Mutagenetix > Incidental Mutation

Incidental Mutation 'R8987:Slc8a1'

684172

Institutional Source

Beutler Lab

Gene Symbol

Slc8a1

Ensembl Gene

ENSMUSG00000054640

Gene Name

solute carrier family 8 (sodium/calcium exchanger), member 1

Synonyms

Ncx1, D930008O12Rik

MMRRC Submission

068819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81680534-82045806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81955282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 585 (F585L)

Ref Sequence

ENSEMBL: ENSMUSP00000132809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086538] [ENSMUST00000163123] [ENSMUST00000163680]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086538
AA Change: F585L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: F585L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	77	248	3.8e-38	PFAM
Pfam:Na_Ca_ex_C	251	386	2e-53	PFAM
Calx_beta	393	493	1.28e-49	SMART
Calx_beta	524	624	8.25e-44	SMART
low complexity region	754	765	N/A	INTRINSIC
Pfam:Na_Ca_ex	796	961	2.4e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163123
AA Change: F585L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: F585L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	87	246	4.6e-38	PFAM
coiled coil region	313	332	N/A	INTRINSIC
Calx_beta	393	493	1.28e-49	SMART
Calx_beta	524	624	8.25e-44	SMART
low complexity region	742	753	N/A	INTRINSIC
Pfam:Na_Ca_ex	794	947	1.2e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163680
AA Change: F585L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: F585L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	77	248	3.8e-38	PFAM
Pfam:Na_Ca_ex_C	251	386	2e-53	PFAM
Calx_beta	393	493	1.28e-49	SMART
Calx_beta	524	624	8.25e-44	SMART
low complexity region	754	765	N/A	INTRINSIC
Pfam:Na_Ca_ex	796	961	2.4e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

