Mutagenetix > Incidental Mutations

Incidental Mutation 'R5049:Slc8a3'

394542

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

042639-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81197915-81333180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81214132 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 608 (Y608H)

Ref Sequence

ENSEMBL: ENSMUSP00000063258 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000064594
AA Change: Y608H

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

SMART Domains

Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: Y608H

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: Y608H

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

SMART Domains

Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: Y608H

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

SMART Domains

Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183102

Meta Mutation Damage Score

0.3237

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,209	D183E	probably damaging	Het
4932438A13Rik	T	C	3: 37,041,390	M1016T	probably damaging	Het
4932438A13Rik	T	A	3: 37,040,506		probably benign	Het
9330182L06Rik	A	G	5: 9,428,488	T451A	probably damaging	Het
Aamp	A	G	1: 74,282,539	S76P	probably damaging	Het
Acot8	A	G	2: 164,799,690		probably benign	Het
Angptl7	A	G	4: 148,498,011	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,358,687	T283A	probably benign	Het
Brd3	G	T	2: 27,450,577		probably benign	Het
C130026L21Rik	T	A	5: 111,581,836		noncoding transcript	Het
Cbr4	T	G	8: 61,495,204		probably null	Het
Ccl19	A	G	4: 42,756,268		probably null	Het
Ccl2	G	T	11: 82,036,507	C34F	probably damaging	Het
Dnah12	A	T	14: 26,735,697	T873S	probably benign	Het
Dnah2	T	C	11: 69,448,166	N3118S	probably damaging	Het
Epb41l1	C	A	2: 156,524,939	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,076,032	M567K	probably benign	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam208b	A	T	13: 3,574,000	H1983Q	probably benign	Het
Foxf2	T	C	13: 31,627,175	S366P	probably benign	Het
Gamt	T	A	10: 80,258,954	T186S	probably benign	Het
Gcn1l1	T	A	5: 115,606,671	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957	Y194F	probably benign	Het
Golga1	A	T	2: 39,047,735	M115K	probably damaging	Het
Herc3	A	G	6: 58,894,539		probably null	Het
Hes2	C	A	4: 152,159,874	L39I	possibly damaging	Het
Hopx	C	A	5: 77,095,052		probably benign	Het
Idi1	C	T	13: 8,888,042	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,594,081	C325*	probably null	Het
Ighv7-3	T	C	12: 114,153,333	I70V	probably benign	Het
Kcnq3	T	C	15: 66,285,897	T110A	probably benign	Het
Kif5a	T	C	10: 127,239,839	D451G	possibly damaging	Het
Lama3	A	G	18: 12,582,611	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,650,937	D371E	probably damaging	Het
Lyst	T	A	13: 13,636,064	V773E	probably damaging	Het
Map4	T	A	9: 110,079,814	L23*	probably null	Het
Mapkbp1	G	T	2: 120,015,501		probably benign	Het
Mrpl30	A	T	1: 37,897,710	D52V	possibly damaging	Het
Olfr1122	A	T	2: 87,388,658	T318S	probably benign	Het
Olfr71	A	T	4: 43,706,259	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,161,161	H286Q	probably benign	Het
Parp4	A	G	14: 56,635,731	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,107,115	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,457,616	S22P	probably benign	Het
Prss32	A	T	17: 23,859,247	E302D	possibly damaging	Het
Prss45	A	G	9: 110,840,470	K205E	probably damaging	Het
Puf60	T	A	15: 76,070,474	I500F	probably damaging	Het
Ryr3	A	T	2: 112,640,171	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,338,124		probably benign	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Socs7	G	T	11: 97,378,643	R429L	probably benign	Het
Sorcs3	C	A	19: 48,759,951	N786K	possibly damaging	Het
Sp4	A	T	12: 118,254,472	M680K	probably benign	Het
Tas2r131	T	C	6: 132,957,577	T90A	probably damaging	Het
Tbx21	T	C	11: 97,114,710	H143R	probably benign	Het
Tg	T	A	15: 66,827,382	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057	S355P	probably benign	Het
Tmem86b	G	A	7: 4,628,466	P191S	possibly damaging	Het
Tnc	A	G	4: 64,017,986	C238R	probably damaging	Het
Tnn	T	A	1: 160,140,738	E361D	probably benign	Het
Tpp2	T	C	1: 44,001,473	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,717,079	N22S	probably damaging	Het
Trim75	T	C	8: 64,982,439		probably null	Het
Trrap	T	A	5: 144,826,717	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773	A561E	probably benign	Het
Uqcc1	A	G	2: 155,910,421	V86A	probably damaging	Het
Vmn1r184	A	G	7: 26,267,368	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,611,495	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,398,598		probably null	Het
Vmn2r87	T	C	10: 130,472,429	T647A	probably damaging	Het
Vps13d	A	T	4: 145,086,766	H198Q	probably damaging	Het
Wdfy4	T	C	14: 33,152,670	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,517,134	M3240V	probably benign	Het
Zfp101	T	C	17: 33,381,898	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,535,514	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,726,575		noncoding transcript	Het

