Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02072:Slc9a3'

185865

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

9030624O13Rik, NHE-3, NHE3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02072

Quality Score

Status

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74165859 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 762 (I762T)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]

Predicted Effect

probably benign
Transcript: ENSMUST00000035934

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

Domain	Start	End	E-Value	Type
Pfam:Sec6	187	743	1.7e-162	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036208
AA Change: I762T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I762T

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: I762T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,161,820		probably benign	Het
Atm	A	G	9: 53,459,796	S2251P	probably benign	Het
C1qtnf6	T	A	15: 78,527,351	K42*	probably null	Het
Ddx20	A	T	3: 105,680,627	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,605,827	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,880,014	N179K	probably benign	Het
Exosc9	A	T	3: 36,554,672	N140I	probably damaging	Het
Fam84b	A	G	15: 60,823,453	L148P	probably damaging	Het
Fancg	A	C	4: 43,007,062	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,900,661	I110V	probably damaging	Het
G6pd2	A	T	5: 61,809,410	D176V	probably damaging	Het
Gm5114	A	G	7: 39,411,402	S8P	probably benign	Het
Hoxa1	T	A	6: 52,156,898	M283L	probably damaging	Het
Hspbp1	A	T	7: 4,677,721	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,430,608	D319E	probably benign	Het
Kdm6a	A	G	X: 18,254,289	T737A	probably benign	Het
Kmt2c	A	T	5: 25,405,432	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,481,908	Y274*	probably null	Het
Mamdc4	A	G	2: 25,568,339	L353P	probably damaging	Het
Mid2	T	A	X: 140,736,452	H258Q	probably damaging	Het
Msh3	A	C	13: 92,300,295	N502K	probably damaging	Het
Nalcn	T	C	14: 123,323,358	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Notch3	G	A	17: 32,147,074	Q1018*	probably null	Het
Oas1e	A	G	5: 120,791,781		probably null	Het
Olfr1316	A	T	2: 112,130,081	H243Q	probably damaging	Het
Olfr854	A	G	9: 19,566,949	I145T	probably benign	Het
Plekha4	T	A	7: 45,538,298	F265I	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Spag1	C	A	15: 36,190,512	P158Q	probably damaging	Het
Spout1	G	A	2: 30,177,926	Q26*	probably null	Het
Sulf1	T	C	1: 12,848,208	Y50H	probably damaging	Het
Sytl5	C	T	X: 9,963,586		probably benign	Het
Tcof1	T	C	18: 60,831,565	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,615,940	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,417,289	C183F	probably damaging	Het
Ubqln3	A	T	7: 104,141,299	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,798,368	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,042,885	V70A	probably benign	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74160302	missense	probably benign	0.19
IGL01299:Slc9a3	APN	13	74160263	missense	probably benign	0.33
IGL01390:Slc9a3	APN	13	74150761	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74165972	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74158848	missense	probably damaging	0.99
IGL02186:Slc9a3	APN	13	74163114	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74165357	nonsense	probably null
IGL03056:Slc9a3	APN	13	74150819	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74158728	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74159424	missense	probably damaging	1.00
R0359:Slc9a3	UTSW	13	74157607	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74121536	missense	unknown
R0396:Slc9a3	UTSW	13	74157784	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74159246	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74150743	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74158818	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74163071	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74161770	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74166056	unclassified	probably null
R2048:Slc9a3	UTSW	13	74163741	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74121603	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74158703	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74158760	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74121669	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74161732	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74158886	nonsense	probably null
R4581:Slc9a3	UTSW	13	74164165	missense	probably damaging	0.99
R4841:Slc9a3	UTSW	13	74165837	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74157719	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74164293	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74164287	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74150960	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74163712	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74161723	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74158740	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74155161	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74164172	missense	probably damaging	0.99
R7145:Slc9a3	UTSW	13	74150678	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74157694	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74160276	missense	possibly damaging	0.88

Posted On

2014-05-07