Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02340:Nherf1'

289022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nherf1

Ensembl Gene

ENSMUSG00000020733

Gene Name

NHERF family PDZ scaffold protein 1

Synonyms

Slc9a3r1, sodium-hydrogen exchanger regulatory factor, NHERF1, NHE-RF, EBP-50

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL02340

Quality Score

Status

Chromosome

Chromosomal Location

115054167-115072007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115070858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 270 (E270G)

Ref Sequence

ENSEMBL: ENSMUSP00000021077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021077] [ENSMUST00000103038] [ENSMUST00000103039] [ENSMUST00000103040] [ENSMUST00000103041]

AlphaFold

P70441

Predicted Effect

probably benign
Transcript: ENSMUST00000021077
AA Change: E270G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
AA Change: E270G

Domain	Start	End	E-Value	Type
PDZ	22	94	2.9e-20	SMART
PDZ	157	229	6.03e-18	SMART
Pfam:EBP50_C	230	355	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103038

SMART Domains

Protein: ENSMUSP00000099327
Gene: ENSMUSG00000015542

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_3	13	161	1.4e-28	PFAM
Pfam:Acetyltransf_1	57	161	4.3e-10	PFAM
Pfam:FR47	86	169	2.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103039

SMART Domains

Protein: ENSMUSP00000099328
Gene: ENSMUSG00000015542

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_3	13	161	9e-29	PFAM
Pfam:Acetyltransf_1	81	161	2.8e-10	PFAM
Pfam:FR47	86	169	2.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103040

SMART Domains

Protein: ENSMUSP00000099329
Gene: ENSMUSG00000015542

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_3	13	161	1.4e-28	PFAM
Pfam:Acetyltransf_1	57	161	4.3e-10	PFAM
Pfam:FR47	86	169	2.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103041

SMART Domains

Protein: ENSMUSP00000099330
Gene: ENSMUSG00000015542

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_3	13	161	1.4e-28	PFAM
Pfam:Acetyltransf_1	57	161	4.3e-10	PFAM
Pfam:FR47	86	169	2.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153796

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 sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]
PHENOTYPE: For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	A	7: 27,328,824 (GRCm39)	I182N	probably damaging	Het
Alpk3	A	G	7: 80,728,255 (GRCm39)	T462A	probably benign	Het
Amz1	A	G	5: 140,738,014 (GRCm39)	R425G	probably damaging	Het
Aoc2	A	G	11: 101,217,201 (GRCm39)	E428G	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Chchd6	A	T	6: 89,396,762 (GRCm39)	H216Q	probably damaging	Het
Chl1	A	G	6: 103,675,086 (GRCm39)	Y591C	probably damaging	Het
Cln8	T	C	8: 14,945,178 (GRCm39)	L164S	probably damaging	Het
Dscaml1	T	C	9: 45,581,474 (GRCm39)	I431T	possibly damaging	Het
Fam234b	T	C	6: 135,208,659 (GRCm39)	L524P	probably damaging	Het
Fmo1	T	C	1: 162,660,559 (GRCm39)	N410S	probably benign	Het
Ftsj3	G	A	11: 106,143,972 (GRCm39)	R251*	probably null	Het
Greb1l	A	T	18: 10,515,200 (GRCm39)	D555V	probably damaging	Het
Hcar1	G	T	5: 124,017,135 (GRCm39)	H185Q	probably damaging	Het
Kcnj12	G	A	11: 60,960,319 (GRCm39)	V206I	probably benign	Het
Lamc3	G	A	2: 31,808,469 (GRCm39)	G742S	probably damaging	Het
Lipg	T	C	18: 75,093,946 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,839,729 (GRCm39)		probably null	Het
Mcm3ap	T	G	10: 76,332,386 (GRCm39)	Y1234*	probably null	Het
Myh6	T	A	14: 55,194,612 (GRCm39)	D719V	possibly damaging	Het
Myo9b	A	G	8: 71,743,689 (GRCm39)	N250S	probably damaging	Het
Notch2	G	A	3: 98,054,652 (GRCm39)	W2438*	probably null	Het
Nphp1	G	A	2: 127,621,987 (GRCm39)	Q47*	probably null	Het
Nptx2	T	C	5: 144,493,056 (GRCm39)	L381P	probably damaging	Het
Nrxn3	A	G	12: 90,171,402 (GRCm39)	N911S	possibly damaging	Het
Or10j2	A	T	1: 173,097,972 (GRCm39)	I77F	probably benign	Het
Or5d46	T	C	2: 88,169,906 (GRCm39)		probably benign	Het
P4ha1	T	A	10: 59,188,023 (GRCm39)	F260Y	probably benign	Het
Pitpnm2	T	C	5: 124,268,676 (GRCm39)	D504G	probably damaging	Het
Prss54	A	G	8: 96,292,237 (GRCm39)	V114A	probably benign	Het
Ptprc	G	A	1: 137,998,957 (GRCm39)	T1031M	probably damaging	Het
Rtf2	T	C	2: 172,310,511 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,777,349 (GRCm39)		probably benign	Het
Slc14a2	C	T	18: 78,206,341 (GRCm39)	E492K	probably damaging	Het
Stab1	G	T	14: 30,862,367 (GRCm39)	N2322K	probably damaging	Het
Thsd7b	A	G	1: 130,087,369 (GRCm39)	N1162S	probably benign	Het
Tmprss11b	T	C	5: 86,810,090 (GRCm39)	I297V	probably benign	Het
Tnn	T	C	1: 159,972,775 (GRCm39)	N276D	probably benign	Het
Trhde	A	T	10: 114,428,118 (GRCm39)		probably benign	Het
Vmn1r115	T	A	7: 20,578,453 (GRCm39)	H153L	possibly damaging	Het
Vmn1r203	T	A	13: 22,708,997 (GRCm39)	C259*	probably null	Het
Xpot	T	A	10: 121,451,109 (GRCm39)	E97V	probably damaging	Het
Zbtb2	T	C	10: 4,318,712 (GRCm39)	D438G	probably damaging	Het

Other mutations in Nherf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Nherf1	APN	11	115,054,539 (GRCm39)	splice site	probably null
IGL02712:Nherf1	APN	11	115,068,060 (GRCm39)	missense	possibly damaging	0.51
R2129:Nherf1	UTSW	11	115,067,270 (GRCm39)	missense	probably damaging	1.00
R2366:Nherf1	UTSW	11	115,054,454 (GRCm39)	missense	probably benign	0.01
R2939:Nherf1	UTSW	11	115,071,270 (GRCm39)	missense	probably damaging	1.00
R4820:Nherf1	UTSW	11	115,070,918 (GRCm39)	missense	probably benign	0.01
R4960:Nherf1	UTSW	11	115,067,289 (GRCm39)	missense	probably benign
R5307:Nherf1	UTSW	11	115,054,587 (GRCm39)	missense	probably damaging	1.00
R7334:Nherf1	UTSW	11	115,054,593 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16