Other mutations in Slc8a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Slc8a3	APN	12	81314569	missense	probably benign
IGL01315:Slc8a3	APN	12	81314395	missense	probably damaging	0.97
IGL01365:Slc8a3	APN	12	81315376	missense	probably damaging	0.99
IGL01610:Slc8a3	APN	12	81315802	missense	probably damaging	1.00
IGL02227:Slc8a3	APN	12	81315683	missense	probably damaging	1.00
IGL02299:Slc8a3	APN	12	81315224	missense	probably damaging	0.98
IGL02548:Slc8a3	APN	12	81204156	splice site	probably benign
IGL02646:Slc8a3	APN	12	81315094	missense	probably damaging	1.00
IGL03135:Slc8a3	APN	12	81202249	missense	probably damaging	1.00
R0050:Slc8a3	UTSW	12	81315265	missense	probably damaging	1.00
R0627:Slc8a3	UTSW	12	81314842	missense	probably damaging	1.00
R0648:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R1342:Slc8a3	UTSW	12	81316016	missense	probably damaging	0.99
R1437:Slc8a3	UTSW	12	81315986	missense	probably damaging	0.99
R1470:Slc8a3	UTSW	12	81199710	missense	probably benign
R1470:Slc8a3	UTSW	12	81199710	missense	probably benign
R1557:Slc8a3	UTSW	12	81315557	missense	probably damaging	1.00
R1563:Slc8a3	UTSW	12	81205007	missense	possibly damaging	0.47
R1918:Slc8a3	UTSW	12	81314844	missense	probably damaging	0.99
R1930:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R1931:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R2232:Slc8a3	UTSW	12	81315220	missense	probably damaging	0.99
R2680:Slc8a3	UTSW	12	81202339	missense	probably damaging	0.99
R2941:Slc8a3	UTSW	12	81315179	missense	probably damaging	1.00
R3157:Slc8a3	UTSW	12	81314992	missense	probably damaging	1.00
R3159:Slc8a3	UTSW	12	81314992	missense	probably damaging	1.00
R3751:Slc8a3	UTSW	12	81204138	missense	probably damaging	1.00
R3859:Slc8a3	UTSW	12	81314872	missense	probably damaging	0.99
R4240:Slc8a3	UTSW	12	81315176	missense	probably damaging	0.99
R4527:Slc8a3	UTSW	12	81315853	missense	probably damaging	1.00
R4547:Slc8a3	UTSW	12	81314851	missense	possibly damaging	0.76
R4951:Slc8a3	UTSW	12	81315986	missense	probably damaging	0.99
R4951:Slc8a3	UTSW	12	81314699	missense	probably benign	0.31
R5022:Slc8a3	UTSW	12	81199558	missense	probably damaging	0.96
R5057:Slc8a3	UTSW	12	81199558	missense	probably damaging	0.96
R5104:Slc8a3	UTSW	12	81214134	missense	probably null	0.34
R5122:Slc8a3	UTSW	12	81314258	critical splice donor site	probably null
R5183:Slc8a3	UTSW	12	81314491	missense	possibly damaging	0.79
R5629:Slc8a3	UTSW	12	81199631	missense	probably damaging	1.00
R6062:Slc8a3	UTSW	12	81314350	missense	probably damaging	1.00
R6218:Slc8a3	UTSW	12	81199567	missense	probably benign
R6279:Slc8a3	UTSW	12	81314978	missense	probably damaging	0.99
R6300:Slc8a3	UTSW	12	81314978	missense	probably damaging	0.99
R6416:Slc8a3	UTSW	12	81315627	missense	probably damaging	1.00
R6790:Slc8a3	UTSW	12	81314432	missense	probably benign	0.00
R6999:Slc8a3	UTSW	12	81314755	missense	probably benign	0.06
R7195:Slc8a3	UTSW	12	81314273	missense	possibly damaging	0.95
R7268:Slc8a3	UTSW	12	81315053	missense	probably damaging	0.98
R7288:Slc8a3	UTSW	12	81216824	missense	possibly damaging	0.70
R7383:Slc8a3	UTSW	12	81315805	missense	probably damaging	1.00
R7392:Slc8a3	UTSW	12	81314803	missense	probably damaging	0.99
R7394:Slc8a3	UTSW	12	81214058	splice site	probably null
R7549:Slc8a3	UTSW	12	81314770	missense	probably benign	0.06
R7657:Slc8a3	UTSW	12	81314384	missense	probably damaging	1.00
R7759:Slc8a3	UTSW	12	81314551	missense	probably benign
R8059:Slc8a3	UTSW	12	81202258	missense	probably damaging	1.00
X0026:Slc8a3	UTSW	12	81315287	missense	probably benign	0.22
X0028:Slc8a3	UTSW	12	81314943	missense	probably damaging	1.00
Z1177:Slc8a3	UTSW	12	81314700	missense	possibly damaging	0.92
Z1177:Slc8a3	UTSW	12	81315876	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TTTCTGTCAACAGGAGATGGAGATG -3'
(R):5'- CCTATCTAAGGCCACCATGG -3'

Sequencing Primer
(F):5'- GAGGGCAAAAATAGATCACTTTTTC -3'
(R):5'- GCAGGGCAGGGCTTCATATG -3'

Posted On

2016-06-15