Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02442:Ndfip1'

293460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndfip1

Ensembl Gene

ENSMUSG00000024425

Gene Name

Nedd4 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

Chromosome

Chromosomal Location

38418975-38464399 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38447736 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16