Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Slc9a3'

500009

Institutional Source

Beutler Lab

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 3

Synonyms

NHE3, NHE-3, 9030624O13Rik

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74269576-74317561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74312284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 627 (Y627C)

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: Y627C

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

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: Y627C

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: Y627C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225423
AA Change: Y627C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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
3425401B19Rik	G	T	14: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Efhb	C	A	17: 53,733,303 (GRCm39)	A523S	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Myom2	A	G	8: 15,156,459 (GRCm39)	I769V	probably benign	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 3,993,375 (GRCm39)		probably null	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stc2	A	G	11: 31,315,326 (GRCm39)		probably null	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	probably damaging	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74,308,421 (GRCm39)	missense	probably benign	0.19
IGL01299:Slc9a3	APN	13	74,308,382 (GRCm39)	missense	probably benign	0.33
IGL01390:Slc9a3	APN	13	74,298,880 (GRCm39)	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74,314,091 (GRCm39)	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74,306,967 (GRCm39)	missense	probably damaging	0.99
IGL02072:Slc9a3	APN	13	74,313,978 (GRCm39)	missense	probably benign	0.00
IGL02186:Slc9a3	APN	13	74,311,233 (GRCm39)	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74,313,476 (GRCm39)	nonsense	probably null
IGL03056:Slc9a3	APN	13	74,298,938 (GRCm39)	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74,306,847 (GRCm39)	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74,307,543 (GRCm39)	missense	probably damaging	1.00
R0359:Slc9a3	UTSW	13	74,305,726 (GRCm39)	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74,269,655 (GRCm39)	missense	unknown
R0396:Slc9a3	UTSW	13	74,305,903 (GRCm39)	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74,307,365 (GRCm39)	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74,298,862 (GRCm39)	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74,306,937 (GRCm39)	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74,311,190 (GRCm39)	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74,309,889 (GRCm39)	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74,314,175 (GRCm39)	splice site	probably null
R2048:Slc9a3	UTSW	13	74,311,860 (GRCm39)	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74,269,722 (GRCm39)	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74,306,822 (GRCm39)	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74,306,879 (GRCm39)	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74,269,788 (GRCm39)	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74,309,851 (GRCm39)	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74,307,005 (GRCm39)	nonsense	probably null
R4841:Slc9a3	UTSW	13	74,313,956 (GRCm39)	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74,305,838 (GRCm39)	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74,312,412 (GRCm39)	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74,312,406 (GRCm39)	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74,299,079 (GRCm39)	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74,311,831 (GRCm39)	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74,309,842 (GRCm39)	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74,306,859 (GRCm39)	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74,303,280 (GRCm39)	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74,312,291 (GRCm39)	missense	probably damaging	0.99
R7145:Slc9a3	UTSW	13	74,298,797 (GRCm39)	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74,305,813 (GRCm39)	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74,308,395 (GRCm39)	missense	possibly damaging	0.88
R8032:Slc9a3	UTSW	13	74,305,763 (GRCm39)	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74,314,146 (GRCm39)	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74,303,241 (GRCm39)	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74,312,407 (GRCm39)	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74,305,823 (GRCm39)	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74,311,895 (GRCm39)	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74,298,920 (GRCm39)	missense	probably damaging	1.00
R9741:Slc9a3	UTSW	13	74,306,994 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74,313,975 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTTCTTCTCAGACAAGGG -3'
(R):5'- AAGTCTGTTCACCTGGCAG -3'

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

Posted On

2017-11-30