Mutagenetix > Incidental Mutation

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

NHE4, D730009J23Rik

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40619241-40669885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40639936 bp (GRCm39)

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: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	possibly damaging	Het

Other mutations in Slc9a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc9a4	APN	1	40,668,565 (GRCm39)	missense	probably benign	0.01
IGL01802:Slc9a4	APN	1	40,646,958 (GRCm39)	missense	probably damaging	1.00
IGL01909:Slc9a4	APN	1	40,651,451 (GRCm39)	splice site	probably benign
IGL02137:Slc9a4	APN	1	40,640,059 (GRCm39)	missense	possibly damaging	0.79
IGL02399:Slc9a4	APN	1	40,639,942 (GRCm39)	missense	probably benign	0.00
IGL02685:Slc9a4	APN	1	40,668,742 (GRCm39)	missense	probably benign
IGL02874:Slc9a4	APN	1	40,623,198 (GRCm39)	missense	probably benign	0.02
IGL02892:Slc9a4	APN	1	40,623,204 (GRCm39)	missense	possibly damaging	0.64
IGL03028:Slc9a4	APN	1	40,649,537 (GRCm39)	missense	probably benign	0.06
IGL03083:Slc9a4	APN	1	40,668,562 (GRCm39)	missense	probably benign	0.00
IGL03124:Slc9a4	APN	1	40,619,895 (GRCm39)	missense	probably damaging	0.99
IGL03144:Slc9a4	APN	1	40,651,362 (GRCm39)	missense	probably damaging	1.00
IGL03286:Slc9a4	APN	1	40,619,928 (GRCm39)	missense	probably null	0.99
R0601:Slc9a4	UTSW	1	40,642,230 (GRCm39)	missense	probably damaging	1.00
R1118:Slc9a4	UTSW	1	40,623,490 (GRCm39)	splice site	probably benign
R1583:Slc9a4	UTSW	1	40,640,122 (GRCm39)	missense	probably benign	0.01
R1752:Slc9a4	UTSW	1	40,668,421 (GRCm39)	missense	probably benign	0.00
R1776:Slc9a4	UTSW	1	40,668,447 (GRCm39)	missense	probably benign	0.00
R1785:Slc9a4	UTSW	1	40,646,901 (GRCm39)	splice site	probably null
R1786:Slc9a4	UTSW	1	40,646,901 (GRCm39)	splice site	probably null
R2131:Slc9a4	UTSW	1	40,646,901 (GRCm39)	splice site	probably null
R2132:Slc9a4	UTSW	1	40,646,901 (GRCm39)	splice site	probably null
R2133:Slc9a4	UTSW	1	40,646,901 (GRCm39)	splice site	probably null
R3785:Slc9a4	UTSW	1	40,623,130 (GRCm39)	missense	probably damaging	1.00
R4223:Slc9a4	UTSW	1	40,658,286 (GRCm39)	missense	probably damaging	0.98
R4567:Slc9a4	UTSW	1	40,619,737 (GRCm39)	missense	probably damaging	0.99
R4605:Slc9a4	UTSW	1	40,640,195 (GRCm39)	splice site	probably null
R4641:Slc9a4	UTSW	1	40,646,285 (GRCm39)	missense	probably damaging	1.00
R5407:Slc9a4	UTSW	1	40,646,954 (GRCm39)	missense	probably benign	0.41
R5823:Slc9a4	UTSW	1	40,658,277 (GRCm39)	missense	probably damaging	0.97
R5877:Slc9a4	UTSW	1	40,651,423 (GRCm39)	missense	probably benign
R6389:Slc9a4	UTSW	1	40,619,844 (GRCm39)	missense	probably benign	0.00
R6430:Slc9a4	UTSW	1	40,640,014 (GRCm39)	nonsense	probably null
R6603:Slc9a4	UTSW	1	40,662,664 (GRCm39)	missense	probably benign	0.43
R6950:Slc9a4	UTSW	1	40,642,045 (GRCm39)	missense	probably damaging	1.00
R7102:Slc9a4	UTSW	1	40,662,559 (GRCm39)	missense	probably damaging	1.00
R7102:Slc9a4	UTSW	1	40,619,799 (GRCm39)	missense	probably benign	0.00
R7230:Slc9a4	UTSW	1	40,639,931 (GRCm39)	missense	probably damaging	1.00
R7313:Slc9a4	UTSW	1	40,668,663 (GRCm39)	missense	probably benign	0.28
R7384:Slc9a4	UTSW	1	40,651,411 (GRCm39)	missense	probably benign	0.10
R7405:Slc9a4	UTSW	1	40,640,086 (GRCm39)	missense	probably damaging	1.00
R7770:Slc9a4	UTSW	1	40,640,123 (GRCm39)	missense	probably damaging	0.98
R8313:Slc9a4	UTSW	1	40,619,520 (GRCm39)	start gained	probably benign
R8724:Slc9a4	UTSW	1	40,623,301 (GRCm39)	missense	probably damaging	0.98
R8871:Slc9a4	UTSW	1	40,642,015 (GRCm39)	missense	probably damaging	1.00
R8926:Slc9a4	UTSW	1	40,619,928 (GRCm39)	missense	possibly damaging	0.71
R9244:Slc9a4	UTSW	1	40,658,249 (GRCm39)	missense	probably damaging	0.99
R9455:Slc9a4	UTSW	1	40,668,612 (GRCm39)	missense	probably benign	0.05
X0060:Slc9a4	UTSW	1	40,658,191 (GRCm39)	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