Mutagenetix > Incidental Mutation

Incidental Mutation 'R8032:Slc9a3'

618044

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74157644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 260 (G260D)

Ref Sequence

ENSEMBL: ENSMUSP00000038142 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

probably damaging
Transcript: ENSMUST00000036208
AA Change: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: G260D

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: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225423
AA Change: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	A	4: 154,667,498	E60D	probably benign	Het
Adamts12	T	C	15: 11,259,103		probably null	Het
Ak9	T	A	10: 41,424,620	C1609S	unknown	Het
Aox2	A	T	1: 58,350,283	Y1147F	probably benign	Het
Atf7ip	T	C	6: 136,565,112	F615L	probably benign	Het
BC005624	A	G	2: 30,975,889		probably null	Het
BC024063	T	A	10: 82,107,904	M33K	probably benign	Het
Bmpr2	T	A	1: 59,867,343	S532T	probably benign	Het
Cast	G	A	13: 74,735,241	Q292*	probably null	Het
Ccdc155	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 45,188,184		probably benign	Het
Ccdc155	TCAGGC	TCAGGCACAGGC	7: 45,188,206		probably benign	Het
Ccdc7a	G	T	8: 128,825,383	H1249N	unknown	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Col15a1	T	C	4: 47,288,108	I4T	unknown	Het
Cyp2c39	A	G	19: 39,510,982	I38V	probably benign	Het
Dmpk	A	G	7: 19,088,053	D312G	possibly damaging	Het
Dnah1	T	C	14: 31,271,548	D2892G	probably damaging	Het
Dnah10	G	A	5: 124,746,612	D566N	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd2	T	A	12: 80,489,653	D352E	probably benign	Het
Fgf8	A	T	19: 45,737,237	L187Q	probably damaging	Het
Frrs1	A	G	3: 116,878,360	I36V	probably benign	Het
Gga2	A	T	7: 122,020,987		probably null	Het
Gigyf2	C	G	1: 87,407,013	H249D	unknown	Het
Gli2	A	T	1: 118,836,170	M1417K	probably damaging	Het
Gm10801	C	CGTA	2: 98,663,807		probably null	Het
Gm49380	A	T	9: 44,111,703	I416N	probably damaging	Het
Gpr137	T	C	19: 6,942,112	T16A	unknown	Het
Grid1	T	A	14: 35,323,359	D386E	probably benign	Het
Grm3	A	G	5: 9,512,272	V526A	probably benign	Het
Havcr2	A	T	11: 46,479,291	I231F	probably damaging	Het
Icam5	C	A	9: 21,033,218	R72S	probably benign	Het
Ighv9-2	T	A	12: 114,109,144	I70L	possibly damaging	Het
Inpp5e	C	T	2: 26,396,853	S119N		Het
Kxd1	T	A	8: 70,514,141	D110V	possibly damaging	Het
Mbd4	A	G	6: 115,844,633	S474P	probably damaging	Het
Meaf6	C	A	4: 125,103,002	H168Q	unknown	Het
Nek2	T	C	1: 191,826,345	L254S	probably damaging	Het
Nhej1	T	C	1: 74,968,800	D104G	probably benign	Het
Nmnat3	A	G	9: 98,410,218	E172G	probably benign	Het
Npm3	A	T	19: 45,748,243	D152E	probably benign	Het
Nsd1	A	T	13: 55,310,383	K2103M	probably damaging	Het
Ntrk3	C	T	7: 78,356,059	R518H	probably damaging	Het
Nup210	T	A	6: 91,074,349	T351S	probably benign	Het
Olfr1013	A	G	2: 85,769,866	I22V	probably benign	Het
Olfr1564	T	A	17: 33,215,950	R131S	possibly damaging	Het
Otof	T	A	5: 30,461,798	M1L	probably benign	Het
Pacs2	T	A	12: 113,061,658	Y477N	probably damaging	Het
Panx3	A	G	9: 37,661,670	Y195H	probably damaging	Het
Pcsk5	T	C	19: 17,714,787	R178G	probably damaging	Het
Pde7a	A	G	3: 19,260,265	S56P	possibly damaging	Het
Prcp	T	G	7: 92,928,698	C392G	probably damaging	Het
Prkdc	A	G	16: 15,779,451	K2825R	probably benign	Het
Ptpn12	T	C	5: 20,998,043	H579R	probably benign	Het
Rbl1	A	T	2: 157,187,998	Y468*	probably null	Het
Rbmxl2	A	G	7: 107,210,222	Y238C	probably damaging	Het
Scgb2b20	A	T	7: 33,366,299	M1K	probably null	Het
Slc25a18	G	A	6: 120,792,491	G237D	probably damaging	Het
Sorcs1	A	T	19: 50,475,408	S201R	probably benign	Het
Strip1	A	C	3: 107,618,078	D547E	probably damaging	Het
Thsd7a	C	T	6: 12,555,288	C199Y		Het
Top1mt	A	G	15: 75,668,723	V233A	probably damaging	Het
Tpp2	C	G	1: 43,975,468	P656A	possibly damaging	Het
Ttc1	A	T	11: 43,737,979	L193Q	probably damaging	Het
Ttll4	T	A	1: 74,696,473	D1013E	possibly damaging	Het
Unc5a	T	C	13: 54,996,486	V208A	possibly damaging	Het
Vmn1r185	C	A	7: 26,611,133	V316F	probably benign	Het
Vmn2r112	T	A	17: 22,603,394	V351E	probably benign	Het
Wdfy4	T	A	14: 33,029,086	K2391*	probably null	Het
Zfhx3	T	C	8: 108,951,222	V2968A	possibly damaging	Het
Zfp551	G	A	7: 12,418,560	A82V	possibly damaging	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
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
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'- GAGAACAAAGTTGCCTCATTTCC -3'
(R):5'- AATGCAGGGGATATCTGGCAC -3'

Sequencing Primer
(F):5'- GAACAAAGTTGCCTCATTTCCTAAAC -3'
(R):5'- GGGATATCTGGCACATCACCATCTAG -3'

Posted On

2020-01-23