Mutagenetix > Incidental Mutation

Incidental Mutation 'R3159:Slc8a3'

258073

Institutional Source

Beutler Lab

Gene Symbol

Slc8a3

Ensembl Gene

ENSMUSG00000079055

Gene Name

solute carrier family 8 (sodium/calcium exchanger), member 3

Synonyms

Ncx3

MMRRC Submission

040610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81244689-81379954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81361766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 351 (R351L)

Ref Sequence

ENSEMBL: ENSMUSP00000063258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]

AlphaFold

S4R2P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064594
AA Change: R351L

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

SMART Domains

Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: R351L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	79	250	1.3e-36	PFAM
Pfam:Na_Ca_ex_C	253	379	4.6e-57	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.04e-40	SMART
low complexity region	712	723	N/A	INTRINSIC
Pfam:Na_Ca_ex	754	919	2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085238
AA Change: R351L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: R351L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	79	250	1.3e-36	PFAM
Pfam:Na_Ca_ex_C	253	379	4.6e-57	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.54e-43	SMART
low complexity region	705	716	N/A	INTRINSIC
Pfam:Na_Ca_ex	747	912	1.9e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182208
AA Change: R351L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: R351L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	89	248	8.1e-38	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.04e-40	SMART
low complexity region	712	723	N/A	INTRINSIC
Pfam:Na_Ca_ex	764	917	9.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183102

Meta Mutation Damage Score

0.4516

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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 sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp1	T	C	3: 37,013,564 (GRCm39)	V1931A	probably benign	Het
Ccdc146	T	C	5: 21,604,790 (GRCm39)	E16G	unknown	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cdk15	T	C	1: 59,340,440 (GRCm39)	I313T	probably damaging	Het
Celsr3	T	C	9: 108,704,909 (GRCm39)	V464A	possibly damaging	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
Dscam	T	C	16: 96,479,710 (GRCm39)	T1146A	probably benign	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gm5145	A	G	17: 20,791,155 (GRCm39)	I178V	probably benign	Het
Gxylt1	A	G	15: 93,142,913 (GRCm39)	I384T	probably benign	Het
Hmgcr	C	T	13: 96,802,355 (GRCm39)	V110I	probably damaging	Het
Hsd17b2	A	C	8: 118,485,491 (GRCm39)	D318A	probably damaging	Het
Ighv8-6	A	G	12: 115,129,508 (GRCm39)	S83P	probably damaging	Het
Isg20	C	A	7: 78,564,201 (GRCm39)	A36E	possibly damaging	Het
Jade3	A	G	X: 20,345,783 (GRCm39)	K54E	probably damaging	Het
Mark1	A	T	1: 184,640,584 (GRCm39)	Y505N	probably damaging	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Myo1g	G	T	11: 6,464,527 (GRCm39)	T511K	possibly damaging	Het
Ociad1	A	T	5: 73,467,688 (GRCm39)	R155*	probably null	Het
Or5t7	A	G	2: 86,506,855 (GRCm39)	I274T	probably benign	Het
Pcdha2	C	T	18: 37,074,250 (GRCm39)	T627I	probably damaging	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Rbm48	A	T	5: 3,646,105 (GRCm39)	V33D	possibly damaging	Het
Rfx6	A	T	10: 51,602,816 (GRCm39)	R778W	probably damaging	Het
Sav1	A	T	12: 70,031,326 (GRCm39)	D65E	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Shank2	C	A	7: 143,635,611 (GRCm39)	N328K	probably damaging	Het
Slc9b1	G	A	3: 135,077,606 (GRCm39)	G100E	probably damaging	Het
Slit1	A	G	19: 41,592,812 (GRCm39)	Y1214H	probably benign	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Tgfb3	A	T	12: 86,105,760 (GRCm39)	W332R	probably damaging	Het
Tmem132a	C	T	19: 10,836,901 (GRCm39)	W680*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav4-4-dv10	A	T	14: 53,921,559 (GRCm39)	K86*	probably null	Het
Zfp667	T	C	7: 6,308,999 (GRCm39)	C556R	probably damaging	Het
Zranb3	A	G	1: 127,900,686 (GRCm39)	I713T	probably benign	Het

