Mutagenetix > Incidental Mutations

Incidental Mutation 'R0270:Slc9a8'

35189

Institutional Source

Beutler Lab

Gene Symbol

Slc9a8

Ensembl Gene

ENSMUSG00000039463

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 8

Synonyms

1200006P13Rik, 6430709P13Rik, NHE8

MMRRC Submission

038496-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0270 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

167421712-167477000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167451296 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 188 (M188K)

Ref Sequence

ENSEMBL: ENSMUSP00000104841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047815
AA Change: M215K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: M215K

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
Pfam:Na_H_Exchanger	57	468	3.3e-69	PFAM
low complexity region	497	513	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073873
AA Change: M188K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: M188K

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
Pfam:Na_H_Exchanger	54	441	3.5e-62	PFAM
low complexity region	470	486	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109218
AA Change: M188K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: M188K

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
Pfam:Na_H_Exchanger	54	437	3.7e-61	PFAM
low complexity region	466	482	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155585

Meta Mutation Damage Score

0.9531

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

MGI Phenotype

FUNCTION: This gene encodes a member of the Na+/H+ exchanger (NHE) family of integral membrane transporter proteins. The encoded protein is expressed on the apical membrane of the intestinal epithelial cells and plays an important role in mucosal protection. Loss of the encoded protein in mice results in a decrease in the number of goblet and mucin-positive cells, disorganization of the mucin layer, and a decrease in mucosal pH in the colon. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility, impaired mucin synthesis and bicarbonate secretion in the colon, abnormal blood coagulation and increased length of the small intestine, cecum and ileum crypts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,166,176		probably benign	Het
4922502D21Rik	A	T	6: 129,325,608	L152*	probably null	Het
Abcf3	T	A	16: 20,560,168		probably null	Het
Acadm	C	T	3: 153,936,324	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,556,824	R739Q	probably damaging	Het
Ank1	T	A	8: 23,088,925		probably benign	Het
Ap3b1	T	A	13: 94,404,118		probably benign	Het
Arhgdib	A	G	6: 136,926,734	V31A	probably damaging	Het
Arid4a	A	G	12: 71,072,632	R342G	probably damaging	Het
Asic3	C	T	5: 24,417,702	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,342,151	P242L	possibly damaging	Het
AY761185	T	A	8: 20,944,600	E37D	possibly damaging	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Batf	A	T	12: 85,708,672	T100S	probably benign	Het
Blcap	A	T	2: 157,557,977	Y59*	probably null	Het
Cacnb3	G	A	15: 98,642,559	A350T	probably damaging	Het
Cdk15	T	A	1: 59,310,806	V319D	probably damaging	Het
Cenpf	T	C	1: 189,650,714	H2661R	probably benign	Het
Cenpq	T	C	17: 40,930,050	E106G	probably damaging	Het
Cfap43	A	G	19: 47,797,203		probably benign	Het
Cfb	G	A	17: 34,860,386	S778L	possibly damaging	Het
Clspn	T	A	4: 126,573,236	N631K	probably damaging	Het
Cntn2	T	A	1: 132,521,724	T660S	probably damaging	Het
Cntrob	T	A	11: 69,311,341	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,674,104	I863T	probably benign	Het
Dnah11	G	A	12: 118,041,013	T2191I	probably damaging	Het
Dock9	T	C	14: 121,575,999	T1703A	probably benign	Het
Fam13c	C	T	10: 70,544,513	P424S	probably benign	Het
Fan1	T	C	7: 64,348,871	N968D	probably benign	Het
Fbxl20	A	T	11: 98,098,503		probably benign	Het
Fkbp1b	A	T	12: 4,838,229		probably benign	Het
G930045G22Rik	T	A	6: 50,847,059		noncoding transcript	Het
Gm28042	C	A	2: 120,041,592	R1008S	probably benign	Het
