Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01299:Slc9a3'

75208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 3

Synonyms

NHE3, NHE-3, 9030624O13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01299

Quality Score

Status

Chromosome

Chromosomal Location

74269576-74317561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74308382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 462 (R462G)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]

AlphaFold

G3X939

Predicted Effect

probably benign
Transcript: ENSMUST00000036208
AA Change: R462G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: R462G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_H_Exchanger	53	457	3.6e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221703
AA Change: R462G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423
AA Change: R462G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

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 is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,248,743 (GRCm39)	T2830I	probably benign	Het
Akap1	C	T	11: 88,735,080 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Cox6b1	G	A	7: 30,316,553 (GRCm39)	T81I	possibly damaging	Het
Creb1	T	C	1: 64,609,284 (GRCm39)		probably benign	Het
Cyp4f40	G	T	17: 32,886,948 (GRCm39)	A140S	probably benign	Het
Dus4l	A	G	12: 31,690,823 (GRCm39)	M276T	probably benign	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Fmo2	A	T	1: 162,705,599 (GRCm39)	N413K	probably benign	Het
Gabrp	T	C	11: 33,504,476 (GRCm39)	T280A	probably damaging	Het
Golph3l	A	G	3: 95,524,588 (GRCm39)	T217A	possibly damaging	Het
Mtr	T	C	13: 12,240,536 (GRCm39)		probably benign	Het
Nbea	T	G	3: 55,598,315 (GRCm39)	D2398A	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Phyh	T	A	2: 4,935,604 (GRCm39)	W193R	probably null	Het
Rab36	A	G	10: 74,884,298 (GRCm39)	Q82R	probably damaging	Het
Ranbp2	T	C	10: 58,328,639 (GRCm39)	V2846A	probably damaging	Het
Rprd2	G	A	3: 95,683,859 (GRCm39)	S374L	probably damaging	Het
Slitrk3	T	C	3: 72,956,349 (GRCm39)	N808D	probably benign	Het
Tbck	A	T	3: 132,430,638 (GRCm39)	I345F	probably damaging	Het
Tor2a	T	A	2: 32,649,558 (GRCm39)	V146D	probably damaging	Het
Trpc6	C	A	9: 8,653,062 (GRCm39)	Q623K	probably damaging	Het
Ube2q1	A	G	3: 89,688,681 (GRCm39)	S192G	probably damaging	Het
Vnn1	T	A	10: 23,770,949 (GRCm39)	L59Q	probably damaging	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74,308,421 (GRCm39)	missense	probably benign	0.19
IGL01390:Slc9a3	APN	13	74,298,880 (GRCm39)	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74,314,091 (GRCm39)	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74,306,967 (GRCm39)	missense	probably damaging	0.99
IGL02072:Slc9a3	APN	13	74,313,978 (GRCm39)	missense	probably benign	0.00
IGL02186:Slc9a3	APN	13	74,311,233 (GRCm39)	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74,313,476 (GRCm39)	nonsense	probably null
IGL03056:Slc9a3	APN	13	74,298,938 (GRCm39)	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74,306,847 (GRCm39)	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74,307,543 (GRCm39)	missense	probably damaging	1.00
R0359:Slc9a3	UTSW	13	74,305,726 (GRCm39)	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74,269,655 (GRCm39)	missense	unknown
R0396:Slc9a3	UTSW	13	74,305,903 (GRCm39)	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74,307,365 (GRCm39)	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74,298,862 (GRCm39)	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74,306,937 (GRCm39)	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74,311,190 (GRCm39)	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74,309,889 (GRCm39)	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74,314,175 (GRCm39)	splice site	probably null
R2048:Slc9a3	UTSW	13	74,311,860 (GRCm39)	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74,269,722 (GRCm39)	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74,306,822 (GRCm39)	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74,306,879 (GRCm39)	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74,269,788 (GRCm39)	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74,309,851 (GRCm39)	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74,307,005 (GRCm39)	nonsense	probably null
R4581:Slc9a3	UTSW	13	74,312,284 (GRCm39)	missense	probably damaging	0.99
R4841:Slc9a3	UTSW	13	74,313,956 (GRCm39)	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74,305,838 (GRCm39)	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74,312,412 (GRCm39)	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74,312,406 (GRCm39)	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74,299,079 (GRCm39)	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74,311,831 (GRCm39)	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74,309,842 (GRCm39)	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74,306,859 (GRCm39)	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74,303,280 (GRCm39)	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74,312,291 (GRCm39)	missense	probably damaging	0.99
R7145:Slc9a3	UTSW	13	74,298,797 (GRCm39)	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74,305,813 (GRCm39)	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74,308,395 (GRCm39)	missense	possibly damaging	0.88
R8032:Slc9a3	UTSW	13	74,305,763 (GRCm39)	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74,314,146 (GRCm39)	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74,303,241 (GRCm39)	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74,312,407 (GRCm39)	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74,305,823 (GRCm39)	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74,311,895 (GRCm39)	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74,298,920 (GRCm39)	missense	probably damaging	1.00
R9741:Slc9a3	UTSW	13	74,306,994 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74,313,975 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07