Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Slc24a3'

278440

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 #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

145009695-145484086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145482169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 609 (D609G)

Ref Sequence

ENSEMBL: ENSMUSP00000105634 (fasta)

Gene Model

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

AlphaFold

Q99PD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000081121
AA Change: D559G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: D559G

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 damaging
Transcript: ENSMUST00000110007
AA Change: D609G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: D609G

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	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
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
IGL01973:Slc24a3	APN	2	145,086,947 (GRCm39)	missense	probably benign	0.01
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

2015-04-16