Other mutations in Slc8a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Slc8a3	APN	12	81,361,343 (GRCm39)	missense	probably benign
IGL01315:Slc8a3	APN	12	81,361,169 (GRCm39)	missense	probably damaging	0.97
IGL01365:Slc8a3	APN	12	81,362,150 (GRCm39)	missense	probably damaging	0.99
IGL01610:Slc8a3	APN	12	81,362,576 (GRCm39)	missense	probably damaging	1.00
IGL02227:Slc8a3	APN	12	81,362,457 (GRCm39)	missense	probably damaging	1.00
IGL02299:Slc8a3	APN	12	81,361,998 (GRCm39)	missense	probably damaging	0.98
IGL02548:Slc8a3	APN	12	81,250,930 (GRCm39)	splice site	probably benign
IGL02646:Slc8a3	APN	12	81,361,868 (GRCm39)	missense	probably damaging	1.00
IGL03135:Slc8a3	APN	12	81,249,023 (GRCm39)	missense	probably damaging	1.00
R0050:Slc8a3	UTSW	12	81,362,039 (GRCm39)	missense	probably damaging	1.00
R0627:Slc8a3	UTSW	12	81,361,616 (GRCm39)	missense	probably damaging	1.00
R0648:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R1342:Slc8a3	UTSW	12	81,362,790 (GRCm39)	missense	probably damaging	0.99
R1437:Slc8a3	UTSW	12	81,362,760 (GRCm39)	missense	probably damaging	0.99
R1470:Slc8a3	UTSW	12	81,246,484 (GRCm39)	missense	probably benign
R1470:Slc8a3	UTSW	12	81,246,484 (GRCm39)	missense	probably benign
R1557:Slc8a3	UTSW	12	81,362,331 (GRCm39)	missense	probably damaging	1.00
R1563:Slc8a3	UTSW	12	81,251,781 (GRCm39)	missense	possibly damaging	0.47
R1918:Slc8a3	UTSW	12	81,361,618 (GRCm39)	missense	probably damaging	0.99
R1930:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R1931:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R2232:Slc8a3	UTSW	12	81,361,994 (GRCm39)	missense	probably damaging	0.99
R2680:Slc8a3	UTSW	12	81,249,113 (GRCm39)	missense	probably damaging	0.99
R2941:Slc8a3	UTSW	12	81,361,953 (GRCm39)	missense	probably damaging	1.00
R3157:Slc8a3	UTSW	12	81,361,766 (GRCm39)	missense	probably damaging	1.00
R3751:Slc8a3	UTSW	12	81,250,912 (GRCm39)	missense	probably damaging	1.00
R3859:Slc8a3	UTSW	12	81,361,646 (GRCm39)	missense	probably damaging	0.99
R4240:Slc8a3	UTSW	12	81,361,950 (GRCm39)	missense	probably damaging	0.99
R4527:Slc8a3	UTSW	12	81,362,627 (GRCm39)	missense	probably damaging	1.00
R4547:Slc8a3	UTSW	12	81,361,625 (GRCm39)	missense	possibly damaging	0.76
R4951:Slc8a3	UTSW	12	81,362,760 (GRCm39)	missense	probably damaging	0.99
R4951:Slc8a3	UTSW	12	81,361,473 (GRCm39)	missense	probably benign	0.31
R5022:Slc8a3	UTSW	12	81,246,332 (GRCm39)	missense	probably damaging	0.96
R5049:Slc8a3	UTSW	12	81,260,906 (GRCm39)	missense	probably damaging	1.00
R5057:Slc8a3	UTSW	12	81,246,332 (GRCm39)	missense	probably damaging	0.96
R5104:Slc8a3	UTSW	12	81,260,908 (GRCm39)	missense	probably null	0.34
R5122:Slc8a3	UTSW	12	81,361,032 (GRCm39)	critical splice donor site	probably null
