Mutagenetix > Incidental Mutations

Incidental Mutation 'R8080:Slc9a3'

629302

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 #

R8080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74166027 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 818 (Q818P)

Ref Sequence

ENSEMBL: ENSMUSP00000038142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]

Predicted Effect

probably benign
Transcript: ENSMUST00000035934

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

Domain	Start	End	E-Value	Type
Pfam:Sec6	187	743	1.7e-162	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036208
AA Change: Q818P

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: Q818P

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 benign
Transcript: ENSMUST00000221703
AA Change: Q818P

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,133,074	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,807,338	N226D	probably damaging	Het
Bcl2l11	T	C	2: 128,128,666	C12R	probably damaging	Het
Bpnt1	A	G	1: 185,352,209	T168A	probably damaging	Het
Brca2	A	T	5: 150,539,892	E1040D	probably benign	Het
Cdca2	G	A	14: 67,677,555	Q752*	probably null	Het
Cntn2	T	C	1: 132,521,798	D635G	probably damaging	Het
Cntnap5b	A	T	1: 100,072,203	I229F	probably benign	Het
Ctr9	G	A	7: 111,051,567	E900K	possibly damaging	Het
Dmbt1	A	G	7: 131,088,770	Y911C	unknown	Het
Egflam	T	A	15: 7,398,080	D2V	probably benign	Het
Enpep	A	T	3: 129,299,134	N505K	probably damaging	Het
Fam13a	A	G	6: 58,956,805	S267P	probably damaging	Het
Fam172a	T	A	13: 78,006,446	L316Q	probably damaging	Het
Fancc	G	T	13: 63,403,023	T12K		Het
Fbxo3	A	G	2: 104,033,667	Y89C	probably damaging	Het
Garem2	A	G	5: 30,108,387	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,693,023	T122A		Het
Gm3696	A	T	14: 7,089,870	L71*	probably null	Het
Gm4559	C	T	7: 142,273,816	R183K	unknown	Het
Gmip	A	T	8: 69,816,086	T454S	possibly damaging	Het
Helz2	T	A	2: 181,238,262	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrc	A	G	7: 45,336,838	E471G	probably damaging	Het
Hydin	A	G	8: 110,535,231	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,507,843	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,450,353	T37A	probably benign	Het
Kalrn	C	T	16: 33,975,668	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742	F285L	probably benign	Het
Lmna	A	G	3: 88,486,561	F237L	probably damaging	Het
Med12l	A	G	3: 59,265,186	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,446,910		probably null	Het
Myh1	T	A	11: 67,211,402	Y840N	probably benign	Het
Negr1	C	A	3: 157,160,720	A302E	probably damaging	Het
Nup188	T	C	2: 30,337,033	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,227,376	L1399P	probably damaging	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Olfr1254	T	A	2: 89,788,627	I242F	possibly damaging	Het
Olfr53	T	C	7: 140,652,474	M165T	probably benign	Het
Olfr810	T	C	10: 129,791,128	I154V	probably benign	Het
Olfr892-ps1	T	C	9: 38,190,589	L288S	unknown	Het
Pcdhb4	A	G	18: 37,309,296	D553G	probably benign	Het
Phip	A	G	9: 82,887,609	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,392,976	D1567G	probably benign	Het
Pigz	T	C	16: 31,942,040	C20R	probably damaging	Het
Plpp1	A	G	13: 112,867,468	K252R	probably benign	Het
Polr2a	A	T	11: 69,735,048	S1759T	unknown	Het
Rbm42	G	T	7: 30,645,711	P212T	unknown	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Slc35e1	G	A	8: 72,492,186	P134L	probably damaging	Het
St3gal4	T	C	9: 35,106,321		probably null	Het
Stard3nl	G	T	13: 19,370,351	A151E	probably damaging	Het
Syt9	T	A	7: 107,436,790	I338N	probably benign	Het
Ticrr	A	T	7: 79,684,264		probably null	Het
Tlr4	T	A	4: 66,839,476	Y169N	probably damaging	Het
Tnc	A	C	4: 63,976,469	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,697,907	D644Y	probably benign	Het
Utp20	A	G	10: 88,782,715	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 42,141,097	M503V	probably benign	Het
Zfp384	T	C	6: 125,036,558	S530P	unknown	Het
Zfp600	T	A	4: 146,196,612	C617S	unknown	Het
Zfp819	A	G	7: 43,617,724	R544G	probably damaging	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
R8158:Slc9a3	UTSW	13	74155122	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74164288	missense	probably benign	0.01
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTTCTCCCCTGATGAGGATC -3'
(R):5'- AAGAGCTCTGTGGACAAGC -3'

Sequencing Primer
(F):5'- TGAGGATCTGGACCCAAGCATC -3'
(R):5'- CTCTGTGGACAAGCAGGTTCTAAG -3'

Posted On

2020-06-30