Gm6614	T	A	6: 141,972,411	I580F	possibly damaging	Het
Gm8298	T	A	3: 59,877,019	N304K	probably benign	Het
Gon4l	G	A	3: 88,858,400	S376N	probably damaging	Het
Gstt3	C	A	10: 75,780,915	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,752,174	S73T	possibly damaging	Het
H2afy	G	A	13: 56,096,114		probably benign	Het
Hhatl	A	G	9: 121,784,720	S419P	probably benign	Het
Hirip3	T	G	7: 126,863,191	S46R	probably damaging	Het
Hsf2	A	G	10: 57,502,639	T204A	probably benign	Het
Impg2	G	A	16: 56,269,015	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,422,930		probably benign	Het
Itih5	A	T	2: 10,251,264	N847I	probably benign	Het
Kif1a	T	C	1: 93,054,442		probably benign	Het
Klhl1	T	A	14: 96,518,344		probably benign	Het
Ktn1	T	A	14: 47,714,662	D963E	probably benign	Het
Lclat1	T	A	17: 73,240,027	V313E	probably benign	Het
Lrrn4	T	C	2: 132,870,719	S395G	probably benign	Het
Mbtps1	G	A	8: 119,538,117		probably benign	Het
Me1	A	G	9: 86,596,204		probably benign	Het
Mov10	C	A	3: 104,795,405	C948F	probably benign	Het
Mterf1a	G	A	5: 3,890,990	Q293*	probably null	Het
Nfkb2	A	T	19: 46,311,626	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,551,870	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,739,020	Y331N	possibly damaging	Het
Nup214	C	T	2: 32,034,814	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,329,256	T138I	probably benign	Het
Olfr1461	A	G	19: 13,165,887	Y291C	probably damaging	Het
Olfr1489	A	G	19: 13,633,684	Y191C	probably damaging	Het
Olfr202	A	G	16: 59,283,753	V248A	probably damaging	Het
Olfr829	T	A	9: 18,856,831	Y60N	probably damaging	Het
Plod2	G	T	9: 92,584,521	R178L	probably benign	Het
Polr3b	T	A	10: 84,718,475	L1017Q	probably benign	Het
Postn	C	A	3: 54,384,550	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,317,976		probably benign	Het
Prpf8	T	G	11: 75,505,249	L1983R	probably damaging	Het
Psma7	A	G	2: 180,039,400	V59A	probably benign	Het
Qser1	T	A	2: 104,788,961	Y502F	probably benign	Het
Rad50	T	C	11: 53,668,025	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,674,729	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,133,689	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,252,266	C73R	probably benign	Het
Rnf216	T	A	5: 143,080,241	I474F	possibly damaging	Het
Sdha	A	T	13: 74,332,247	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,084,566	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,104,081	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,410,527	V316A	probably damaging	Het
Slc12a4	A	T	8: 105,945,389	I897N	probably benign	Het
Slc35d1	A	T	4: 103,190,838	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,690,932	K200N	possibly damaging	Het
Snrnp200	T	C	2: 127,232,982	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,710,725	*618W	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tdpoz3	A	G	3: 93,826,924	N302S	probably benign	Het
Tdrd6	T	C	17: 43,624,308	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,564,313		probably benign	Het
Trip4	A	T	9: 65,858,358	I353K	probably damaging	Het
Trip6	A	T	5: 137,312,841	F204L	probably benign	Het
Trpm4	T	A	7: 45,319,253	I419F	possibly damaging	Het
Ttn	C	A	2: 76,944,796	E1967D	probably damaging	Het
Uba2	C	T	7: 34,150,856	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,479,435		probably benign	Het
Upf1	G	A	8: 70,335,645		probably benign	Het
Vmn1r228	A	C	17: 20,776,596	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 87,003,386	M429V	probably benign	Het
Vps36	C	T	8: 22,210,456	T210I	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,281,591	G126D	probably benign	Het
Yipf5	C	A	18: 40,206,407		probably benign	Het
Zdhhc5	A	C	2: 84,690,115	S573A	probably benign	Het
Zfp457	A	T	13: 67,293,927	C99S	probably damaging	Het
Zfp52	T	A	17: 21,561,302	C471S	probably damaging	Het
Zfp558	C	T	9: 18,467,956	V71I	probably damaging	Het
Zfp651	A	G	9: 121,767,575	T666A	probably benign	Het
Zfp655	A	G	5: 145,244,457	Y375C	probably damaging	Het
Zfp882	A	T	8: 71,914,615	T429S	probably benign	Het
Zmym2	T	C	14: 56,949,684		probably null	Het

