Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Slc9a3'

101549

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

039242-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74150743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 94 (V94I)

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: V94I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: V94I

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: V94I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423
AA Change: V94I

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	G	2: 23,256,982	K275E	possibly damaging	Het
Abhd17a	T	C	10: 80,583,947	E275G	probably damaging	Het
Adam10	T	A	9: 70,746,292	I123N	probably damaging	Het
Adam8	A	T	7: 139,983,929	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,494,116	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,454,252	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468	S389P	possibly damaging	Het
C4b	A	T	17: 34,742,972	L100Q	probably benign	Het
Cacul1	G	A	19: 60,580,408	A104V	probably damaging	Het
Camsap3	T	C	8: 3,603,866	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454	V61A	possibly damaging	Het
Chd1	T	A	17: 15,735,732	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,674,795	Q156*	probably null	Het
Clip2	T	A	5: 134,492,250	E978V	probably benign	Het
Cnpy2	T	G	10: 128,323,596	L34R	probably damaging	Het
Cog6	A	T	3: 53,013,844	C114S	probably benign	Het
Col6a3	A	T	1: 90,822,014	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,896,974		probably null	Het
Dmbt1	G	A	7: 131,074,524		probably null	Het
Dok1	A	G	6: 83,032,048	F218L	possibly damaging	Het
Dph7	T	A	2: 24,966,571	N178K	probably benign	Het
Enam	A	T	5: 88,503,258	E800D	probably damaging	Het
Fads3	A	T	19: 10,054,099	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,155,976	H265R	probably benign	Het
Gli1	T	A	10: 127,338,451	S24C	probably damaging	Het
Gm4894	T	A	9: 49,274,226	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,574,366	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,333,357	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,498,124	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,705,108	F285C	probably benign	Het
Igf1r	G	T	7: 68,165,127	V259L	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Ighg2c	A	T	12: 113,285,952		probably benign	Het
Ighv8-14	A	T	12: 115,808,455		probably null	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itsn2	A	G	12: 4,639,694	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,350,271	E38D	possibly damaging	Het
Krt42	T	G	11: 100,263,345		probably null	Het
Lman1l	T	C	9: 57,609,995	T369A	probably damaging	Het
Lpo	T	C	11: 87,817,317	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,900,930	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,083,264	D99V	probably damaging	Het
Lyplal1	T	C	1: 186,114,334	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,143,283	Q793*	probably null	Het
Myh10	T	G	11: 68,762,841	M346R	probably damaging	Het
Nav1	G	T	1: 135,455,205	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,968,323	V1642A	probably benign	Het
Olfr1066	A	G	2: 86,455,587	I228T	possibly damaging	Het
Olfr1104	A	G	2: 87,021,717	F276L	probably damaging	Het
Olfr1428	C	T	19: 12,109,489	R19H	probably benign	Het
Olfr870	T	C	9: 20,171,058	N171S	probably benign	Het
Orm3	G	A	4: 63,357,848	V166M	probably damaging	Het
Oxct1	T	A	15: 4,091,226	I264N	probably damaging	Het
Paox	G	A	7: 140,126,331	V55I	probably benign	Het
Pde4d	C	A	13: 109,950,928		probably null	Het
Pnliprp1	A	G	19: 58,734,951	N258S	probably damaging	Het
Prl7b1	C	A	13: 27,606,904	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,667,612	C261F	probably benign	Het
Rho	C	G	6: 115,932,238	N78K	probably damaging	Het
Rnf17	A	G	14: 56,514,165	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,733,014	T2922I	probably benign	Het
Saxo2	A	C	7: 82,635,171	F160V	possibly damaging	Het
Sbf2	A	T	7: 110,310,184	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,298,233	V280E	probably benign	Het
Sgsm1	T	C	5: 113,279,485	D90G	probably damaging	Het
Siglec1	A	T	2: 131,074,827	D1169E	probably damaging	Het
Sim1	T	A	10: 50,981,522	V456E	probably benign	Het
Skint8	T	A	4: 111,928,513	I52N	possibly damaging	Het
Slc27a1	C	A	8: 71,580,653	R280S	probably benign	Het
Sorcs2	C	A	5: 36,027,925	V936L	possibly damaging	Het
Syce1	A	G	7: 140,778,207	F255S	probably benign	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem200a	T	A	10: 25,994,348	I8F	probably damaging	Het
Trip6	T	C	5: 137,311,920	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,751,309	N177K	probably benign	Het
Wdr66	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,254,610		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
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
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

Predicted Primers

Posted On

2014-01-15