Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Slc9a4'

415704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9a4

Ensembl Gene

ENSMUSG00000026065

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 4

Synonyms

D730009J23Rik, NHE4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

40580081-40630725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40580768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 85 (I85V)

Ref Sequence

ENSEMBL: ENSMUSP00000027233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027233]

AlphaFold

Q8BUE1

Predicted Effect

probably null
Transcript: ENSMUST00000027233
AA Change: I85V

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

SMART Domains

Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: I85V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_H_Exchanger	73	477	1.6e-90	PFAM
PDB:2E30\|B	481	516	9e-8	PDB
Pfam:NEXCaM_BD	566	675	8.1e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194262

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Slc9a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc9a4	APN	1	40629405	missense	probably benign	0.01
IGL01802:Slc9a4	APN	1	40607798	missense	probably damaging	1.00
IGL01909:Slc9a4	APN	1	40612291	splice site	probably benign
IGL02137:Slc9a4	APN	1	40600899	missense	possibly damaging	0.79
IGL02399:Slc9a4	APN	1	40600782	missense	probably benign	0.00
IGL02685:Slc9a4	APN	1	40629582	missense	probably benign
IGL02874:Slc9a4	APN	1	40584038	missense	probably benign	0.02
IGL02892:Slc9a4	APN	1	40584044	missense	possibly damaging	0.64
IGL03028:Slc9a4	APN	1	40610377	missense	probably benign	0.06
IGL03083:Slc9a4	APN	1	40629402	missense	probably benign	0.00
IGL03124:Slc9a4	APN	1	40580735	missense	probably damaging	0.99
IGL03144:Slc9a4	APN	1	40612202	missense	probably damaging	1.00
R0601:Slc9a4	UTSW	1	40603070	missense	probably damaging	1.00
R1118:Slc9a4	UTSW	1	40584330	splice site	probably benign
R1583:Slc9a4	UTSW	1	40600962	missense	probably benign	0.01
R1752:Slc9a4	UTSW	1	40629261	missense	probably benign	0.00
R1776:Slc9a4	UTSW	1	40629287	missense	probably benign	0.00
R1785:Slc9a4	UTSW	1	40607741	splice site	probably null
R1786:Slc9a4	UTSW	1	40607741	splice site	probably null
R2131:Slc9a4	UTSW	1	40607741	splice site	probably null
R2132:Slc9a4	UTSW	1	40607741	splice site	probably null
R2133:Slc9a4	UTSW	1	40607741	splice site	probably null
R3785:Slc9a4	UTSW	1	40583970	missense	probably damaging	1.00
R4223:Slc9a4	UTSW	1	40619126	missense	probably damaging	0.98
R4567:Slc9a4	UTSW	1	40580577	missense	probably damaging	0.99
R4605:Slc9a4	UTSW	1	40601035	splice site	probably null
R4641:Slc9a4	UTSW	1	40607125	missense	probably damaging	1.00
R5407:Slc9a4	UTSW	1	40607794	missense	probably benign	0.41
R5823:Slc9a4	UTSW	1	40619117	missense	probably damaging	0.97
R5877:Slc9a4	UTSW	1	40612263	missense	probably benign
R6389:Slc9a4	UTSW	1	40580684	missense	probably benign	0.00
R6430:Slc9a4	UTSW	1	40600854	nonsense	probably null
R6603:Slc9a4	UTSW	1	40623504	missense	probably benign	0.43
R6950:Slc9a4	UTSW	1	40602885	missense	probably damaging	1.00
R7102:Slc9a4	UTSW	1	40580639	missense	probably benign	0.00
R7102:Slc9a4	UTSW	1	40623399	missense	probably damaging	1.00
R7230:Slc9a4	UTSW	1	40600771	missense	probably damaging	1.00
R7313:Slc9a4	UTSW	1	40629503	missense	probably benign	0.28
R7384:Slc9a4	UTSW	1	40612251	missense	probably benign	0.10
R7405:Slc9a4	UTSW	1	40600926	missense	probably damaging	1.00
R7770:Slc9a4	UTSW	1	40600963	missense	probably damaging	0.98
R7784:Slc9a4	UTSW	1	40600776	missense	probably damaging	1.00
R8313:Slc9a4	UTSW	1	40580360	start gained	probably benign
R8724:Slc9a4	UTSW	1	40584141	missense	probably damaging	0.98
R8871:Slc9a4	UTSW	1	40602855	missense	probably damaging	1.00
R8926:Slc9a4	UTSW	1	40580768	missense	possibly damaging	0.71
R9244:Slc9a4	UTSW	1	40619089	missense	probably damaging	0.99
X0060:Slc9a4	UTSW	1	40619031	splice site	probably null

Posted On

2016-08-02