Incidental Mutation 'IGL01938:Nipsnap1'
ID180744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipsnap1
Ensembl Gene ENSMUSG00000034285
Gene Namenipsnap homolog 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #IGL01938
Quality Score
Status
Chromosome11
Chromosomal Location4873951-4894200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4893134 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 269 (H269Y)
Ref Sequence ENSEMBL: ENSMUSP00000049338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000038570] [ENSMUST00000101615] [ENSMUST00000136552] [ENSMUST00000139737]
Predicted Effect probably benign
Transcript: ENSMUST00000038237
SMART Domains Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274

DomainStartEndE-ValueType
Pfam:FimP 97 452 1.1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038570
AA Change: H269Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: H269Y

DomainStartEndE-ValueType
Pfam:NIPSNAP 185 282 2.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101615
SMART Domains Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274

DomainStartEndE-ValueType
low complexity region 34 41 N/A INTRINSIC
Pfam:FimP 48 405 7.5e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136552
Predicted Effect probably benign
Transcript: ENSMUST00000139737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183479
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. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele treated with nocistatin fail to exhibit suppression of neuropeptide nociceptin/orphanin FQ-induced tactile allodynia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 87,971,708 T108I probably damaging Het
Adam34 A G 8: 43,651,016 Y531H probably damaging Het
Arhgef10 T A 8: 14,991,062 N1077K probably benign Het
BC034090 G T 1: 155,232,592 probably null Het
C87499 A G 4: 88,629,363 S24P possibly damaging Het
Cachd1 A G 4: 100,974,128 I706V possibly damaging Het
Cebpz A T 17: 78,934,961 C421* probably null Het
Celsr3 T C 9: 108,828,415 V699A probably benign Het
Col5a1 A G 2: 27,996,873 N935S unknown Het
Dnah1 C T 14: 31,283,887 V2312I probably benign Het
Ebf3 T C 7: 137,309,318 T156A probably damaging Het
Ern1 A G 11: 106,411,657 V457A probably benign Het
Fam129a A G 1: 151,689,614 T232A probably benign Het
Flii T C 11: 60,715,116 Y1177C probably damaging Het
Fryl T A 5: 73,122,364 K197M probably damaging Het
Glb1l3 A G 9: 26,818,529 F515S probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Kif26b T C 1: 178,916,038 I1233T probably damaging Het
Kptn A G 7: 16,124,789 Y286C probably damaging Het
Lyst A G 13: 13,637,424 N807S possibly damaging Het
Mki67 C T 7: 135,694,330 V2992M probably benign Het
Myocd A G 11: 65,187,088 L627P probably damaging Het
Neto2 A G 8: 85,690,855 I40T probably benign Het
Nlrp4g G A 9: 124,349,068 noncoding transcript Het
Nup188 A T 2: 30,329,359 R862S probably benign Het
Olfr1 T A 11: 73,395,645 I126F probably damaging Het
Olfr1253 G T 2: 89,752,348 A160D probably benign Het
Olfr820 T A 10: 130,018,112 Y250* probably null Het
Pde4c A T 8: 70,749,378 K549N probably damaging Het
Pkd1l3 A G 8: 109,635,301 T992A probably benign Het
Smyd2 A G 1: 189,888,882 V213A probably benign Het
Sult1c2 C T 17: 53,831,926 V208M probably damaging Het
Ush2a T C 1: 188,797,845 L3277P probably damaging Het
Wdr72 T C 9: 74,148,774 V304A probably benign Het
Xrra1 T C 7: 99,879,469 probably null Het
Zscan29 C T 2: 121,166,209 A344T probably benign Het
Other mutations in Nipsnap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Nipsnap1 APN 11 4889098 missense possibly damaging 0.77
IGL01552:Nipsnap1 APN 11 4889124 missense probably damaging 1.00
IGL01744:Nipsnap1 APN 11 4889912 missense probably damaging 1.00
IGL03328:Nipsnap1 APN 11 4884096 missense possibly damaging 0.89
R0355:Nipsnap1 UTSW 11 4889957 missense probably damaging 1.00
R1126:Nipsnap1 UTSW 11 4884081 missense probably benign 0.01
R1815:Nipsnap1 UTSW 11 4889101 missense probably damaging 1.00
R2129:Nipsnap1 UTSW 11 4888932 missense probably benign 0.04
R2205:Nipsnap1 UTSW 11 4889974 missense possibly damaging 0.95
R4852:Nipsnap1 UTSW 11 4891468 nonsense probably null
R5776:Nipsnap1 UTSW 11 4888919 missense probably benign 0.00
R6073:Nipsnap1 UTSW 11 4888895 missense possibly damaging 0.86
R7122:Nipsnap1 UTSW 11 4883366 critical splice acceptor site probably null
R7263:Nipsnap1 UTSW 11 4882960 unclassified probably benign
R7538:Nipsnap1 UTSW 11 4884089 missense probably damaging 1.00
R7947:Nipsnap1 UTSW 11 4889145 missense possibly damaging 0.64
R8166:Nipsnap1 UTSW 11 4884057 missense probably benign 0.00
X0011:Nipsnap1 UTSW 11 4874069 missense probably benign
Z1177:Nipsnap1 UTSW 11 4889956 nonsense probably null
Posted On2014-05-07