Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Slc9a3'

575771

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

045500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74150885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 141 (Y141F)

Ref Sequence

ENSEMBL: ENSMUSP00000038142 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

probably damaging
Transcript: ENSMUST00000036208
AA Change: Y141F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: Y141F

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: Y141F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225423
AA Change: Y141F

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.3967

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,881,059	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Adam28	T	G	14: 68,626,877	R492S	probably damaging	Het
Adarb2	G	A	13: 8,757,277	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,222,873	D1295G	probably benign	Het
Aldh3b3	A	G	19: 3,966,476	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,389,097	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,528,165	V871I	unknown	Het
Apol7e	A	T	15: 77,714,352	R6*	probably null	Het
Arfgap3	T	C	15: 83,306,949	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,916,036	L285P	probably benign	Het
Arhgef7	T	A	8: 11,800,861	C315S	probably benign	Het
Atp9a	A	T	2: 168,648,593	L829Q	probably damaging	Het
Babam2	T	A	5: 31,731,049		probably null	Het
Bptf	C	T	11: 107,060,558	R2185H	probably damaging	Het
Brd9	A	C	13: 73,954,578	M473L	probably benign	Het
C7	T	C	15: 5,012,056	H456R	probably benign	Het
Cabp7	C	A	11: 4,738,856	A205S	probably damaging	Het
Catsperb	A	G	12: 101,588,034	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906	M5V	probably benign	Het
Cdyl	G	T	13: 35,858,194	R405L	possibly damaging	Het
Cep89	T	C	7: 35,428,247	L538P	probably damaging	Het
Cercam	A	G	2: 29,872,880	M209V	possibly damaging	Het
Chfr	T	A	5: 110,162,705		probably null	Het
Cntnap5c	T	A	17: 58,410,231	Y1269*	probably null	Het
Col6a2	G	T	10: 76,603,336	C833*	probably null	Het
Cpeb3	T	A	19: 37,174,500	I159F	probably benign	Het
Cplx2	G	A	13: 54,378,850	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,142,303	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,140,985	T20S	probably benign	Het
Dcst2	T	A	3: 89,366,686	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,318,474	I411V	probably benign	Het
Dock5	T	A	14: 67,809,030	I768F	probably benign	Het
Dpcr1	T	A	17: 35,638,420	T96S	probably benign	Het
Ecel1	A	G	1: 87,149,612	Y625H	probably damaging	Het
Efl1	T	G	7: 82,681,379	S253R	probably damaging	Het
Elmod1	T	A	9: 53,912,843	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,438,665	S423G	probably benign	Het
Fbxo8	A	T	8: 56,569,282		probably null	Het
Flnc	G	T	6: 29,455,471	G2040W	probably damaging	Het
Fras1	C	T	5: 96,673,599	A1405V	probably benign	Het
Frem3	A	C	8: 80,615,763	I1562L	probably benign	Het
Fxr1	C	T	3: 34,049,220	A233V	probably damaging	Het
Helb	A	G	10: 120,108,894	F246L	probably damaging	Het
Hils1	A	G	11: 94,968,358	R160G	possibly damaging	Het
Hoxb6	G	T	11: 96,292,684		probably benign	Het
Hspa2	A	G	12: 76,406,110	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,984		probably benign	Het
Ints6	A	T	14: 62,704,775	V503E	probably benign	Het
Ints9	C	T	14: 65,032,298	T479I	possibly damaging	Het
Jag1	C	T	2: 137,085,055	R928H	probably benign	Het
Lman2	A	T	13: 55,351,525	I179N	probably damaging	Het
Lta	T	C	17: 35,203,829	S173G	probably benign	Het
Mki67	G	A	7: 135,698,370	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,292,783		probably benign	Het
Muc4	T	A	16: 32,754,689	M1521K	probably benign	Het
Mylk3	T	G	8: 85,355,244	D438A	probably benign	Het
Myo7a	T	A	7: 98,051,626		probably null	Het
Nsmce4a	G	T	7: 130,533,817	Q342K	probably benign	Het
Olfr1232	T	A	2: 89,326,079	I34F	probably benign	Het
Olfr455	A	G	6: 42,538,119	I301T	possibly damaging	Het
Olfr484	A	G	7: 108,124,861	L134P	probably damaging	Het
Olfr808	A	T	10: 129,768,267	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,593,386	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,932,687	S2P	probably benign	Het
Plce1	T	C	19: 38,651,885	L525P	probably damaging	Het
Por	A	T	5: 135,734,919	M667L	probably benign	Het
Psma4	T	C	9: 54,954,882	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,412,457	H126L	probably benign	Het
Rab3a	A	T	8: 70,756,523	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,731,689	H87L	probably benign	Het
Rnf216	A	G	5: 143,090,836	S98P	probably benign	Het
Ryr1	G	T	7: 29,085,870	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,375,837	L37F	probably benign	Het
Sds	T	C	5: 120,479,189	S37P	probably damaging	Het
Senp6	A	G	9: 80,113,877	R280G	probably damaging	Het
She	T	A	3: 89,854,557	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,607,617	S244P	possibly damaging	Het
Slco6c1	A	T	1: 97,081,482	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301	Q16K	probably benign	Het
Sphkap	A	C	1: 83,263,826	V1535G	probably benign	Het
Stard9	C	A	2: 120,702,152	N2963K	probably benign	Het
Sycp2	C	T	2: 178,394,151	A248T	probably damaging	Het
Taar8a	T	C	10: 24,076,864	L122P	probably damaging	Het
Tab1	T	A	15: 80,160,244	V491E	probably benign	Het
Tanc1	T	C	2: 59,806,344	M857T	probably benign	Het
Tcirg1	C	A	19: 3,899,008	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,871,760	*244G	probably null	Het
Tox2	A	G	2: 163,321,515	Y136C		Het
Tubb1	T	C	2: 174,457,032	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,953,542		probably null	Het
Vmn1r225	T	A	17: 20,502,797	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,946,361	W372G	probably damaging	Het
Vps13a	A	T	19: 16,750,173	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,326,438	Q149K	probably benign	Het
Wdr35	A	G	12: 9,004,105	N466S	probably benign	Het
Ywhae	T	A	11: 75,759,343	S210R	probably damaging	Het
Zfp28	T	A	7: 6,394,749	S728T	probably damaging	Het
Zfpm1	A	G	8: 122,336,959	D919G	unknown	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
R6645:Slc9a3	UTSW	13	74164172	missense	probably damaging	0.99
R7145:Slc9a3	UTSW	13	74150678	missense	probably damaging	0.99
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'- AAGGTCACCAGTATCGTCCC -3'
(R):5'- TACTTAAGTAGTCCACAGAGACAC -3'

Sequencing Primer
(F):5'- AGTGCTCTACTCATCGTTCTGGG -3'
(R):5'- GAGACACTGCCCGTCATC -3'

Posted On

2019-10-07