Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Slc9a3'

20168

Institutional Source

Beutler Lab

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

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

Synonyms

9030624O13Rik, NHE-3, NHE3

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74158728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 324 (E324G)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

probably damaging
Transcript: ENSMUST00000036208
AA Change: E324G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E324G

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 damaging
Transcript: ENSMUST00000221703
AA Change: E324G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423
AA Change: E324G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.1540

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4933427I04Rik	A	G	4: 123,860,982	T230A	possibly damaging	Het
9230110C19Rik	T	A	9: 8,027,183	N118I	probably benign	Het
Acsm1	T	C	7: 119,662,189		probably benign	Het
Acta1	T	C	8: 123,893,657	N14S	probably damaging	Het
Aff4	A	G	11: 53,392,782	T362A	probably benign	Het
Aggf1	A	G	13: 95,364,959	I305T	probably benign	Het
Ap4b1	A	G	3: 103,820,429	D325G	possibly damaging	Het
Ap4e1	C	T	2: 127,064,985	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,639,348	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,075,110	F122L	probably damaging	Het
Baiap3	G	A	17: 25,250,070		probably benign	Het
Casp8ap2	T	A	4: 32,640,327	H460Q	probably damaging	Het
Casz1	A	G	4: 148,933,411	T386A	probably benign	Het
Cd53	A	T	3: 106,767,409	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,393,327		probably benign	Het
Chaf1b	G	T	16: 93,887,124	A88S	possibly damaging	Het
Cldn10	A	T	14: 118,874,200	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,095,218		probably null	Het
Cmpk2	A	T	12: 26,478,022	T413S	probably benign	Het
Col9a1	T	A	1: 24,223,562		probably null	Het
Dchs1	G	T	7: 105,755,932	Q2468K	probably benign	Het
Ddx60	A	G	8: 61,942,293	D88G	probably damaging	Het
Dnah8	A	G	17: 30,784,090	R3588G	probably benign	Het
Ect2	T	C	3: 27,115,476	T774A	probably benign	Het
Ect2	C	T	3: 27,138,502	E431K	probably null	Het
Ern1	A	G	11: 106,405,823	V767A	probably damaging	Het
Fbln1	A	C	15: 85,224,288	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,261,987	R132*	probably null	Het
Folh1	T	C	7: 86,725,868		probably benign	Het
Gdf15	A	T	8: 70,629,684	H257Q	probably damaging	Het
Ghitm	T	C	14: 37,122,219	T322A	probably benign	Het
Gm13212	A	T	4: 145,622,625	K211*	probably null	Het
Gm5709	A	G	3: 59,618,771		noncoding transcript	Het
Hbb-y	C	T	7: 103,852,743		probably null	Het
Hmcn2	A	T	2: 31,426,198	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,799,509	D627G	probably benign	Het
Idh2	T	C	7: 80,097,914	E286G	probably damaging	Het
Idh3b	C	A	2: 130,280,979	A297S	probably benign	Het
Igsf3	A	G	3: 101,435,652	E535G	probably damaging	Het
Ilf3	T	A	9: 21,395,414	D314E	probably damaging	Het
Itgb8	A	G	12: 119,202,563	S78P	probably benign	Het
Itih5	G	A	2: 10,164,684	V31I	probably benign	Het
Kcnj2	T	C	11: 111,073,027	V415A	probably benign	Het
Kin	A	G	2: 10,085,773	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,947,837	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,780,486		probably benign	Het
Ltbr	T	C	6: 125,309,449		probably benign	Het
Mgat4a	G	A	1: 37,490,333	T146I	probably damaging	Het
Mrps2	G	C	2: 28,468,256	W19C	probably damaging	Het
Mthfs	T	C	9: 89,211,291	S33P	probably damaging	Het
Myh6	T	C	14: 54,958,704	D546G	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,727,267	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,240,034	E616G	probably damaging	Het
Nrde2	T	C	12: 100,129,286		probably benign	Het
Nup210l	G	A	3: 90,211,779	V1832I	probably benign	Het
Olfr1283	A	T	2: 111,369,294	I221F	probably damaging	Het
Olfr376	G	A	11: 73,375,576	V276I	probably benign	Het
Pcm1	A	T	8: 41,256,041	E9D	probably damaging	Het
Pear1	A	T	3: 87,754,342	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063		probably benign	Het
Prss1	G	A	6: 41,461,232	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,569,503	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,498,461	D149G	probably damaging	Het
Reg3d	A	T	6: 78,378,483	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Sacs	T	A	14: 61,205,440	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,464,925	S71C	probably damaging	Het
Smgc	T	C	15: 91,859,762	V574A	possibly damaging	Het
Stac3	C	T	10: 127,503,930		probably benign	Het
Supv3l1	A	G	10: 62,429,706	L685P	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tas2r125	G	T	6: 132,910,398	A250S	probably benign	Het
Tdrd6	C	T	17: 43,628,241	V639I	probably benign	Het
Thap12	T	G	7: 98,715,893	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410	I217V	probably benign	Het
Trip12	T	A	1: 84,732,136		probably benign	Het
Tshz3	T	C	7: 36,768,892	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826	S347P	probably damaging	Het
Usp10	C	T	8: 119,953,196	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,754,876	I36V	probably benign	Het
Vps37a	T	C	8: 40,526,989	I63T	possibly damaging	Het
Whrn	C	A	4: 63,432,732	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,570,217	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,029,040		probably benign	Het
Zfhx3	G	A	8: 108,950,057	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,243,625	N637S	probably damaging	Het
Zyg11a	A	T	4: 108,201,347		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
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
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
R9741:Slc9a3	UTSW	13	74158875	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTCGGGAAGAGCAGGGTTCATAC -3'
(R):5'- ACCTAAACTGAGGGAGCCTAGCTAC -3'

Sequencing Primer
(F):5'- GACTAGCCATTGTAGATTGTATCTCC -3'
(R):5'- GAGCCTAGCTACTACTAAGAGTGC -3'

Posted On

2013-04-11