Mutagenetix > Incidental Mutations

Incidental Mutation 'R5028:Slc24a4'

391528

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

042619-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5028 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102128733-102267091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102264370 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 505 (G505R)

Ref Sequence

ENSEMBL: ENSMUSP00000124513 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079020
AA Change: G507R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: G507R

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 damaging
Transcript: ENSMUST00000159329
AA Change: G505R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: G505R

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: G504R

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: G504R

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

0.8950

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (62/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,274,012	S777C	probably damaging	Het
Ano5	T	A	7: 51,537,710		probably null	Het
Arhgap17	T	A	7: 123,294,673	H508L	probably benign	Het
Arhgap29	T	A	3: 122,010,060		probably null	Het
Atp12a	T	C	14: 56,386,978	F961S	probably damaging	Het
B4galnt4	C	A	7: 141,068,062	P497Q	probably benign	Het
Camsap1	A	G	2: 25,944,556	S364P	probably damaging	Het
Ccdc150	C	A	1: 54,263,477	D85E	probably benign	Het
Cdc45	A	G	16: 18,795,180	Y291H	probably benign	Het
Comp	A	C	8: 70,376,640	N289T	probably damaging	Het
Cops3	T	A	11: 59,818,030		probably benign	Het
Crybg1	G	A	10: 43,998,212	H967Y	possibly damaging	Het
Csmd1	A	T	8: 15,989,090	F2423I	probably damaging	Het
Dact1	C	A	12: 71,318,573	C709*	probably null	Het
Dcxr	T	G	11: 120,726,447	Q90P	probably damaging	Het
Ell	A	G	8: 70,590,699	Y494C	probably damaging	Het
Emilin2	T	C	17: 71,274,732	E333G	possibly damaging	Het
Eml2	T	C	7: 19,179,447		probably null	Het
Fam186b	T	A	15: 99,280,801	M215L	probably damaging	Het
Gm17078	T	A	14: 51,611,242	R13W	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hspa14	A	G	2: 3,498,169	F196S	possibly damaging	Het
Ier5	A	G	1: 155,099,103	S110P	possibly damaging	Het
Kif1a	T	A	1: 93,054,327	I793F	possibly damaging	Het
Lrrc43	T	C	5: 123,508,113	I643T	probably damaging	Het
Map3k19	A	T	1: 127,823,232	L794Q	probably benign	Het
Meox2	A	T	12: 37,108,936	M36L	probably benign	Het
Mgat5b	T	A	11: 116,985,029	L693Q	probably damaging	Het
Mup4	T	A	4: 59,958,124	E148V	possibly damaging	Het
Napb	T	C	2: 148,703,137	N162S	possibly damaging	Het
Nlgn2	T	C	11: 69,827,737	D339G	probably benign	Het
Nucks1	C	T	1: 131,928,102	R90C	possibly damaging	Het
Olfr1431	T	A	19: 12,210,154	V196E	possibly damaging	Het
Olfr740	T	C	14: 50,453,739	V229A	probably damaging	Het
Plekhd1	A	T	12: 80,692,949	D24V	probably damaging	Het
Prpf4b	C	T	13: 34,899,975	P909L	probably damaging	Het
Rasgrp1	T	A	2: 117,302,004	K116*	probably null	Het
Ror1	A	G	4: 100,411,936	T324A	possibly damaging	Het
Slc8a1	A	G	17: 81,649,273	I112T	possibly damaging	Het
Smarcc2	A	G	10: 128,461,445	S69G	probably damaging	Het
Smc2	A	T	4: 52,458,447	E429D	probably damaging	Het
Sry	T	C	Y: 2,663,312	D116G	probably damaging	Het
Tcea3	T	A	4: 136,257,935	V154E	possibly damaging	Het
Tigd2	G	A	6: 59,211,220	W357*	probably null	Het
Tmem177	T	A	1: 119,910,689	T87S	probably benign	Het
Treh	A	T	9: 44,682,889	E144V	probably null	Het
Trpm6	T	A	19: 18,786,760	D243E	probably damaging	Het
Ttn	T	C	2: 76,778,050	D17843G	probably damaging	Het
Vars2	A	C	17: 35,659,473		probably null	Het
Vmn1r201	G	A	13: 22,475,360	W248*	probably null	Het
Yap1	T	C	9: 8,001,689	T99A	probably benign	Het
Zbtb8b	C	A	4: 129,433,000	C91F	probably damaging	Het
Zfp882	A	G	8: 71,914,654	T442A	possibly damaging	Het
Zxdc	G	T	6: 90,382,338	G651C	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
R3498:Slc24a4	UTSW	12	102234692	missense	probably benign
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
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
Z1176:Slc24a4	UTSW	12	102228898	missense	probably damaging	1.00
Z1176:Slc24a4	UTSW	12	102239238	missense	probably benign	0.01
Z1177:Slc24a4	UTSW	12	102260420	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGACATCCACGTACAGATCC -3'
(R):5'- AAAGGGTAGCACATCTCCCC -3'

Sequencing Primer
(F):5'- CCTTTAGGTCTCATGAAAAGAAGG -3'
(R):5'- TCCCCAGAACTCCAGGCTG -3'

Posted On

2016-06-06