Other mutations in Slc9a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Slc9a8	APN	2	167424166	missense	possibly damaging	0.46
IGL02626:Slc9a8	APN	2	167467677	splice site	probably benign
costello	UTSW	2	167451296	missense	probably damaging	1.00
R0417:Slc9a8	UTSW	2	167457344	missense	probably benign	0.00
R0504:Slc9a8	UTSW	2	167424205	missense	probably benign
R0906:Slc9a8	UTSW	2	167434867	intron	probably benign
R1216:Slc9a8	UTSW	2	167424121	missense	probably benign	0.00
R1225:Slc9a8	UTSW	2	167471523	missense	probably benign	0.20
R1604:Slc9a8	UTSW	2	167471432	missense	probably benign	0.09
R1728:Slc9a8	UTSW	2	167424145	missense	probably benign	0.00
R1729:Slc9a8	UTSW	2	167424145	missense	probably benign	0.00
R1773:Slc9a8	UTSW	2	167471465	missense	possibly damaging	0.57
R1775:Slc9a8	UTSW	2	167457358	missense	probably benign	0.12
R1918:Slc9a8	UTSW	2	167424214	missense	possibly damaging	0.95
R2312:Slc9a8	UTSW	2	167451276	missense	probably benign	0.01
R3031:Slc9a8	UTSW	2	167451281	missense	probably damaging	1.00
R3752:Slc9a8	UTSW	2	167457352	missense	probably benign
R3757:Slc9a8	UTSW	2	167424130	missense	probably benign	0.01
R4499:Slc9a8	UTSW	2	167424193	missense	probably benign	0.01
R4746:Slc9a8	UTSW	2	167441170	nonsense	probably null
R4904:Slc9a8	UTSW	2	167471396	missense	possibly damaging	0.51
R4969:Slc9a8	UTSW	2	167446529	missense	probably benign	0.06
R5395:Slc9a8	UTSW	2	167467722	missense	probably damaging	0.99
R5811:Slc9a8	UTSW	2	167471387	nonsense	probably null
R5908:Slc9a8	UTSW	2	167451170	intron	probably benign
R6311:Slc9a8	UTSW	2	167451220	missense	probably damaging	1.00
R6443:Slc9a8	UTSW	2	167434821	missense	probably benign	0.00
R6494:Slc9a8	UTSW	2	167424291	missense	probably damaging	1.00
R7161:Slc9a8	UTSW	2	167465383	missense	possibly damaging	0.90
R7322:Slc9a8	UTSW	2	167451302	missense	probably damaging	1.00
R7354:Slc9a8	UTSW	2	167474131	missense	possibly damaging	0.93
R7896:Slc9a8	UTSW	2	167465358	missense	probably benign	0.07
R8095:Slc9a8	UTSW	2	167468971	missense	probably damaging	0.99
R8725:Slc9a8	UTSW	2	167473534	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAGAACAGAGTGTGGTGCAGC -3'
(R):5'- CTGTCAGAGTGGCAAGATGCAGTC -3'

Sequencing Primer
(F):5'- AACCAGGCTCAGCACTGTG -3'
(R):5'- CAGTCGTGAGTTGACCACATAG -3'

Posted On

2013-05-09