Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Slc9a8'

426101

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

042967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

167263632-167318920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167309642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 335 (F335L)

Ref Sequence

ENSEMBL: ENSMUSP00000104841 (fasta)

Gene Model

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

AlphaFold

Q8R4D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000047815
AA Change: F366L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: F366L

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: F339L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: F339L

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: F335L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: F335L

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: ENSMUST00000155585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149607

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Slc9a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Slc9a8	APN	2	167,266,086 (GRCm39)	missense	possibly damaging	0.46
IGL02626:Slc9a8	APN	2	167,309,597 (GRCm39)	splice site	probably benign
costello	UTSW	2	167,293,216 (GRCm39)	missense	probably damaging	1.00
R0270:Slc9a8	UTSW	2	167,293,216 (GRCm39)	missense	probably damaging	1.00
R0417:Slc9a8	UTSW	2	167,299,264 (GRCm39)	missense	probably benign	0.00
R0504:Slc9a8	UTSW	2	167,266,125 (GRCm39)	missense	probably benign
R0906:Slc9a8	UTSW	2	167,276,787 (GRCm39)	intron	probably benign
R1216:Slc9a8	UTSW	2	167,266,041 (GRCm39)	missense	probably benign	0.00
R1225:Slc9a8	UTSW	2	167,313,443 (GRCm39)	missense	probably benign	0.20
R1604:Slc9a8	UTSW	2	167,313,352 (GRCm39)	missense	probably benign	0.09
R1728:Slc9a8	UTSW	2	167,266,065 (GRCm39)	missense	probably benign	0.00
R1729:Slc9a8	UTSW	2	167,266,065 (GRCm39)	missense	probably benign	0.00
R1773:Slc9a8	UTSW	2	167,313,385 (GRCm39)	missense	possibly damaging	0.57
R1775:Slc9a8	UTSW	2	167,299,278 (GRCm39)	missense	probably benign	0.12
R1918:Slc9a8	UTSW	2	167,266,134 (GRCm39)	missense	possibly damaging	0.95
R2312:Slc9a8	UTSW	2	167,293,196 (GRCm39)	missense	probably benign	0.01
R3031:Slc9a8	UTSW	2	167,293,201 (GRCm39)	missense	probably damaging	1.00
R3752:Slc9a8	UTSW	2	167,299,272 (GRCm39)	missense	probably benign
R3757:Slc9a8	UTSW	2	167,266,050 (GRCm39)	missense	probably benign	0.01
R4499:Slc9a8	UTSW	2	167,266,113 (GRCm39)	missense	probably benign	0.01
R4746:Slc9a8	UTSW	2	167,283,090 (GRCm39)	nonsense	probably null
R4904:Slc9a8	UTSW	2	167,313,316 (GRCm39)	missense	possibly damaging	0.51
R4969:Slc9a8	UTSW	2	167,288,449 (GRCm39)	missense	probably benign	0.06
R5811:Slc9a8	UTSW	2	167,313,307 (GRCm39)	nonsense	probably null
R5908:Slc9a8	UTSW	2	167,293,090 (GRCm39)	intron	probably benign
R6311:Slc9a8	UTSW	2	167,293,140 (GRCm39)	missense	probably damaging	1.00
R6443:Slc9a8	UTSW	2	167,276,741 (GRCm39)	missense	probably benign	0.00
R6494:Slc9a8	UTSW	2	167,266,211 (GRCm39)	missense	probably damaging	1.00
R7161:Slc9a8	UTSW	2	167,307,303 (GRCm39)	missense	possibly damaging	0.90
R7322:Slc9a8	UTSW	2	167,293,222 (GRCm39)	missense	probably damaging	1.00
R7354:Slc9a8	UTSW	2	167,316,051 (GRCm39)	missense	possibly damaging	0.93
R7896:Slc9a8	UTSW	2	167,307,278 (GRCm39)	missense	probably benign	0.07
R8095:Slc9a8	UTSW	2	167,310,891 (GRCm39)	missense	probably damaging	0.99
R8725:Slc9a8	UTSW	2	167,315,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGTGGTAGTAAGGAAGC -3'
(R):5'- AGGTCACTGAAACTGTAAACACTG -3'

Sequencing Primer
(F):5'- TCAAGGCTTGCCTGGTCAAATAG -3'
(R):5'- TCACTGAAACTGTAAACACTGAGATC -3'

Posted On

2016-08-04