Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Slc24a3'

182586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc24a3

Ensembl Gene

ENSMUSG00000063873

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

Synonyms

NCKX3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

145009695-145484086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145086947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 19 (V19A)

Ref Sequence

ENSEMBL: ENSMUSP00000079897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]

AlphaFold

Q99PD7

Predicted Effect

probably benign
Transcript: ENSMUST00000081121
AA Change: V19A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: V19A

Domain	Start	End	E-Value	Type
Pfam:Na_Ca_ex	72	204	8.6e-33	PFAM
coiled coil region	353	382	N/A	INTRINSIC
Pfam:Na_Ca_ex	437	577	2.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110007
AA Change: V69A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: V69A

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Na_Ca_ex	112	255	2.6e-32	PFAM
coiled coil region	403	432	N/A	INTRINSIC
Pfam:Na_Ca_ex	477	629	6.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153249

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766 (GRCm39)	L456R	probably damaging	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Galnt3	T	C	2: 65,914,606 (GRCm39)	M604V	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Maneal	T	C	4: 124,752,948 (GRCm39)	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Ntsr2	T	A	12: 16,706,775 (GRCm39)	W268R	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Rnf215	A	T	11: 4,086,615 (GRCm39)	H164L	probably damaging	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Slc24a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Slc24a3	APN	2	145,458,634 (GRCm39)	critical splice donor site	probably null
IGL01327:Slc24a3	APN	2	145,444,478 (GRCm39)	missense	probably benign
IGL01413:Slc24a3	APN	2	145,482,169 (GRCm39)	missense	probably damaging	1.00
IGL01418:Slc24a3	APN	2	145,482,169 (GRCm39)	missense	probably damaging	1.00
IGL01468:Slc24a3	APN	2	145,455,500 (GRCm39)	missense	probably benign	0.16
IGL01629:Slc24a3	APN	2	145,482,130 (GRCm39)	splice site	probably benign
IGL02021:Slc24a3	APN	2	145,360,836 (GRCm39)	missense	probably damaging	1.00
IGL02378:Slc24a3	APN	2	145,360,322 (GRCm39)	missense	possibly damaging	0.78
R0242:Slc24a3	UTSW	2	145,448,584 (GRCm39)	missense	probably benign	0.02
R0242:Slc24a3	UTSW	2	145,448,584 (GRCm39)	missense	probably benign	0.02
R0685:Slc24a3	UTSW	2	145,448,715 (GRCm39)	missense	probably benign	0.00
R0827:Slc24a3	UTSW	2	145,360,412 (GRCm39)	splice site	probably benign
R1669:Slc24a3	UTSW	2	145,455,512 (GRCm39)	missense	probably damaging	1.00
R2698:Slc24a3	UTSW	2	145,455,487 (GRCm39)	missense	probably benign	0.01
R3796:Slc24a3	UTSW	2	145,458,601 (GRCm39)	missense	probably damaging	1.00
R4073:Slc24a3	UTSW	2	145,455,636 (GRCm39)	intron	probably benign
R4386:Slc24a3	UTSW	2	145,448,746 (GRCm39)	missense	probably benign	0.00
R5125:Slc24a3	UTSW	2	145,360,767 (GRCm39)	missense	possibly damaging	0.95
R5169:Slc24a3	UTSW	2	145,482,184 (GRCm39)	missense	probably benign	0.18
R5248:Slc24a3	UTSW	2	145,446,437 (GRCm39)	missense	probably benign	0.40
R5394:Slc24a3	UTSW	2	145,455,494 (GRCm39)	missense	probably benign	0.42
R5549:Slc24a3	UTSW	2	145,448,784 (GRCm39)	missense	probably damaging	1.00
R6476:Slc24a3	UTSW	2	145,448,750 (GRCm39)	missense	probably benign
R6777:Slc24a3	UTSW	2	145,482,202 (GRCm39)	missense	probably damaging	1.00
R6814:Slc24a3	UTSW	2	145,458,630 (GRCm39)	nonsense	probably null
R7163:Slc24a3	UTSW	2	145,086,911 (GRCm39)	missense	probably benign
R7446:Slc24a3	UTSW	2	145,422,902 (GRCm39)	missense	probably damaging	1.00
R7525:Slc24a3	UTSW	2	145,455,450 (GRCm39)	missense	probably benign	0.00
R9573:Slc24a3	UTSW	2	145,455,548 (GRCm39)	missense	probably damaging	0.99
R9732:Slc24a3	UTSW	2	145,458,591 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07