|Institutional Source||Beutler Lab|
|Gene Name||Nedd4 family interacting protein 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.471)|
|Stock #||R1615 (G1)|
|Chromosomal Location||38418975-38464399 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 38460619 bp|
|Amino Acid Change||Proline to Serine at position 213 (P213S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025293 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025293]|
|Predicted Effect||probably benign
AA Change: P213S
PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: P213S
|Meta Mutation Damage Score||0.15|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
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'- GCCTCCAGATGTAAATGTGTGGTCC -3'
(R):5'- CATGCTATCAATGCCCTACCTCCAG -3'
(F):5'- TGAGACAAGTTAGATCCTGTGC -3'
(R):5'- ACTGAGACCCTTGCCTGTATG -3'