Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Slc8a3'

448966

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

042613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81244689-81379954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81246332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 900 (V900A)

Ref Sequence

ENSEMBL: ENSMUSP00000082334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208] [ENSMUST00000182366]

AlphaFold

S4R2P9

PDB Structure

The solution structure of Ca2+ binding domain 2B of the third isoform of the Na+/Ca2+ exchanger [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064594
AA Change: V906A

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: V906A

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: V900A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: V900A

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 benign
Transcript: ENSMUST00000182208
AA Change: V907A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: V907A

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

probably benign
Transcript: ENSMUST00000182366

SMART Domains

Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055

Domain	Start	End	E-Value	Type
PDB:2LT9\|A	1	52	2e-28	PDB
low complexity region	82	93	N/A	INTRINSIC

Meta Mutation Damage Score

0.3998

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm39)		probably null	Het
Abca15	T	C	7: 119,945,319 (GRCm39)	I465T	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,959,054 (GRCm39)		probably null	Het
Acan	T	C	7: 78,742,556 (GRCm39)		probably null	Het
Aebp2	G	A	6: 140,583,456 (GRCm39)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,658,422 (GRCm39)		probably null	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,509,261 (GRCm39)	N293K	probably benign	Het
BC028528	T	A	3: 95,796,135 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,999,327 (GRCm39)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 99,020,683 (GRCm39)	R369G	probably damaging	Het
C1d	T	A	11: 17,216,674 (GRCm39)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,717,644 (GRCm39)	A453V	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Celf2	C	T	2: 6,612,658 (GRCm39)		probably benign	Het
Chga	T	C	12: 102,529,096 (GRCm39)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Crim1	T	C	17: 78,587,558 (GRCm39)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,553 (GRCm39)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 50,028,194 (GRCm39)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,250,940 (GRCm39)	L355Q	probably damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,121,827 (GRCm39)	S316N	probably damaging	Het
Fchsd1	A	G	18: 38,097,863 (GRCm39)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,663,338 (GRCm39)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,809,773 (GRCm39)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,876,432 (GRCm39)		noncoding transcript	Het
Gm1818	G	C	12: 48,602,318 (GRCm39)		noncoding transcript	Het
Gm5420	A	T	10: 21,567,626 (GRCm39)		noncoding transcript	Het
Gm7104	A	T	12: 88,252,529 (GRCm39)		noncoding transcript	Het
Gp2	A	G	7: 119,048,337 (GRCm39)	I427T	probably damaging	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,695,214 (GRCm39)	S60R	probably benign	Het
Helz2	T	C	2: 180,882,362 (GRCm39)	R144G	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,709,647 (GRCm39)	A144S	probably damaging	Het
Irs2	A	C	8: 11,037,012 (GRCm39)	*1322G	probably null	Het
Keg1	A	G	19: 12,696,521 (GRCm39)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Klhl1	G	A	14: 96,374,142 (GRCm39)	P635S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,835,666 (GRCm39)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm39)	Y215*	probably null	Het
Mdga2	C	T	12: 66,517,534 (GRCm39)	C100Y	possibly damaging	Het
Mthfd1	T	A	12: 76,348,102 (GRCm39)	M582K	probably damaging	Het
Mthfd1	T	G	12: 76,341,148 (GRCm39)	V480G	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,745,418 (GRCm39)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,807,839 (GRCm39)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Or10h1	T	C	17: 33,418,751 (GRCm39)	F239S	probably damaging	Het
Or2m12	A	T	16: 19,104,809 (GRCm39)	V228D	probably damaging	Het
Or2r3	A	T	6: 42,448,221 (GRCm39)	V297E	possibly damaging	Het
Or4c111	A	G	2: 88,844,387 (GRCm39)	V7A	probably damaging	Het
Or4c122	C	T	2: 89,079,761 (GRCm39)	M92I	probably benign	Het
Or4k15	T	C	14: 50,364,469 (GRCm39)	V145A	possibly damaging	Het
Or52e2	G	A	7: 102,804,942 (GRCm39)	P4L	probably benign	Het
Or6c69c	T	C	10: 129,910,462 (GRCm39)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,583,223 (GRCm39)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Plk4	G	A	3: 40,756,512 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,688,126 (GRCm39)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 35,067,582 (GRCm39)		probably benign	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 138,835,494 (GRCm39)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,592 (GRCm39)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,381,688 (GRCm39)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm39)		probably benign	Het
Ros1	A	G	10: 52,000,171 (GRCm39)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,634,923 (GRCm39)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,617,971 (GRCm39)	W281R	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Spg21	A	G	9: 65,383,231 (GRCm39)	D139G	probably damaging	Het
Sun3	T	C	11: 8,988,314 (GRCm39)	T3A	probably damaging	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Timd5	T	A	11: 46,419,359 (GRCm39)	D58E	probably damaging	Het
Timm21	C	A	18: 84,967,539 (GRCm39)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,572,409 (GRCm39)	N386K	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trgv1	T	A	13: 19,524,401 (GRCm39)	S42T	probably benign	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ucp2	A	T	7: 100,147,579 (GRCm39)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 20,746,245 (GRCm39)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,831,649 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,676 (GRCm39)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,060,367 (GRCm39)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,222,417 (GRCm39)	L601P	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Wap	T	C	11: 6,587,339 (GRCm39)		probably benign	Het
Wdr11	A	G	7: 129,226,435 (GRCm39)	I744M	probably benign	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Zfp524	A	T	7: 5,021,416 (GRCm39)	I315F	probably benign	Het
Zfp62	T	A	11: 49,106,556 (GRCm39)	S216T	probably damaging	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	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
R3159: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
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'- ATGTGTCTGCTCCAGGGATGAG -3'
(R):5'- TGCCGTCAATGTCTTCCTGG -3'

Sequencing Primer
(F):5'- TCTGCTCCAGGGATGAGTAACC -3'
(R):5'- ATCTACTGGGCCATGCAGG -3'

Posted On

2016-12-16