Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02186:Slc9a3'

283621

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 #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74163114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 576 (E576G)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036208
AA Change: E576G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E576G

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

possibly damaging
Transcript: ENSMUST00000221703
AA Change: E576G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225423
AA Change: E576G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,468	F100S	unknown	Het
Abca3	A	G	17: 24,377,740	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,054,810		probably null	Het
Adam21	G	A	12: 81,559,209	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,425,960	M161K	probably benign	Het
Agrp	A	T	8: 105,567,189	N48K	probably benign	Het
Asprv1	A	T	6: 86,628,918	M249L	probably damaging	Het
Begain	A	G	12: 109,033,352	Y703H	probably damaging	Het
Bspry	T	A	4: 62,495,989		probably benign	Het
Cct8l1	T	G	5: 25,516,838	S184A	probably benign	Het
Cdk13	C	T	13: 17,772,527	V549I	probably benign	Het
Cdyl2	C	T	8: 116,579,286	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,603,525	S205P	probably damaging	Het
Cltc	G	A	11: 86,704,985	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,704,986	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,793	F62L	probably damaging	Het
Dlec1	T	A	9: 119,143,627	C1473S	probably benign	Het
Dmbt1	T	A	7: 131,093,256		probably benign	Het
Dnase1	G	A	16: 4,039,032	V176I	probably benign	Het
Dusp1	G	T	17: 26,507,058	Y220*	probably null	Het
Enpp3	A	C	10: 24,791,983		probably benign	Het
Exosc10	T	C	4: 148,565,298	L395P	probably damaging	Het
Fn1	T	C	1: 71,638,534	K533R	probably damaging	Het
Gcm2	T	A	13: 41,104,649	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,095,147		probably benign	Het
Ifrd1	A	G	12: 40,214,093	V101A	probably benign	Het
Iqsec1	G	T	6: 90,676,877	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,526,813	M254L	probably benign	Het
Krit1	T	C	5: 3,809,733		probably benign	Het
Letm1	T	C	5: 33,745,047	K633E	probably benign	Het
Mfsd1	A	G	3: 67,596,595	I307V	probably benign	Het
Mtrr	T	C	13: 68,564,357	T637A	probably benign	Het
Naxe	C	A	3: 88,056,998	D212Y	probably damaging	Het
Nlk	A	T	11: 78,586,936	V327D	probably damaging	Het
Olfr1131	A	T	2: 87,629,371	I187F	probably benign	Het
Olfr38	A	G	6: 42,762,946	K298R	probably null	Het
Pdzd8	C	T	19: 59,300,628	G780D	probably damaging	Het
Prune1	T	C	3: 95,259,237		probably benign	Het
Qser1	A	T	2: 104,788,261	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,979,467	Y193H	probably benign	Het
Reln	A	G	5: 21,909,958	Y3119H	probably damaging	Het
Scel	C	T	14: 103,564,821	A219V	probably benign	Het
Skint11	A	T	4: 114,244,636	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Slc5a5	C	A	8: 70,886,120	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,527,863		probably null	Het
Slco1b2	A	T	6: 141,634,545		probably benign	Het
Smc5	A	G	19: 23,231,859	V647A	probably damaging	Het
Snph	T	C	2: 151,594,343	N222D	possibly damaging	Het
Srbd1	A	G	17: 86,109,231	F500L	probably benign	Het
Stxbp6	T	C	12: 44,902,023	D101G	probably damaging	Het
Taar7b	A	G	10: 23,999,981	I15V	probably benign	Het
Tdrd12	G	T	7: 35,501,401	N338K	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Tmem219	A	T	7: 126,896,816	D128E	probably benign	Het
Togaram2	A	G	17: 71,685,171	T3A	possibly damaging	Het
Ttn	C	T	2: 76,894,283		probably benign	Het
Uchl1	C	A	5: 66,677,039	C47*	probably null	Het
Unc79	T	G	12: 103,011,283	S182A	probably benign	Het
Vmn2r1	A	G	3: 64,081,717	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vps54	T	C	11: 21,306,947	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250	V126G	possibly damaging	Het
Zmym2	A	G	14: 56,943,351	T907A	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
IGL02072:Slc9a3	APN	13	74165859	missense	probably benign	0.00
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	splice site	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
R8032:Slc9a3	UTSW	13	74157644	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74166027	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74155122	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74164288	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74157704	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74163776	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74150801	missense	probably damaging	1.00
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Posted On

2015-04-16