Mutagenetix > Incidental Mutation

Incidental Mutation 'R5248:Slc24a3'

398620

Institutional Source

Beutler Lab

Gene Symbol

Slc24a3

Ensembl Gene

ENSMUSG00000063873

Gene Name

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

Synonyms

NCKX3

MMRRC Submission

042819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R5248 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

145009695-145484086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145446437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 282 (M282L)

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: M282L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: M282L

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: M332L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: M332L

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: ENSMUST00000131123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137908

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,437 (GRCm39)	E344D	probably benign	Het
Acoxl	G	A	2: 127,917,855 (GRCm39)		probably null	Het
Adora1	A	T	1: 134,131,224 (GRCm39)	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,818,501 (GRCm39)	D115E	possibly damaging	Het
Ank3	A	G	10: 69,822,938 (GRCm39)	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,706,539 (GRCm39)	H454R	probably damaging	Het
Ap4e1	C	T	2: 126,906,842 (GRCm39)	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,522,849 (GRCm39)	F328L	probably benign	Het
Bbip1	G	A	19: 53,919,786 (GRCm39)		probably benign	Het
Brsk1	G	A	7: 4,711,865 (GRCm39)	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,442,897 (GRCm39)	P716T	possibly damaging	Het
Clpx	T	C	9: 65,228,132 (GRCm39)	V380A	probably damaging	Het
Epha3	T	A	16: 63,418,620 (GRCm39)	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,491,089 (GRCm39)	P712T	probably damaging	Het
Itpr1	C	A	6: 108,519,023 (GRCm39)	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,548,735 (GRCm39)	E1080G	probably benign	Het
Macf1	G	A	4: 123,295,567 (GRCm39)	R3163*	probably null	Het
Map4k5	T	C	12: 69,888,755 (GRCm39)	D292G	probably benign	Het
Mau2	A	T	8: 70,481,373 (GRCm39)	C217S	probably benign	Het
Mtf1	T	C	4: 124,714,220 (GRCm39)	F210L	probably damaging	Het
Mtif2	G	A	11: 29,486,889 (GRCm39)	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,694,905 (GRCm39)		probably benign	Het
Mybpc3	C	A	2: 90,955,573 (GRCm39)		probably null	Het
Ncmap	T	C	4: 135,107,430 (GRCm39)		probably null	Het
Nek9	A	G	12: 85,355,751 (GRCm39)	F672S	probably damaging	Het
Nuak1	A	T	10: 84,245,542 (GRCm39)	I101N	probably damaging	Het
Or8s16	T	C	15: 98,211,311 (GRCm39)	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,286,515 (GRCm39)	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,618,939 (GRCm39)	Q243P	probably benign	Het
Pcf11	T	G	7: 92,310,699 (GRCm39)	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,604,769 (GRCm39)	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,900 (GRCm39)	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,542,050 (GRCm39)		probably null	Het
Rhobtb1	A	G	10: 69,084,615 (GRCm39)	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110 (GRCm39)	C110*	probably null	Het
Setx	T	A	2: 29,038,430 (GRCm39)	N1638K	probably benign	Het
Slc7a1	A	T	5: 148,270,798 (GRCm39)	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,077,407 (GRCm39)	D69V	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tas2r120	A	T	6: 132,634,110 (GRCm39)	N64I	probably damaging	Het
Tcf25	G	T	8: 124,100,678 (GRCm39)	A23S	probably damaging	Het
Tigd2	A	T	6: 59,188,138 (GRCm39)	K335I	probably damaging	Het
Tlr6	A	G	5: 65,112,647 (GRCm39)	S87P	probably benign	Het
Tmem135	T	A	7: 88,797,200 (GRCm39)	Y352F	probably damaging	Het
Tob2	T	C	15: 81,735,918 (GRCm39)	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Vmn1r179	T	C	7: 23,628,478 (GRCm39)	V223A	probably damaging	Het
Zfp946	T	C	17: 22,673,447 (GRCm39)	V67A	probably benign	Het
Zswim4	G	T	8: 84,946,561 (GRCm39)	N698K	probably benign	Het
Zzz3	A	G	3: 152,133,182 (GRCm39)	Q80R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATACAGATGGATGGATGGACC -3'
(R):5'- AAACTCTCAGGTGCTGCATC -3'

Sequencing Primer
(F):5'- TGGACCAATGGACAGATGGATGAAC -3'
(R):5'- AAATCAGGAAGTCTTGTCTCCC -3'

Posted On

2016-07-06