Mutagenetix > Incidental Mutation

Incidental Mutation 'R1752:Slc9a4'

193574

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

039784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1752 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40619241-40669885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40668421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 688 (F688S)

Ref Sequence

ENSEMBL: ENSMUSP00000027233 (fasta)

Gene Model

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

AlphaFold

Q8BUE1

Predicted Effect

probably benign
Transcript: ENSMUST00000027233
AA Change: F688S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: F688S

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: ENSMUST00000192454

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Accsl	C	T	2: 93,688,375 (GRCm39)	G420S	probably damaging	Het
Adam29	A	G	8: 56,325,309 (GRCm39)	S382P	probably damaging	Het
Apob	T	C	12: 8,038,766 (GRCm39)	L393P	probably benign	Het
Arhgef19	T	G	4: 140,978,354 (GRCm39)	S616A	probably benign	Het
Atp11a	C	T	8: 12,863,094 (GRCm39)	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,830,690 (GRCm39)	V751I	probably benign	Het
Ccni	T	C	5: 93,350,315 (GRCm39)		probably benign	Het
Cd2	G	A	3: 101,183,511 (GRCm39)	A266V	probably benign	Het
Cd33	T	C	7: 43,181,722 (GRCm39)	D146G	probably benign	Het
Cdh16	A	G	8: 105,346,505 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,963,494 (GRCm39)		probably null	Het
Chd5	A	T	4: 152,459,590 (GRCm39)	I1109F	probably damaging	Het
Cir1	T	C	2: 73,140,882 (GRCm39)	E29G	probably damaging	Het
Clec5a	T	C	6: 40,559,187 (GRCm39)	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,023 (GRCm39)	D250G	probably damaging	Het
Crybg2	T	A	4: 133,800,961 (GRCm39)	L707H	probably damaging	Het
Csmd3	T	C	15: 47,523,669 (GRCm39)	T2646A	probably benign	Het
Cul7	G	A	17: 46,964,093 (GRCm39)	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,869,597 (GRCm39)	I141F	probably damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Dclk2	C	T	3: 86,713,434 (GRCm39)	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,593,850 (GRCm39)	V530A	probably benign	Het
Dock7	A	G	4: 98,854,681 (GRCm39)	F1528L	probably damaging	Het
Edn1	T	A	13: 42,457,075 (GRCm39)	V36E	possibly damaging	Het
Eng	T	C	2: 32,563,404 (GRCm39)	V319A	probably benign	Het
Epb41l2	A	G	10: 25,336,690 (GRCm39)	K229E	probably damaging	Het
Fam184a	T	C	10: 53,550,666 (GRCm39)	N698S	probably benign	Het
Fndc7	T	C	3: 108,776,646 (GRCm39)	N465S	probably benign	Het
Fstl4	T	C	11: 53,077,622 (GRCm39)	V793A	probably benign	Het
Gm9797	A	T	10: 11,485,287 (GRCm39)		noncoding transcript	Het
Hsd17b4	T	C	18: 50,303,834 (GRCm39)	S436P	probably benign	Het
Itsn2	T	G	12: 4,761,950 (GRCm39)		probably null	Het
Kank3	T	C	17: 34,038,791 (GRCm39)	V570A	probably damaging	Het
Kif13a	A	T	13: 46,951,885 (GRCm39)	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,532,586 (GRCm39)	D1184E	probably benign	Het
Kif20a	A	G	18: 34,764,634 (GRCm39)	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,915,736 (GRCm39)	S504R	probably benign	Het
Lrrc37	T	C	11: 103,505,381 (GRCm39)	T2196A	possibly damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Luzp2	T	C	7: 54,914,088 (GRCm39)	S306P	possibly damaging	Het
Macf1	T	C	4: 123,377,465 (GRCm39)	I1490V	possibly damaging	Het