R5183:Slc8a3	UTSW	12	81,361,265 (GRCm39)	missense	possibly damaging	0.79
R5629:Slc8a3	UTSW	12	81,246,405 (GRCm39)	missense	probably damaging	1.00
R6062:Slc8a3	UTSW	12	81,361,124 (GRCm39)	missense	probably damaging	1.00
R6218:Slc8a3	UTSW	12	81,246,341 (GRCm39)	missense	probably benign
R6279:Slc8a3	UTSW	12	81,361,752 (GRCm39)	missense	probably damaging	0.99
R6300:Slc8a3	UTSW	12	81,361,752 (GRCm39)	missense	probably damaging	0.99
R6416:Slc8a3	UTSW	12	81,362,401 (GRCm39)	missense	probably damaging	1.00
R6790:Slc8a3	UTSW	12	81,361,206 (GRCm39)	missense	probably benign	0.00
R6999:Slc8a3	UTSW	12	81,361,529 (GRCm39)	missense	probably benign	0.06
R7195:Slc8a3	UTSW	12	81,361,047 (GRCm39)	missense	possibly damaging	0.95
R7268:Slc8a3	UTSW	12	81,361,827 (GRCm39)	missense	probably damaging	0.98
R7288:Slc8a3	UTSW	12	81,263,598 (GRCm39)	missense	possibly damaging	0.70
R7383:Slc8a3	UTSW	12	81,362,579 (GRCm39)	missense	probably damaging	1.00
R7392:Slc8a3	UTSW	12	81,361,577 (GRCm39)	missense	probably damaging	0.99
R7394:Slc8a3	UTSW	12	81,260,832 (GRCm39)	splice site	probably null
R7549:Slc8a3	UTSW	12	81,361,544 (GRCm39)	missense	probably benign	0.06
R7657:Slc8a3	UTSW	12	81,361,158 (GRCm39)	missense	probably damaging	1.00
R7699:Slc8a3	UTSW	12	81,361,247 (GRCm39)	missense	probably damaging	1.00
R7759:Slc8a3	UTSW	12	81,361,325 (GRCm39)	missense	probably benign
R7960:Slc8a3	UTSW	12	81,263,506 (GRCm39)	missense	probably benign	0.00
R7985:Slc8a3	UTSW	12	81,361,767 (GRCm39)	missense	probably damaging	1.00
R8059:Slc8a3	UTSW	12	81,249,032 (GRCm39)	missense	probably damaging	1.00
R8192:Slc8a3	UTSW	12	81,246,455 (GRCm39)	missense	probably damaging	1.00
R8397:Slc8a3	UTSW	12	81,246,542 (GRCm39)	missense	probably benign	0.45
R8413:Slc8a3	UTSW	12	81,361,452 (GRCm39)	missense	probably damaging	0.97
R8681:Slc8a3	UTSW	12	81,361,914 (GRCm39)	missense	probably benign
R9060:Slc8a3	UTSW	12	81,260,852 (GRCm39)	missense	probably benign	0.45
R9061:Slc8a3	UTSW	12	81,263,540 (GRCm39)	missense	probably damaging	0.99
R9267:Slc8a3	UTSW	12	81,361,208 (GRCm39)	missense	possibly damaging	0.77
R9416:Slc8a3	UTSW	12	81,361,838 (GRCm39)	missense	probably benign	0.06
R9519:Slc8a3	UTSW	12	81,362,326 (GRCm39)	missense	probably benign	0.30
R9531:Slc8a3	UTSW	12	81,361,997 (GRCm39)	missense	probably damaging	1.00
X0026:Slc8a3	UTSW	12	81,362,061 (GRCm39)	missense	probably benign	0.22
X0028:Slc8a3	UTSW	12	81,361,717 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc8a3	UTSW	12	81,362,650 (GRCm39)	missense	probably benign	0.13
Z1177:Slc8a3	UTSW	12	81,361,474 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GGCACTGATAAGAACATGGGTC -3'
(R):5'- TTATCATTGAGACAGAGGGTGAC -3'

Sequencing Primer
(F):5'- TCAAAGAAGACCTTAGAGGCAAAGTC -3'
(R):5'- CCCTAAGGGCATTGAGATGG -3'

Posted On

2015-01-23