Incidental Mutation 'IGL01552:Nipsnap1'
ID90604
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: 0.275) question?
Stock #IGL01552
Quality Score
Status
Chromosome11
Chromosomal Location4873951-4894200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4889124 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 135 (S135C)
Ref Sequence ENSEMBL: ENSMUSP00000122885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038570] [ENSMUST00000136552] [ENSMUST00000139737]
Predicted Effect probably damaging
Transcript: ENSMUST00000038570
AA Change: S156C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: S156C

DomainStartEndE-ValueType
Pfam:NIPSNAP 185 282 2.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135405
Predicted Effect probably benign
Transcript: ENSMUST00000136552
Predicted Effect probably damaging
Transcript: ENSMUST00000139737
AA Change: S135C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably damaging Het
Other mutations in Nipsnap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Nipsnap1 APN 11 4889098 missense possibly damaging 0.77
IGL01744:Nipsnap1 APN 11 4889912 missense probably damaging 1.00
IGL01938:Nipsnap1 APN 11 4893134 missense probably benign 0.00
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 On2013-12-09