Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Slc24a3'

397423

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

042749-MU

Accession Numbers

Essential gene?

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

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145009695-145484086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145482184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 614 (C614Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105634 (fasta)

Gene Model

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

AlphaFold

Q99PD7

Predicted Effect

probably benign
Transcript: ENSMUST00000081121
AA Change: C564Y

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: C564Y

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: C614Y

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: C614Y

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	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
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

Predicted Primers

PCR Primer
(F):5'- GATGACCACCACCTACATGTTC -3'
(R):5'- GATGTTGGATGTCTTCACACG -3'

Sequencing Primer
(F):5'- ACCACCACCTACATGTTCTAGCTTC -3'
(R):5'- ACGGATGCCTCGGCTGTTG -3'

Posted On

2016-07-06