Manba	T	A	3: 135,212,706 (GRCm39)	W72R	probably damaging	Het
Mast1	A	G	8: 85,651,965 (GRCm39)	V339A	probably benign	Het
Mnx1	A	G	5: 29,682,727 (GRCm39)	S183P	unknown	Het
Muc5b	T	G	7: 141,421,488 (GRCm39)	L4326R	possibly damaging	Het
Myb	T	C	10: 21,032,336 (GRCm39)	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,390,338 (GRCm39)	D429V	probably damaging	Het
Neurod6	A	G	6: 55,656,511 (GRCm39)	V42A	probably benign	Het
Nfxl1	A	T	5: 72,698,218 (GRCm39)	C276S	probably damaging	Het
Nptx2	C	A	5: 144,492,171 (GRCm39)	T316N	probably damaging	Het
Nrp2	T	A	1: 62,777,600 (GRCm39)	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,686,837 (GRCm39)	F57Y	probably benign	Het
Or4c109	C	A	2: 88,817,659 (GRCm39)	A296S	possibly damaging	Het
Or51ag1	T	A	7: 103,155,765 (GRCm39)	R129S	probably benign	Het
Osbpl11	T	C	16: 33,025,205 (GRCm39)	Y144H	probably damaging	Het
Pax5	T	C	4: 44,609,729 (GRCm39)	Y233C	probably damaging	Het
Pck1	A	G	2: 172,998,906 (GRCm39)	N388S	probably benign	Het
Plcd3	T	A	11: 102,971,085 (GRCm39)	Q157L	probably benign	Het
Pnma2	A	C	14: 67,153,785 (GRCm39)	M70L	probably benign	Het
Pogk	T	C	1: 166,235,997 (GRCm39)	K35E	probably damaging	Het
Ptprb	T	A	10: 116,176,895 (GRCm39)	V1227E	probably benign	Het
Pygm	T	A	19: 6,441,064 (GRCm39)	V450E	probably damaging	Het
Rb1	T	A	14: 73,525,064 (GRCm39)	I190F	probably damaging	Het
Setd2	T	A	9: 110,423,673 (GRCm39)	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,303,687 (GRCm39)	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,905,259 (GRCm39)	L94P	probably damaging	Het
Slit3	A	T	11: 35,455,480 (GRCm39)	I196F	probably damaging	Het
Sprn	G	A	7: 139,733,408 (GRCm39)		probably benign	Het
Spsb2	A	G	6: 124,787,292 (GRCm39)	D242G	probably benign	Het
Srpk2	A	G	5: 23,733,017 (GRCm39)	I111T	probably damaging	Het
St8sia4	T	A	1: 95,519,537 (GRCm39)	Y317F	probably benign	Het
Stat5a	T	A	11: 100,774,884 (GRCm39)	*798K	probably null	Het
Sult1c2	C	T	17: 54,271,777 (GRCm39)	V137M	possibly damaging	Het
Synj1	T	C	16: 90,735,361 (GRCm39)	T1531A	probably benign	Het
Tasor	T	A	14: 27,193,885 (GRCm39)	Y1028*	probably null	Het
Tax1bp1	A	G	6: 52,698,398 (GRCm39)	T37A	probably damaging	Het
Tet1	T	A	10: 62,648,768 (GRCm39)	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311 (GRCm39)	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,341,741 (GRCm39)	D5A	probably benign	Het
Tnk1	T	A	11: 69,747,532 (GRCm39)	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,662,162 (GRCm39)	S120T	probably damaging	Het
Ttn	T	A	2: 76,774,448 (GRCm39)	T2153S	probably damaging	Het
Ttn	A	G	2: 76,594,606 (GRCm39)	V20480A	probably damaging	Het
Usp4	T	C	9: 108,251,441 (GRCm39)	Y539H	probably damaging	Het
Zar1	A	C	5: 72,734,715 (GRCm39)	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,953,899 (GRCm39)	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,737,863 (GRCm39)	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,271,639 (GRCm39)	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,062,479 (GRCm39)	N107K	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
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'- TCCAAAGTCAAAGCGGTGGAACTC -3'
(R):5'- GTCCATCTGGACAGGATTGCTGAG -3'

Sequencing Primer
(F):5'- gcggctcatacctgtaatctc -3'
(R):5'- CTGCATAGAACAGCGGCTTG -3'

Posted On

2014-05-23