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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167263632-167318920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167299278 bp (GRCm39)

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: ENSMUST00000149607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148454

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: 11,272,143 (GRCm39)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,108,386 (GRCm39)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,669,422 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,286 (GRCm39)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,786,858 (GRCm39)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,191,248 (GRCm39)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 124,219,639 (GRCm39)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,728,196 (GRCm39)	T799M	probably benign	Het
Anxa2	T	C	9: 69,395,363 (GRCm39)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,681,172 (GRCm39)	T771A	probably benign	Het
Atp12a	T	C	14: 56,610,046 (GRCm39)	V182A	probably benign	Het
Birc6	T	C	17: 74,919,281 (GRCm39)	L210S	probably damaging	Het
Car3	A	G	3: 14,929,492 (GRCm39)	T73A	probably benign	Het
Cd5l	T	C	3: 87,275,966 (GRCm39)	L312P	probably damaging	Het
Celf5	A	G	10: 81,303,138 (GRCm39)		probably benign	Het
Cep290	T	A	10: 100,332,672 (GRCm39)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,211,693 (GRCm39)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,787,271 (GRCm39)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,763,135 (GRCm39)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,648,357 (GRCm39)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,573,792 (GRCm39)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,818,963 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,114,486 (GRCm39)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,553,594 (GRCm39)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,796,294 (GRCm39)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,610,018 (GRCm39)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,538,921 (GRCm39)	I56K	probably benign	Het
Gria2	G	T	3: 80,598,645 (GRCm39)	S796R	probably benign	Het
Hectd4	T	A	5: 121,429,254 (GRCm39)		probably benign	Het
Hgfac	T	C	5: 35,200,194 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,247,467 (GRCm39)	R1200W	probably damaging	Het
Ift52	G	A	2: 162,867,275 (GRCm39)	D78N	possibly damaging	Het
Iqca1	C	A	1: 90,009,138 (GRCm39)	W415L	probably damaging	Het
Ism1	A	T	2: 139,587,963 (GRCm39)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,502,988 (GRCm39)	W43*	probably null	Het
Kcnk18	T	A	19: 59,223,773 (GRCm39)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,497,903 (GRCm39)	K248E	probably damaging	Het
Layn	T	A	9: 50,970,833 (GRCm39)	I237F	probably benign	Het
Lce3f	C	T	3: 92,900,248 (GRCm39)	P23L	unknown	Het
Lct	A	G	1: 128,228,038 (GRCm39)	F1152L	probably damaging	Het
Mettl25b	A	G	3: 87,831,124 (GRCm39)	S404P	probably damaging	Het
Mxra8	T	C	4: 155,927,531 (GRCm39)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,471,438 (GRCm39)	V187A	probably benign	Het
Net1	A	G	13: 3,937,642 (GRCm39)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,284,781 (GRCm39)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,052,647 (GRCm39)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,005,789 (GRCm39)	H524L	possibly damaging	Het
Nup98	A	C	7: 101,784,144 (GRCm39)	S1063A	probably benign	Het
Or10ak11	T	A	4: 118,687,065 (GRCm39)	M191L	probably benign	Het
Or11h4b	G	T	14: 50,918,623 (GRCm39)	P156Q	possibly damaging	Het
Or56b1	G	A	7: 104,285,366 (GRCm39)	V162I	probably benign	Het
Or5b97	C	A	19: 12,878,599 (GRCm39)	V182F	probably benign	Het
Or5m9b	G	A	2: 85,905,104 (GRCm39)	V7I	possibly damaging	Het
Or6d15	T	C	6: 116,559,925 (GRCm39)		probably benign	Het
Pdzd2	G	A	15: 12,592,546 (GRCm39)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,160,860 (GRCm39)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,821,086 (GRCm39)		probably null	Het
Rexo5	T	C	7: 119,444,634 (GRCm39)	V703A	probably benign	Het
Rgs4	A	G	1: 169,572,847 (GRCm39)	S30P	probably benign	Het
Rxra	C	A	2: 27,646,256 (GRCm39)	D340E	probably damaging	Het
Samhd1	A	G	2: 156,949,467 (GRCm39)	V473A	probably benign	Het
Scn3a	T	A	2: 65,302,686 (GRCm39)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,511,299 (GRCm39)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,130,166 (GRCm39)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,987,681 (GRCm39)		probably null	Het
Sema5b	A	G	16: 35,480,694 (GRCm39)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,817,217 (GRCm39)	N104D	probably benign	Het
Sfn	T	C	4: 133,328,542 (GRCm39)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,596,471 (GRCm39)		probably null	Het
Smc6	A	G	12: 11,359,270 (GRCm39)	N965D	probably benign	Het
Sod2	T	A	17: 13,233,919 (GRCm39)	I177N	probably damaging	Het
Sp4	A	T	12: 118,263,335 (GRCm39)	I237K	probably damaging	Het
Sulf2	T	C	2: 165,921,532 (GRCm39)	K697R	probably benign	Het
Svs4	A	T	2: 164,119,005 (GRCm39)	D110E	unknown	Het
Tas1r1	T	A	4: 152,122,675 (GRCm39)	R57*	probably null	Het
Tlr5	T	C	1: 182,801,287 (GRCm39)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,261,740 (GRCm39)	V606A	probably benign	Het
Tmem241	T	A	18: 12,251,469 (GRCm39)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,938,903 (GRCm39)	N90K	probably damaging	Het
Tram1	A	C	1: 13,646,680 (GRCm39)		probably benign	Het
Trim15	T	A	17: 37,176,061 (GRCm39)	H162L	probably benign	Het
Ttc28	T	A	5: 111,424,677 (GRCm39)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,946,671 (GRCm39)	V857A	probably benign	Het
Tulp4	A	G	17: 6,189,321 (GRCm39)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm39)	E939G	probably damaging	Het
Utp20	A	G	10: 88,606,670 (GRCm39)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,387,378 (GRCm39)	M729V	probably benign	Het
Vps13c	C	T	9: 67,788,729 (GRCm39)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,221,193 (GRCm39)	N97D	probably benign	Het
Xpo4	A	T	14: 57,841,129 (GRCm39)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,465,778 (GRCm39)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,897,823 (GRCm39)	C83F	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
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
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'- CAGAAACCACCTCAGTGTCTG -3'
(R):5'- ACAAAATTGGGTCCCTGAGG -3'

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

Posted On

2014-06-23