96% (123/128)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	C	5: 113,830,813 (GRCm39)	K59R	unknown	Het
Abcb4	T	C	5: 8,977,931 (GRCm39)	V503A	probably benign	Het
Actn4	A	G	7: 28,596,398 (GRCm39)	V699A	probably benign	Het
Adam26a	T	A	8: 44,022,358 (GRCm39)	K377N	probably benign	Het
Adam6b	C	T	12: 113,454,748 (GRCm39)	R522C	probably damaging	Het
Ahi1	A	G	10: 20,839,683 (GRCm39)	Y198C	probably damaging	Het
Ankrd44	G	A	1: 54,700,349 (GRCm39)	Q720*	probably null	Het
Arhgap26	A	T	18: 39,490,652 (GRCm39)	M297L		Het
Arhgef11	C	T	3: 87,637,788 (GRCm39)	T1093I	probably damaging	Het
Arhgef25	C	A	10: 127,018,735 (GRCm39)	R609S	probably damaging	Het
Arhgef28	G	T	13: 98,190,472 (GRCm39)	H162Q	possibly damaging	Het
Atg4b	A	G	1: 93,706,081 (GRCm39)	E178G	possibly damaging	Het
Atxn1l	T	C	8: 110,459,117 (GRCm39)	T382A	probably benign	Het
Bdp1	A	G	13: 100,204,021 (GRCm39)	V667A	probably benign	Het
C6	T	C	15: 4,844,344 (GRCm39)	I922T		Het
Ccdc191	A	G	16: 43,751,710 (GRCm39)	T347A	probably benign	Het
Cd22	G	T	7: 30,577,172 (GRCm39)	P45H	probably damaging	Het
Cdc45	A	G	16: 18,630,300 (GRCm39)	F6L	probably benign	Het
Cenpj	T	C	14: 56,764,383 (GRCm39)	E1343G	possibly damaging	Het
Chtf8	T	A	8: 107,612,735 (GRCm39)	N68I	probably benign	Het
Cldn8	C	T	16: 88,359,733 (GRCm39)	C64Y	probably damaging	Het
Cntnap2	G	T	6: 46,460,983 (GRCm39)	S673I	probably benign	Het
Cyp3a13	C	T	5: 137,909,849 (GRCm39)	R158K	probably benign	Het
Cyp3a57	A	T	5: 145,311,039 (GRCm39)		probably null	Het
Cyp3a57	G	T	5: 145,311,040 (GRCm39)		probably null	Het
D630045J12Rik	A	G	6: 38,173,898 (GRCm39)	I90T	probably benign	Het
Dapk2	A	G	9: 66,157,602 (GRCm39)		probably benign	Het
Dmxl1	A	G	18: 50,026,919 (GRCm39)	D2009G		Het
Dnah1	C	T	14: 31,033,704 (GRCm39)	V290I	possibly damaging	Het
Doc2g	A	T	19: 4,054,511 (GRCm39)		probably null	Het
Dpysl2	C	T	14: 67,045,402 (GRCm39)	G457D	probably damaging	Het
Drc1	A	T	5: 30,521,439 (GRCm39)	Y700F	probably damaging	Het
Ehbp1	A	G	11: 22,003,531 (GRCm39)	Y1073H	probably damaging	Het
Epm2aip1	T	A	9: 111,101,036 (GRCm39)	M3K	probably benign	Het
Erich3	G	A	3: 154,415,340 (GRCm39)	R152Q		Het
Exoc5	C	T	14: 49,252,986 (GRCm39)	R609H	probably damaging	Het
Fam135b	T	A	15: 71,334,189 (GRCm39)	T1002S	probably benign	Het
Fanca	C	T	8: 124,024,538 (GRCm39)	E528K	probably damaging	Het
Fsd2	C	A	7: 81,209,766 (GRCm39)	M25I	probably benign	Het
Fyco1	T	C	9: 123,658,139 (GRCm39)	E679G	possibly damaging	Het
Gas6	T	A	8: 13,520,294 (GRCm39)	M465L	probably damaging	Het
Gfra3	A	G	18: 34,823,879 (GRCm39)	V365A	probably benign	Het
Gm10269	T	G	18: 20,815,981 (GRCm39)	K14Q	possibly damaging	Het
Gm21798	G	A	15: 64,689,756 (GRCm39)		probably null	Het
Gm5916	T	A	9: 36,032,286 (GRCm39)	R49S	probably benign	Het
Gpam	G	T	19: 55,072,227 (GRCm39)	T266N	possibly damaging	Het
Gtse1	A	G	15: 85,753,109 (GRCm39)	E408G	probably benign	Het
Hmgcll1	A	T	9: 76,037,592 (GRCm39)		probably null	Het
Hspa12a	T	A	19: 58,787,903 (GRCm39)	R640*	probably null	Het
Hspa9	T	C	18: 35,080,982 (GRCm39)	D233G	probably damaging	Het
Htt	T	G	5: 34,977,368 (GRCm39)	I751M	probably benign	Het
Hydin	T	A	8: 111,239,766 (GRCm39)	Y2015*	probably null	Het
Ift43	A	C	12: 86,208,275 (GRCm39)	M138L	probably benign	Het
Il11	C	T	7: 4,779,029 (GRCm39)	V93M	probably damaging	Het
Iws1	T	A	18: 32,226,645 (GRCm39)	F741L	possibly damaging	Het
Jmy	A	T	13: 93,589,397 (GRCm39)	I620N	probably damaging	Het
Kap	T	A	6: 133,830,689 (GRCm39)		probably benign	Het
Kcnk15	A	G	2: 163,700,217 (GRCm39)	N152S	probably damaging	Het
Kif16b	T	C	2: 142,743,278 (GRCm39)	K5R	probably benign	Het
Kif16b	C	T	2: 142,691,783 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,992,400 (GRCm39)	R555H	probably damaging	Het
Krt36	A	G	11: 99,994,372 (GRCm39)	V235A	possibly damaging	Het
Lca5	A	G	9: 83,283,796 (GRCm39)	S246P	probably damaging	Het
Maml1	T	C	11: 50,157,575 (GRCm39)	D200G	probably damaging	Het
