Mutagenetix > Incidental Mutation

Incidental Mutation 'R6645:Slc9a3'

526088

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

044766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74164172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 629 (H629Q)

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: H629Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: H629Q

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: H629Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225423
AA Change: H629Q

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,117	D994V	probably benign	Het
Anp32e	T	A	3: 95,937,102	F95I	probably damaging	Het
Arap1	A	G	7: 101,408,111	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,120,152	E6D	probably damaging	Het
Atxn10	G	T	15: 85,376,703		probably null	Het
Ccdc170	A	G	10: 4,560,974	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,138,930	V110D	probably benign	Het
Cep85l	C	T	10: 53,301,672	E322K	probably benign	Het
Cilp	A	T	9: 65,279,305	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,641,174	S62P	possibly damaging	Het
Dph7	T	C	2: 24,965,651	V154A	probably benign	Het
Ephb6	T	C	6: 41,617,272	S579P	probably benign	Het
Fam53a	G	T	5: 33,600,784	Q332K	probably benign	Het
Fancm	A	G	12: 65,106,100	D1110G	probably damaging	Het
Fh1	A	T	1: 175,614,876	V136E	possibly damaging	Het
Greb1	G	T	12: 16,698,579	H1132Q	probably benign	Het
Jph1	A	G	1: 17,091,761	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,126,749	R460*	probably null	Het
Lama5	T	A	2: 180,179,670	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,803,748	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,970,107	W241R	probably damaging	Het
Mfn2	T	A	4: 147,894,612	I88F	probably damaging	Het
Mms19	G	C	19: 41,955,191	N366K	probably benign	Het
Myo15	A	G	11: 60,477,292	T293A	probably benign	Het
Ndfip2	T	A	14: 105,292,273	Y179N	probably damaging	Het
Notch4	A	G	17: 34,587,816	D1909G	probably benign	Het
Obscn	C	T	11: 59,085,262	S2013N	probably damaging	Het
Oca2	G	T	7: 56,314,774	A357S	probably benign	Het
Olfr902	T	C	9: 38,448,923	L17S	probably damaging	Het
Olfr955	T	A	9: 39,470,266	L153F	probably benign	Het
Pde7b	C	A	10: 20,610,566		probably null	Het
Ppef2	T	C	5: 92,230,461	N625S	probably benign	Het
Prom1	A	T	5: 44,047,514	L192Q	probably damaging	Het
Satb2	T	C	1: 56,797,007	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,360,162	T59M	probably damaging	Het
Skint6	T	C	4: 112,892,038	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,268,839	Q624K	probably benign	Het
Slitrk3	G	T	3: 73,049,861	A526E	probably benign	Het
Sptssa	T	C	12: 54,646,490	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,863,563	S159P	possibly damaging	Het
Tbce	T	C	13: 14,005,229	T341A	probably benign	Het
Tdrd6	A	G	17: 43,624,532	L1875P	probably benign	Het
Tkt	G	A	14: 30,570,211	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,690,963	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,236,377	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,506	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,523,331	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,428,381	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,556,876	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,305	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523	Q212H	probably damaging	Het
Washc4	C	T	10: 83,572,195	R555*	probably null	Het
Zmat4	G	A	8: 23,797,401		probably null	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
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'- GCCTTCTTCTCAGACAAGGG -3'
(R):5'- TCTGTTCACCTGGCAGCTTG -3'

Sequencing Primer
(F):5'- ACAAGGGGTCCACAGGG -3'
(R):5'- AGAGAGTCCCCTGACCCTTC -3'

Posted On

2018-06-22