Mutagenetix > Incidental Mutation

Incidental Mutation 'R5307:Nherf1'

404662

Institutional Source

Beutler Lab

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

MMRRC Submission

042890-MU

Accession Numbers

Essential gene?

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

Stock #

R5307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115054167-115072007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115054587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 79 (I79N)

Ref Sequence

ENSEMBL: ENSMUSP00000021077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]

AlphaFold

P70441

Predicted Effect

probably benign
Transcript: ENSMUST00000021076

SMART Domains

Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	31	194	9.38e-93	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000021077
AA Change: I79N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
AA Change: I79N

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: ENSMUST00000067754

SMART Domains

Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732

Domain	Start	End	E-Value	Type
RAB	23	187	1.27e-89	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,559,383 (GRCm39)	T264A	probably benign	Het
Arhgef17	C	G	7: 100,578,635 (GRCm39)	G771A	probably benign	Het
Atg2b	T	A	12: 105,624,588 (GRCm39)	D637V	probably benign	Het
Atp10b	A	G	11: 43,103,302 (GRCm39)	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,497,280 (GRCm39)	V342A	probably damaging	Het
Atp2a2	A	G	5: 122,599,810 (GRCm39)	I527T	probably benign	Het
Atr	T	A	9: 95,760,597 (GRCm39)	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683 (GRCm39)	D383E	probably benign	Het
Casq1	A	T	1: 172,046,983 (GRCm39)	L92Q	probably damaging	Het
Chd1	T	A	17: 15,952,832 (GRCm39)	Y371N	probably damaging	Het
Chd9	G	A	8: 91,723,777 (GRCm39)	A617T	probably damaging	Het
Cntrob	T	A	11: 69,205,576 (GRCm39)	R419S	possibly damaging	Het
Corin	C	A	5: 72,514,321 (GRCm39)	G318C	probably damaging	Het
Cpa3	A	G	3: 20,281,327 (GRCm39)		probably null	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,879,710 (GRCm39)	S493G	probably benign	Het
Ddc	A	G	11: 11,826,321 (GRCm39)	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,473,601 (GRCm39)	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,414,641 (GRCm39)	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,588,942 (GRCm39)	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099 (GRCm39)	E895G	probably damaging	Het
Ehhadh	A	C	16: 21,581,442 (GRCm39)	S517A	probably benign	Het
Ephb2	C	A	4: 136,421,098 (GRCm39)	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,361,574 (GRCm39)	T526A	probably damaging	Het
Fam222b	G	A	11: 78,044,594 (GRCm39)	V52I	probably damaging	Het
Galm	G	A	17: 80,452,416 (GRCm39)	W118*	probably null	Het
Galm	G	T	17: 80,452,417 (GRCm39)	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,921,367 (GRCm39)	N458D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gykl1	A	C	18: 52,827,723 (GRCm39)	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,405,403 (GRCm39)	V27G	probably damaging	Het
H2-T23	T	A	17: 36,343,108 (GRCm39)	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,164,877 (GRCm39)	E87G	unknown	Het
Hps3	G	A	3: 20,066,865 (GRCm39)	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,892,676 (GRCm39)	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,797,572 (GRCm39)	R117G	probably damaging	Het
Itgae	C	T	11: 73,036,464 (GRCm39)	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,281,098 (GRCm39)	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,148,472 (GRCm39)	T748I	probably damaging	Het
Lrig3	G	C	10: 125,842,559 (GRCm39)	D495H	probably damaging	Het
Mctp1	G	A	13: 76,860,198 (GRCm39)		probably null	Het
Mfsd3	T	A	15: 76,586,371 (GRCm39)	L168*	probably null	Het
Nlrp4d	C	A	7: 10,096,709 (GRCm39)	G921*	probably null	Het
Nsun4	G	A	4: 115,891,335 (GRCm39)	T348I	probably damaging	Het
Nucb1	T	C	7: 45,147,842 (GRCm39)	T246A	probably damaging	Het
Nynrin	A	C	14: 56,101,263 (GRCm39)	S311R	probably damaging	Het
Or4k37	T	A	2: 111,158,741 (GRCm39)		probably null	Het
Or5ar1	T	G	2: 85,671,358 (GRCm39)	Y259S	probably damaging	Het
Ovch2	C	A	7: 107,391,341 (GRCm39)	R303L	probably benign	Het
Pcsk9	A	G	4: 106,304,371 (GRCm39)	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,140,894 (GRCm39)	F859L	probably benign	Het
Pkd1l3	A	G	8: 110,367,424 (GRCm39)	D1207G	probably damaging	Het
Pnpla7	G	A	2: 24,911,964 (GRCm39)	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,270,256 (GRCm39)	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,078,757 (GRCm39)	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,432,899 (GRCm39)	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,956,653 (GRCm39)	N128K	probably damaging	Het
Slfn5	A	T	11: 82,847,211 (GRCm39)	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,628,553 (GRCm39)	I122T	possibly damaging	Het
Snx24	C	T	18: 53,473,283 (GRCm39)	Q76*	probably null	Het
Sspo	T	A	6: 48,431,784 (GRCm39)	H692Q	probably damaging	Het
Stxbp3	T	C	3: 108,701,114 (GRCm39)	D585G	probably damaging	Het
Svep1	T	C	4: 58,072,677 (GRCm39)	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,112,881 (GRCm39)		probably null	Het
Tnik	T	G	3: 28,596,121 (GRCm39)	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,745 (GRCm39)	H266L	probably damaging	Het
Ttn	G	T	2: 76,725,114 (GRCm39)	S2037*	probably null	Het
Tuba3a	G	A	6: 125,258,273 (GRCm39)	T239I	probably damaging	Het
Usp25	T	A	16: 76,890,594 (GRCm39)	D767E	probably benign	Het
Whrn	G	T	4: 63,350,080 (GRCm39)	H546N	probably benign	Het
Xirp2	C	T	2: 67,341,506 (GRCm39)	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,433,014 (GRCm39)	D333E	probably damaging	Het
Zfp689	T	G	7: 127,047,987 (GRCm39)	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	probably benign	Het

Other mutations in Nherf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Nherf1	APN	11	115,070,858 (GRCm39)	missense	probably benign	0.19
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
R7334:Nherf1	UTSW	11	115,054,593 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCCAAATGGCTACGGCTTCC -3'
(R):5'- CCGAGTCTCTCTAGAATCCTAGTC -3'

Sequencing Primer
(F):5'- AATGGCTACGGCTTCCACCTG -3'
(R):5'- ACCAAGTGGCTCTTTTCGG -3'

Posted On

2016-07-22