Maml3	T	C	3: 51,597,868 (GRCm39)	R939G	probably damaging	Het
Mgam	A	T	6: 40,706,570 (GRCm39)	T74S	probably damaging	Het
Mib2	G	T	4: 155,745,351 (GRCm39)	D125E	probably benign	Het
Muc16	A	T	9: 18,462,981 (GRCm39)	L7407*	probably null	Het
Mycbp2	A	T	14: 103,446,232 (GRCm39)	N1865K	probably damaging	Het
Naip1	A	G	13: 100,563,434 (GRCm39)	L577S	probably damaging	Het
Nell1	A	T	7: 50,498,399 (GRCm39)	D652V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nxph1	G	A	6: 8,950,312 (GRCm39)		probably benign	Het
Oas1h	T	A	5: 121,005,152 (GRCm39)	I200N	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,867 (GRCm39)	L122P	probably damaging	Het
Or2h2b-ps1	A	T	17: 37,480,990 (GRCm39)	I81N	probably damaging	Het
Or8g53	A	T	9: 39,683,688 (GRCm39)	M136K	probably benign	Het
Otog	A	T	7: 45,936,878 (GRCm39)	Q1529L	probably benign	Het
Otop1	A	T	5: 38,457,071 (GRCm39)	I277F	probably damaging	Het
Pax5	G	A	4: 44,645,661 (GRCm39)	Q223*	probably null	Het
Pcdha9	T	A	18: 37,132,998 (GRCm39)	I689N	probably benign	Het
Pcsk6	A	T	7: 65,576,975 (GRCm39)	R138*	probably null	Het
Pitpnm3	A	T	11: 72,003,132 (GRCm39)	N59K	probably damaging	Het
Pla2g4d	G	A	2: 120,100,442 (GRCm39)	T630I	probably damaging	Het
Plekhg5	T	A	4: 152,188,372 (GRCm39)		probably benign	Het
Plxnb1	T	A	9: 108,937,178 (GRCm39)		probably benign	Het
Prss28	T	A	17: 25,528,395 (GRCm39)	L6H	probably damaging	Het
Pyroxd1	T	A	6: 142,302,251 (GRCm39)	V228E		Het
Ripk2	G	A	4: 16,123,699 (GRCm39)	T492M	possibly damaging	Het
Satb1	A	T	17: 52,112,381 (GRCm39)	C78S	probably damaging	Het
Scaf11	A	T	15: 96,316,557 (GRCm39)	C1002*	probably null	Het
Scarf2	A	C	16: 17,622,768 (GRCm39)	Q499P	probably damaging	Het
Selenbp1	T	A	3: 94,847,425 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,806,647 (GRCm39)	N921S	probably benign	Het
Slc25a1	A	T	16: 17,743,744 (GRCm39)	V290E	probably damaging	Het
Slc28a3	C	T	13: 58,719,254 (GRCm39)		probably benign	Het
Slc35b4	A	T	6: 34,137,442 (GRCm39)	D213E	probably benign	Het
Slc40a1	A	C	1: 45,950,495 (GRCm39)	M319R	probably damaging	Het
Slco3a1	T	A	7: 73,970,324 (GRCm39)	N428Y	possibly damaging	Het
Slfn2	G	A	11: 82,960,363 (GRCm39)	C114Y	probably damaging	Het
Smg5	T	C	3: 88,267,714 (GRCm39)		probably null	Het
Spata13	T	A	14: 60,993,896 (GRCm39)	L1116Q	possibly damaging	Het
Spmap1	C	T	11: 97,666,510 (GRCm39)	V59M	probably damaging	Het
Syne1	A	G	10: 5,177,579 (GRCm39)	V4965A	possibly damaging	Het
Tacc3	G	T	5: 33,826,169 (GRCm39)	V472F	possibly damaging	Het
Tacr3	T	A	3: 134,560,573 (GRCm39)	Y171N	probably damaging	Het
Tacr3	T	G	3: 134,560,718 (GRCm39)	L219R	probably damaging	Het
Tbx3	C	A	5: 119,818,886 (GRCm39)	A507E	possibly damaging	Het
Telo2	A	T	17: 25,324,402 (GRCm39)	D494E	probably damaging	Het
Tfip11	T	C	5: 112,484,921 (GRCm39)	F744S	possibly damaging	Het
Tgm3	A	C	2: 129,880,403 (GRCm39)	N403T	probably benign	Het
Thoc3	A	T	13: 54,615,708 (GRCm39)	S119T	possibly damaging	Het
Tmem176b	A	T	6: 48,812,530 (GRCm39)	I145N	probably damaging	Het
Trio	T	A	15: 27,732,773 (GRCm39)	Q3036L	probably benign	Het
Trpc4	T	C	3: 54,102,132 (GRCm39)	V10A	probably benign	Het
Trpm3	A	G	19: 22,896,124 (GRCm39)	Y987C	probably damaging	Het
Tspoap1	A	G	11: 87,654,394 (GRCm39)	K225E	probably damaging	Het
Txnrd3	A	T	6: 89,638,477 (GRCm39)	Q222L	possibly damaging	Het
Usp34	A	T	11: 23,414,267 (GRCm39)	M2756L		Het
Vmn2r81	C	T	10: 79,129,704 (GRCm39)	T865I	probably damaging	Het
Vnn1	A	G	10: 23,776,714 (GRCm39)	Y355C	probably damaging	Het
Wipf2	A	T	11: 98,783,092 (GRCm39)	S173C	probably damaging	Het
Wnt1	A	T	15: 98,689,624 (GRCm39)	H137L	probably damaging	Het
Xylt2	A	T	11: 94,561,278 (GRCm39)	C162S	probably damaging	Het
Zfp426	T	C	9: 20,387,744 (GRCm39)	E33G	probably damaging	Het
Zfp811	A	C	17: 33,017,801 (GRCm39)	C80G	possibly damaging	Het
Zfp931	T	C	2: 177,709,591 (GRCm39)	H265R	probably damaging	Het
Zfp931	G	A	2: 177,709,592 (GRCm39)	H265Y	probably damaging	Het

