Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Slc24a4'

273677

Institutional Source

Beutler Lab

Gene Symbol

Slc24a4

Ensembl Gene

ENSMUSG00000041771

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

Synonyms

NCKX4, A930002M03Rik

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102128733-102267091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102234692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 278 (K278N)

Ref Sequence

ENSEMBL: ENSMUSP00000124513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079020] [ENSMUST00000159329]

AlphaFold

Q8CGQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000079020
AA Change: K280N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: K280N

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Na_Ca_ex	86	229	2.4e-31	PFAM
low complexity region	367	388	N/A	INTRINSIC
Pfam:Na_Ca_ex	435	587	2.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159329
AA Change: K278N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: K278N

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	245	1e-32	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	443	562	1.4e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000161325
AA Change: K277N

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: K277N

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	103	246	1.3e-31	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	433	585	1.3e-30	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	Het

Other mutations in Slc24a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Slc24a4	APN	12	102223635	missense	probably benign	0.09
IGL01724:Slc24a4	APN	12	102218960	missense	possibly damaging	0.78
IGL01767:Slc24a4	APN	12	102223687	splice site	probably benign
IGL01814:Slc24a4	APN	12	102254618	missense	probably benign	0.00
IGL02047:Slc24a4	APN	12	102254623	missense	probably damaging	1.00
IGL02449:Slc24a4	APN	12	102227082	missense	probably benign	0.00
IGL02632:Slc24a4	APN	12	102234682	missense	probably benign	0.15
IGL03251:Slc24a4	APN	12	102222825	missense	probably damaging	0.98
spindly	UTSW	12	102264944	critical splice donor site	probably null
R0207:Slc24a4	UTSW	12	102228951	critical splice donor site	probably null
R0284:Slc24a4	UTSW	12	102260481	missense	probably damaging	1.00
R0506:Slc24a4	UTSW	12	102131623	critical splice donor site	probably null
R1903:Slc24a4	UTSW	12	102131617	missense	probably benign	0.00
R2004:Slc24a4	UTSW	12	102213907	missense	probably damaging	1.00
R2126:Slc24a4	UTSW	12	102222759	missense	probably damaging	1.00
R2518:Slc24a4	UTSW	12	102222051	missense	probably benign	0.02
R3620:Slc24a4	UTSW	12	102218963	missense	probably damaging	1.00
R3621:Slc24a4	UTSW	12	102218963	missense	probably damaging	1.00
R4917:Slc24a4	UTSW	12	102264944	critical splice donor site	probably null
R5028:Slc24a4	UTSW	12	102264370	missense	probably damaging	1.00
R5886:Slc24a4	UTSW	12	102260415	missense	probably damaging	1.00
R5914:Slc24a4	UTSW	12	102234790	missense	probably damaging	1.00
R6257:Slc24a4	UTSW	12	102254510	missense	probably benign	0.00
R6305:Slc24a4	UTSW	12	102222101	missense	possibly damaging	0.84
R6313:Slc24a4	UTSW	12	102254510	missense	probably benign	0.00
R6734:Slc24a4	UTSW	12	102219000	missense	probably damaging	1.00
R7378:Slc24a4	UTSW	12	102239176	missense	probably benign	0.06
R7419:Slc24a4	UTSW	12	102227091	critical splice donor site	probably null
R7529:Slc24a4	UTSW	12	102264448	missense	probably benign	0.01
R7715:Slc24a4	UTSW	12	102218960	missense	possibly damaging	0.89
R7781:Slc24a4	UTSW	12	102234853	critical splice donor site	probably null
R8258:Slc24a4	UTSW	12	102254669	missense	probably damaging	1.00
R8259:Slc24a4	UTSW	12	102254669	missense	probably damaging	1.00
R8766:Slc24a4	UTSW	12	102230452	missense	probably benign	0.00
R8811:Slc24a4	UTSW	12	102213874	missense	probably damaging	1.00
R9229:Slc24a4	UTSW	12	102234724	missense	possibly damaging	0.79
R9339:Slc24a4	UTSW	12	102264379	missense	probably damaging	1.00
R9599:Slc24a4	UTSW	12	102131520	missense	probably benign	0.10
R9680:Slc24a4	UTSW	12	102227075	missense	possibly damaging	0.95
Z1176:Slc24a4	UTSW	12	102239238	missense	probably benign	0.01
Z1176:Slc24a4	UTSW	12	102228898	missense	probably damaging	1.00
Z1177:Slc24a4	UTSW	12	102260420	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATCAGCAACAGTTTATCTGC -3'
(R):5'- CCATGTGCTGGGTTAACTTACTTC -3'

Sequencing Primer
(F):5'- TACAGAAGTAAGCCACACTTTAAGG -3'
(R):5'- CATTAATTATGATCCTGCTGGCC -3'

Posted On

2015-04-02