Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Slc9a3'

343623

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

041599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74269576-74317561 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 74307005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 377 (R377*)

Ref Sequence

ENSEMBL: ENSMUSP00000153255 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

probably null
Transcript: ENSMUST00000036208
AA Change: R377*

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: R377*

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 null
Transcript: ENSMUST00000221703
AA Change: R377*

Predicted Effect

probably null
Transcript: ENSMUST00000225423
AA Change: R377*

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Esd	T	C	14: 74,979,517 (GRCm39)	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grb14	T	C	2: 64,783,947 (GRCm39)	N60S	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myl2	A	T	5: 122,244,801 (GRCm39)	H157L	probably benign	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,121,765 (GRCm39)	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xab2	T	C	8: 3,660,162 (GRCm39)	D855G	probably damaging	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	probably benign	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
R4581:Slc9a3	UTSW	13	74,312,284 (GRCm39)	missense	probably damaging	0.99
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'- GTCAGAAGTACGTGAAGGCC -3'
(R):5'- CAGGCACTCTGTAGGATGAG -3'

Sequencing Primer
(F):5'- GTACGTGAAGGCCAACATCTCAG -3'
(R):5'- GGATGAGGCAATAATACTGCTCTC -3'

Posted On

2015-09-24