|Institutional Source||Beutler Lab|
|Gene Name||Nedd4 family interacting protein 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.471)|
|Stock #||IGL02835 (G1)|
|Chromosomal Location||38418975-38464399 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38456091 bp|
|Amino Acid Change||Tyrosine to Histidine at position 178 (Y178H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025293 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025293]|
|Predicted Effect||probably damaging
AA Change: Y178H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y178H
|Meta Mutation Damage Score||0.284|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
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||
|Other mutations in Ndfip1||
(F):5'- CCAAACTCTTCAGGCACCTG -3'
(R):5'- TATGCTACTCATATCAGCTAGCC -3'
(F):5'- CAGGCACCTGTGTGTGTATAC -3'
(R):5'- GCTACTCATATCAGCTAGCCATTAAG -3'