Incidental Mutation 'IGL02442:Ndfip1'
ID293460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndfip1
Ensembl Gene ENSMUSG00000024425
Gene NameNedd4 family interacting protein 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.471) question?
Stock #IGL02442
Quality Score
Status
Chromosome18
Chromosomal Location38418975-38464399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38447736 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 66 (S66L)
Ref Sequence ENSEMBL: ENSMUSP00000025293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025293]
Predicted Effect probably damaging
Transcript: ENSMUST00000025293
AA Change: S66L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025293
Gene: ENSMUSG00000024425
AA Change: S66L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:DUF2370 54 170 1.3e-11 PFAM
transmembrane domain 178 197 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.] The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele develop severe inflammation of the skin and lung due to T-cell hyperactivation and abnormal T-helper 2 physiology, and die prematurely. Mice homozygous for a null allele exhibit hypersensitivity of dopaminergic neurons to iron toxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 V116A probably benign Het
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csde1 T C 3: 103,054,819 C649R probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Matn3 T A 12: 8,967,678 C443* probably null Het
Mup8 T A 4: 60,219,695 R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Sri T A 5: 8,062,411 M78K probably damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in Ndfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02994:Ndfip1 APN 18 38452416 missense probably damaging 0.97
IGL02835:Ndfip1 UTSW 18 38456091 missense probably damaging 1.00
R1615:Ndfip1 UTSW 18 38460619 missense probably benign 0.26
R4811:Ndfip1 UTSW 18 38451592 missense probably benign 0.14
R8716:Ndfip1 UTSW 18 38452331 missense probably damaging 1.00
Posted On2015-04-16