 5 129746473 splice site probably null
R2215:Nipsnap2 UTSW 5 129739585 missense probably damaging 1.00
R2430:Nipsnap2 UTSW 5 129744791 missense possibly damaging 0.94
R3124:Nipsnap2 UTSW 5 129748034 critical splice donor site probably null
R5072:Nipsnap2 UTSW 5 129739580 missense probably damaging 1.00
R5150:Nipsnap2 UTSW 5 129757111 missense probably benign 0.03
R5823:Nipsnap2 UTSW 5 129739769 splice site probably null
R6736:Nipsnap2 UTSW 5 129745288 critical splice donor site probably null
R6913:Nipsnap2 UTSW 5 129753293 missense probably benign 0.11
R7163:Nipsnap2 UTSW 5 129744710 missense probably benign 0.00
R7597:Nipsnap2 UTSW 5 129739573 missense probably damaging 1.00
Posted On2015-04-16