Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Slc9a4'

408271

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 #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

40580081-40630725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40610377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 517 (V517M)

Ref Sequence

ENSEMBL: ENSMUSP00000027233 (fasta)

Gene Model

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

AlphaFold

Q8BUE1

Predicted Effect

probably benign
Transcript: ENSMUST00000027233
AA Change: V517M

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: V517M

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,594,762	V86G	probably benign	Het
Adgra3	A	T	5: 50,016,852	W115R	probably benign	Het
Ahr	G	A	12: 35,504,710	A470V	probably benign	Het
AI481877	A	C	4: 59,094,274	I150S	possibly damaging	Het
Aoah	A	T	13: 20,816,582	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 43,026,228	D100E	possibly damaging	Het
Asic1	A	G	15: 99,672,157	N120D	probably benign	Het
Atp2b2	A	G	6: 113,759,142	L988P	probably damaging	Het
Atxn2	T	A	5: 121,810,909	H789Q	probably damaging	Het
Clk1	G	T	1: 58,421,102	S123*	probably null	Het
Col10a1	C	T	10: 34,395,016	A328V	probably benign	Het
Col26a1	G	T	5: 136,743,118	D415E	possibly damaging	Het
Ctla2a	A	G	13: 60,935,459		probably benign	Het
Cwf19l2	A	G	9: 3,430,622	E318G	probably benign	Het
Dnajc16	C	T	4: 141,767,732	W523*	probably null	Het
Ehhadh	T	C	16: 21,762,394	E616G	probably damaging	Het
F5	A	T	1: 164,193,000	K1015*	probably null	Het
Fam78a	A	G	2: 32,082,882	W9R	possibly damaging	Het
Frs2	A	T	10: 117,073,933	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111	M200L	probably benign	Het
Gm44511	T	C	6: 128,780,395	S179G	probably damaging	Het
Gpr25	G	A	1: 136,260,812	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,909,203		probably null	Het
Kl	A	G	5: 150,991,550	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,110,751	V45G	probably damaging	Het
Mppe1	A	C	18: 67,227,684	C261W	probably damaging	Het
Nin	T	C	12: 70,035,270	T1640A	probably benign	Het
Olfr368	C	T	2: 37,331,956	L70F	probably damaging	Het
Olfr483	T	A	7: 108,104,173	M288K	probably damaging	Het
Olfr570	T	A	7: 102,900,829	I154N	possibly damaging	Het
Olfr616	A	G	7: 103,564,589		probably null	Het
Olfr844	A	T	9: 19,319,368	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,817,163	N166D	probably damaging	Het
Pank4	T	A	4: 154,969,985		probably benign	Het
Pgd	A	G	4: 149,161,627		probably null	Het
Pitrm1	C	T	13: 6,574,393	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rad51	A	C	2: 119,116,314	M1L	possibly damaging	Het
Recql5	G	T	11: 115,894,431	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,323,461	Q133*	probably null	Het
Rpp40	A	T	13: 35,904,511	L59Q	probably damaging	Het
Rtca	C	A	3: 116,493,092		probably benign	Het
Rtkn	C	T	6: 83,147,872	Q108*	probably null	Het
Sirt6	C	T	10: 81,627,541		probably benign	Het
Smarca2	G	T	19: 26,678,312		probably benign	Het
Snx33	A	T	9: 56,926,451	D111E	probably benign	Het
Tgfb1	T	C	7: 25,704,196	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,630,609		probably null	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,395,642	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,593	T47A	probably benign	Het
Unc79	T	C	12: 103,173,526	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,953,624	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,694,066	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,955,913	I79L	possibly damaging	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
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
IGL03286:Slc9a4	APN	1	40580768	missense	probably null	0.99
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
R9455:Slc9a4	UTSW	1	40629452	missense	probably benign	0.05
X0060:Slc9a4	UTSW	1	40619031	splice site	probably null

Posted On

2016-08-02