Mutagenetix > Incidental Mutations

Incidental Mutation 'R8939:Slc9a3'

680865

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74163776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 614 (H614Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

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

AlphaFold

G3X939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036208
AA Change: H614Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: H614Q

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: H614Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

Meta Mutation Damage Score

0.1838

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,385,061	A32T	probably damaging	Het
4930578I06Rik	A	G	14: 63,987,713	V12A	probably benign	Het
Abcc12	A	G	8: 86,517,318	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,679,251	T473A	probably damaging	Het
Acsm1	A	T	7: 119,640,645	T271S	probably benign	Het
Adh6b	T	C	3: 138,349,636	I49T	probably benign	Het
Aff4	A	T	11: 53,372,404	T84S	probably benign	Het
Angptl7	G	A	4: 148,496,499	R280*	probably null	Het
Bhlhe23	T	A	2: 180,776,306	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,086,806		probably null	Het
Cfap45	C	G	1: 172,545,267	R510G	probably damaging	Het
Chl1	A	G	6: 103,665,907	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,406,842	T336S	probably benign	Het
Clpx	A	G	9: 65,324,237	K535E	probably benign	Het
Crybg3	T	C	16: 59,556,149	M1581V	probably benign	Het
Ddx4	A	T	13: 112,622,289	I246K	probably benign	Het
F7	G	T	8: 13,028,724	G52C	probably damaging	Het
Fam186b	T	C	15: 99,279,342	Q701R	probably benign	Het
Fign	T	A	2: 63,979,112	M605L	probably benign	Het
Fpr2	T	C	17: 17,893,621	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gria2	A	T	3: 80,710,863		probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Gsto2	T	C	19: 47,884,764		probably null	Het
Hsd3b1	A	G	3: 98,852,983	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,567,463		probably null	Het
Ighv1-80	C	T	12: 115,912,493	G68R	probably damaging	Het
Il10ra	A	G	9: 45,266,504	V69A	unknown	Het
Klhdc1	C	T	12: 69,253,763	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,665,403	I166T	unknown	Het
Lce1h	A	T	3: 92,763,669	C59S	unknown	Het
Magi3	T	C	3: 104,089,432		probably benign	Het
Map3k1	G	T	13: 111,756,303	S806*	probably null	Het
Map3k6	T	A	4: 133,252,643		probably benign	Het
Mgam	G	A	6: 40,763,203		probably null	Het
Mtx1	A	G	3: 89,212,726	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,793,354	N356Y	probably damaging	Het
Myo16	T	C	8: 10,474,679	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,255,464	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,266,020	V28I	probably benign	Het
Olfr1484	A	C	19: 13,585,496	N64T	probably damaging	Het
Olfr63	A	G	17: 33,269,615	K297R	probably damaging	Het
Pcmtd2	T	C	2: 181,855,070		probably benign	Het
Pcnx3	A	G	19: 5,680,319	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,521,319	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 65,803,931	V70A	probably damaging	Het
Psd2	G	A	18: 35,988,239	V421M	probably damaging	Het
Rbak	C	T	5: 143,174,270	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,210,093	A136V	probably benign	Het
Rusc1	T	A	3: 89,088,030	E231D	probably benign	Het
Rxfp1	T	C	3: 79,644,924	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,898,907	E88G	probably benign	Het
Sec23b	T	C	2: 144,569,217		probably null	Het
Sgcb	A	T	5: 73,644,318	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,414,433		probably benign	Het
Slc25a48	C	T	13: 56,463,706	P209S	probably damaging	Het
Slurp1	G	A	15: 74,726,914	S76L	probably damaging	Het
Spen	T	C	4: 141,475,658	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,807,629	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,396,308	L280M	probably damaging	Het
Stard10	A	G	7: 101,342,640	Y117C	probably damaging	Het
Stard13	A	T	5: 151,045,109		probably null	Het
Stim2	G	T	5: 54,105,331	R305L	possibly damaging	Het
Syt14	G	A	1: 192,930,588	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,545,621		probably benign	Het
Ttn	T	C	2: 76,745,351	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,565,716	T493A	probably benign	Het
Ugt2b34	A	G	5: 86,891,299	L501P	probably damaging	Het
Umod	T	C	7: 119,469,477	I449V	probably damaging	Het
Vmn2r51	C	A	7: 10,100,026	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,516,144	T2910P	probably benign	Het
Zscan20	A	G	4: 128,604,522	S28P	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
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
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
R9111:Slc9a3	UTSW	13	74150801	missense	probably damaging	1.00
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCATCCAAGCAGTCCTGAG -3'
(R):5'- TGTGACTGGGTTTCACTAGCC -3'

Sequencing Primer
(F):5'- CTGAGGCAGGAAGGGACTATG -3'
(R):5'- ACTAGCCATCCCTGTGGAC -3'

Posted On

2021-08-31