Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Slc9a4'

599416

Institutional Source

Beutler Lab

Gene Symbol

Slc9a4

Ensembl Gene

ENSMUSG00000026065

Gene Name

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

Synonyms

D730009J23Rik, NHE4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40580081-40630725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40600776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 243 (Y243H)

Ref Sequence

ENSEMBL: ENSMUSP00000027233 (fasta)

Gene Model

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

AlphaFold

Q8BUE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027233
AA Change: Y243H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: Y243H

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTAATTCACATCCCCACC -3'
(R):5'- AGACGATGAGGGGCTCAATC -3'

Sequencing Primer
(F):5'- TGTCATGCGCTCAATTATGAAACCC -3'
(R):5'- GGCTCAATCGCAGAGATGTTC -3'

Posted On

2019-11-26