Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Slc9a3'

522493

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

044686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74155161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 191 (V191E)

Ref Sequence

ENSEMBL: ENSMUSP00000153255 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036208
AA Change: V191E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: V191E

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

possibly damaging
Transcript: ENSMUST00000221703
AA Change: V191E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225423
AA Change: V191E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,362	T1246S	possibly damaging	Het
4933434E20Rik	A	G	3: 90,063,236	K26E	probably benign	Het
Abt1	T	G	13: 23,423,588	E82A	probably damaging	Het
Actr8	A	G	14: 29,986,454		probably null	Het
Akap12	G	T	10: 4,356,141	E984*	probably null	Het
Ankrd13a	C	A	5: 114,804,392		probably benign	Het
Ankrd13c	T	A	3: 157,999,672	S411T	probably damaging	Het
Arhgef28	A	G	13: 97,988,139		probably null	Het
Arhgef3	A	T	14: 27,152,996		probably benign	Het
Atad5	T	C	11: 80,133,206	S1712P	probably benign	Het
Bbs12	A	G	3: 37,320,240	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,662,722	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,150,814	N89S	probably damaging	Het
Cenpu	T	C	8: 46,572,823	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,078,539	W157*	probably null	Het
Ctnnd1	A	G	2: 84,624,308	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 23,917,598		probably benign	Het
Dock7	A	T	4: 98,991,410	V969D	probably damaging	Het
Ehd2	C	A	7: 15,957,567	R280L	probably benign	Het
Entpd5	T	C	12: 84,386,200	T218A	probably damaging	Het
Fcrls	A	C	3: 87,257,328	I297S	probably benign	Het
Frmpd2	T	A	14: 33,571,915	L1346Q	probably benign	Het
Fry	T	C	5: 150,326,149	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,504,886	I179F	probably damaging	Het
Gm17067	A	T	7: 42,708,729	S116R	probably damaging	Het
Gm5565	G	T	5: 146,158,154	P261T	probably damaging	Het
Gm609	C	T	16: 45,444,079	E39K	probably benign	Het
Kat6a	T	C	8: 22,911,787	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,473,184		probably null	Het
Krt6a	T	A	15: 101,691,659	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,970,204	T723I	probably benign	Het
Lamb2	A	T	9: 108,487,008	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,598,186		probably benign	Het
Lysmd2	C	T	9: 75,635,409	T95I	unknown	Het
Ndst3	A	G	3: 123,552,532	S698P	probably damaging	Het
Nin	T	C	12: 70,055,954	D300G	probably damaging	Het
Nutf2	G	T	8: 105,875,626	D23Y	probably benign	Het
Olfr801	G	A	10: 129,670,139	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,980,273	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,946,593	I633V	probably benign	Het
Pik3r3	C	T	4: 116,299,809	Q496*	probably null	Het
Pkn3	G	T	2: 30,080,687		probably null	Het
Plin2	A	T	4: 86,658,595	S298T	probably benign	Het
Prdm8	T	C	5: 98,183,343	V18A	possibly damaging	Het
Rel	C	A	11: 23,757,026	G59*	probably null	Het
Siglecg	A	G	7: 43,409,057	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,793	I49F	probably benign	Het
Slc39a10	T	A	1: 46,835,564	T193S	probably benign	Het
Sult2b1	A	C	7: 45,742,246	S39A	probably benign	Het
Tead1	A	G	7: 112,861,443	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445		probably null	Het
Trim12c	A	T	7: 104,345,134		probably null	Het
Trpm6	T	A	19: 18,838,042	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,262,241	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,780,427	I85F	probably benign	Het
Vwde	T	A	6: 13,193,123	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,155,068		probably null	Het
Zcchc14	A	T	8: 121,604,103	N840K	probably damaging	Het
Zfp451	C	A	1: 33,762,179	S1052I	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
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'- GACATCCTCTTTGTCACTGGG -3'
(R):5'- TTGGTAACGAGCACTTGGC -3'

Sequencing Primer
(F):5'- AGCCCTGGGAAGAGTTGTTCC -3'
(R):5'- TTGGCAAGGTATCCTAAAACCTC -3'

Posted On

2018-06-06