Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Slc9a4'

177227

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

039620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40619241-40669885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40640122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 305 (I305F)

Ref Sequence

ENSEMBL: ENSMUSP00000027233 (fasta)

Gene Model

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

AlphaFold

Q8BUE1

Predicted Effect

probably benign
Transcript: ENSMUST00000027233
AA Change: I305F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: I305F

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: ENSMUST00000193371

Meta Mutation Damage Score

0.1059

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	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
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
R7784:Slc9a4	UTSW	1	40,639,936 (GRCm39)	missense	probably damaging	1.00
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'- TGTTAATCTCTGTGCCGTTGACTCG -3'
(R):5'- GGCAAAGGACCAGGTTCAGCTTTC -3'

Sequencing Primer
(F):5'- GTGAAGTCAAGAATCCATGTGTAAC -3'
(R):5'- GAAATTCTAAACCTTCCAGTGCCTC -3'

Posted On

2014-04-24