Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Slc9a8'

568201

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

045417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167263632-167318920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167293222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 217 (V217E)

Ref Sequence

ENSEMBL: ENSMUSP00000044185 (fasta)

Gene Model

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

AlphaFold

Q8R4D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000047815
AA Change: V217E

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

SMART Domains

Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: V217E

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: V190E

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

SMART Domains

Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: V190E

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: V190E

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

SMART Domains

Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: V190E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly 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
R5395:Slc9a8	UTSW	2	167,309,642 (GRCm39)	missense	probably damaging	0.99
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
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'- AAACCAGGCTCAGCACTGTG -3'
(R):5'- GTCACACACTCCTGAGGCAC -3'

Sequencing Primer
(F):5'- AGGCTCAGCACTGTGTCCTG -3'
(R):5'- TTGACCACATAGGGACCA -3'

Posted On

2019-06-26