Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Slc9a8'

204299

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

039806-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167421712-167477000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167457358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 217 (S217P)

Ref Sequence

ENSEMBL: ENSMUSP00000104841 (fasta)

Gene Model

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

AlphaFold

Q8R4D1

Predicted Effect

probably benign
Transcript: ENSMUST00000047815
AA Change: S244P

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: S244P

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 benign
Transcript: ENSMUST00000073873
AA Change: S217P

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: S217P

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 benign
Transcript: ENSMUST00000109218
AA Change: S217P

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: S217P

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: 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

0.0826

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558		probably null	Het
4933427I04Rik	A	G	4: 123,860,493	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304		probably benign	Het
Cep290	T	A	10: 100,496,810	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704		probably null	Het
Evpl	T	C	11: 116,223,660	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191		probably benign	Het
Hgfac	T	C	5: 35,042,850		probably benign	Het
Hspg2	C	T	4: 137,520,156	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941	P23L	unknown	Het
Lct	A	G	1: 128,300,301	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962	V187A	probably benign	Het
Net1	A	G	13: 3,887,642	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868	M191L	probably benign	Het
Olfr1447	C	A	19: 12,901,235	V182F	probably benign	Het
Olfr215	T	C	6: 116,582,964		probably benign	Het
Olfr657	G	A	7: 104,636,159	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348		probably null	Het
Rexo5	T	C	7: 119,845,411	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242		probably null	Het
Sema5b	A	G	16: 35,660,324	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107		probably null	Het
Smc6	A	G	12: 11,309,269	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456		probably benign	Het
Trim15	T	A	17: 36,865,169	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340		probably benign	Het
Xpo1	A	G	11: 23,271,193	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704	C83F	probably damaging	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
R0270:Slc9a8	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
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'- CAGAAACCACCTCAGTGTCTG -3'
(R):5'- ACAAAATTGGGTCCCTGAGG -3'

Sequencing Primer
(F):5'- GAGCGATACTCAGCTGAT -3'
(R):5'- TTGGGTCCCTGAGGAAGCAG -3'

Posted On

2014-06-23