Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Slc9a3'

233857

Institutional Source

Beutler Lab

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

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

Synonyms

NHE3, NHE-3, 9030624O13Rik

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

74269576-74317561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74269722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 30 (E30G)

Ref Sequence

ENSEMBL: ENSMUSP00000153255 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

probably benign
Transcript: ENSMUST00000036208
AA Change: E30G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E30G

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

noncoding transcript
Transcript: ENSMUST00000221410

Predicted Effect

probably benign
Transcript: ENSMUST00000221703
AA Change: E30G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423
AA Change: E30G

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

Meta Mutation Damage Score

0.0960

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,803 (GRCm39)		probably null	Het
9530002B09Rik	T	A	4: 122,583,198 (GRCm39)	C13*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adamts18	G	C	8: 114,571,635 (GRCm39)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,260,252 (GRCm39)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,575,085 (GRCm39)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,776,051 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,227,368 (GRCm39)	C166*	probably null	Het
Ces5a	T	A	8: 94,261,327 (GRCm39)	E33D	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chsy3	G	A	18: 59,309,544 (GRCm39)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,821 (GRCm39)	R251L	probably damaging	Het
Cps1	A	C	1: 67,191,538 (GRCm39)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cstf1	T	C	2: 172,217,683 (GRCm39)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	C	T	15: 73,395,345 (GRCm39)	T146M	probably damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,002,264 (GRCm39)	V303A	probably benign	Het
Dtx2	T	G	5: 136,059,464 (GRCm39)	L458R	probably benign	Het
Fat3	A	T	9: 15,901,808 (GRCm39)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,423,409 (GRCm39)	*265R	probably null	Het
Fndc11	A	G	2: 180,863,918 (GRCm39)	E241G	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,659,264 (GRCm39)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,128,084 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,792 (GRCm39)	G89R	possibly damaging	Het
Iqcm	T	A	8: 76,615,241 (GRCm39)	W441R	probably damaging	Het
Itga10	T	C	3: 96,558,808 (GRCm39)	L382P	possibly damaging	Het
Itga10	G	T	3: 96,561,039 (GRCm39)	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,756,075 (GRCm39)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,268,766 (GRCm39)	K1649R	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Marveld3	A	T	8: 110,686,434 (GRCm39)	V144E	probably benign	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,915,515 (GRCm39)	E47K	probably damaging	Het
Metrn	T	A	17: 26,015,601 (GRCm39)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mideas	G	T	12: 84,219,809 (GRCm39)	P382T	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh6	C	T	14: 55,191,228 (GRCm39)	R871H	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm39)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,291,485 (GRCm39)	T55A	probably benign	Het
Or8i2	T	A	2: 86,852,009 (GRCm39)	N293I	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Pkd2	A	C	5: 104,603,456 (GRCm39)		probably benign	Het
Reps1	T	A	10: 17,969,061 (GRCm39)	D206E	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,709,907 (GRCm39)	I150S	probably null	Het
Rxfp4	C	T	3: 88,560,200 (GRCm39)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sgo2b	T	G	8: 64,381,057 (GRCm39)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,062,349 (GRCm39)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,156,757 (GRCm39)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,712,161 (GRCm39)	V230A	probably benign	Het
Slc9c1	A	G	16: 45,413,827 (GRCm39)	Y985C	probably benign	Het
Supt6	A	G	11: 78,121,758 (GRCm39)	F298S	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,666,857 (GRCm39)	F460L	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,035 (GRCm39)	V105A	probably benign	Het
Ttc7	T	C	17: 87,654,135 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,727,532 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,270,075 (GRCm39)		probably null	Het
Usp36	A	G	11: 118,159,491 (GRCm39)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm39)	I72V	probably benign	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Zfp160	A	G	17: 21,247,244 (GRCm39)	K598R	probably benign	Het
Zfp39	T	C	11: 58,781,158 (GRCm39)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	probably benign	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
IGL01299:Slc9a3	APN	13	74,308,382 (GRCm39)	missense	probably benign	0.33
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGGACTGTTTGCGTTC -3'
(R):5'- AGAGCATGGCTAAGGCTCAG -3'

Sequencing Primer
(F):5'- CAGCGGGATTAAAGGCCACC -3'
(R):5'- CATGGCTAAGGCTCAGTCATAG -3'

Posted On

2014-10-01