Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02878:Slc9a3'

362717

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 74165357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 730 (E730*)

Ref Sequence

ENSEMBL: ENSMUSP00000153255 (fasta)

Gene Model

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

AlphaFold

G3X939

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 null
Transcript: ENSMUST00000036208
AA Change: E730*

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E730*

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 null
Transcript: ENSMUST00000221703
AA Change: E730*

Predicted Effect

probably null
Transcript: ENSMUST00000225423
AA Change: E730*

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,138,329	D801G	probably benign	Het
Abce1	T	C	8: 79,703,007	H95R	possibly damaging	Het
Axl	T	A	7: 25,758,877	M818L	probably damaging	Het
Cckbr	C	T	7: 105,434,031	A147V	probably damaging	Het
Cdc40	T	C	10: 40,843,122	D337G	probably damaging	Het
Cep70	T	C	9: 99,281,107		probably benign	Het
Cpeb1	C	T	7: 81,357,326	V318I	probably damaging	Het
Crlf1	G	A	8: 70,503,640		probably null	Het
Dnah6	A	T	6: 73,032,587	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,616,441	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 34,910,767	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,729,879		probably benign	Het
Gpr61	A	T	3: 108,150,028	L439H	probably damaging	Het
Klf9	G	T	19: 23,142,269		probably benign	Het
Krt73	T	C	15: 101,798,826	Y309C	probably damaging	Het
Lrrk1	T	C	7: 66,262,563	M1750V	probably benign	Het
Mc1r	G	T	8: 123,407,630	G41C	probably damaging	Het
Mecr	C	A	4: 131,854,708	A133E	probably damaging	Het
Mon2	T	C	10: 123,006,991	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,540,199	L106*	probably null	Het
Mrpl48	A	T	7: 100,574,513	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,669,033	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,908,300		probably null	Het
Myrfl	A	T	10: 116,777,405	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,906,831	Y671N	probably damaging	Het
Olfr347	A	T	2: 36,734,477	D52V	probably damaging	Het
Olfr57	G	T	10: 79,035,558	C254F	probably benign	Het
Opalin	A	T	19: 41,067,669	D62E	probably benign	Het
Otoa	T	C	7: 121,143,853	F768L	probably damaging	Het
Pde4b	T	A	4: 102,601,639	N497K	probably damaging	Het
Plcl2	T	A	17: 50,607,355	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,642,914	*357R	probably null	Het
Ryr2	A	G	13: 11,918,319	S89P	probably benign	Het
Sema3b	C	T	9: 107,600,993	V398I	probably damaging	Het
Setd3	A	G	12: 108,108,555		probably null	Het
Sgsh	T	C	11: 119,346,558	D410G	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Tmem132c	T	C	5: 127,563,090	L775P	probably damaging	Het
Togaram1	T	C	12: 64,992,626	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,776,878	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,404,717		probably null	Het
Ydjc	A	G	16: 17,147,605	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,582,851	H443L	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
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
R9741:Slc9a3	UTSW	13	74158875	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Posted On

2015-12-18