Other mutations in Slc8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Slc8a1	APN	17	81,956,600 (GRCm39)	missense	probably damaging	1.00
IGL00572:Slc8a1	APN	17	81,696,155 (GRCm39)	missense	probably damaging	1.00
IGL00777:Slc8a1	APN	17	81,956,009 (GRCm39)	missense	probably damaging	1.00
IGL00857:Slc8a1	APN	17	81,955,308 (GRCm39)	missense	probably benign	0.03
IGL01068:Slc8a1	APN	17	81,696,371 (GRCm39)	missense	probably benign	0.09
IGL01089:Slc8a1	APN	17	81,696,310 (GRCm39)	missense	probably damaging	1.00
IGL01089:Slc8a1	APN	17	81,955,710 (GRCm39)	missense	probably damaging	1.00
IGL01510:Slc8a1	APN	17	81,955,794 (GRCm39)	missense	probably damaging	1.00
IGL01677:Slc8a1	APN	17	81,956,036 (GRCm39)	missense	probably damaging	1.00
IGL01862:Slc8a1	APN	17	81,749,630 (GRCm39)	critical splice donor site	probably null
IGL02003:Slc8a1	APN	17	81,735,625 (GRCm39)	missense	possibly damaging	0.80
IGL02500:Slc8a1	APN	17	81,696,142 (GRCm39)	missense	probably damaging	1.00
IGL02556:Slc8a1	APN	17	81,956,173 (GRCm39)	missense	probably benign	0.24
IGL02800:Slc8a1	APN	17	81,715,752 (GRCm39)	missense	probably benign	0.01
IGL03308:Slc8a1	APN	17	81,749,624 (GRCm39)	unclassified	probably benign
IGL03391:Slc8a1	APN	17	81,740,067 (GRCm39)	splice site	probably benign
cardinal	UTSW	17	81,955,836 (GRCm39)	missense	probably damaging	0.99
encyclical	UTSW	17	81,956,883 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Slc8a1	UTSW	17	81,956,269 (GRCm39)	nonsense	probably null
R0067:Slc8a1	UTSW	17	81,745,188 (GRCm39)	missense	probably benign	0.00
R0067:Slc8a1	UTSW	17	81,745,188 (GRCm39)	missense	probably benign	0.00
R0485:Slc8a1	UTSW	17	81,955,422 (GRCm39)	missense	probably damaging	0.99
R0667:Slc8a1	UTSW	17	81,956,310 (GRCm39)	missense	probably damaging	1.00
R0845:Slc8a1	UTSW	17	81,745,177 (GRCm39)	missense	probably benign	0.05
R1073:Slc8a1	UTSW	17	81,955,836 (GRCm39)	missense	probably damaging	0.99
R1417:Slc8a1	UTSW	17	81,715,709 (GRCm39)	missense	probably damaging	1.00
R1510:Slc8a1	UTSW	17	81,955,547 (GRCm39)	missense	probably damaging	1.00
R1546:Slc8a1	UTSW	17	81,955,676 (GRCm39)	missense	probably damaging	1.00
R1625:Slc8a1	UTSW	17	81,956,670 (GRCm39)	missense	probably damaging	1.00
R1806:Slc8a1	UTSW	17	81,955,916 (GRCm39)	missense	probably damaging	1.00
R1879:Slc8a1	UTSW	17	81,955,442 (GRCm39)	missense	probably damaging	1.00
R2025:Slc8a1	UTSW	17	81,956,541 (GRCm39)	missense	probably damaging	1.00
R2187:Slc8a1	UTSW	17	81,955,982 (GRCm39)	missense	possibly damaging	0.48
R2198:Slc8a1	UTSW	17	81,715,685 (GRCm39)	nonsense	probably null
R3856:Slc8a1	UTSW	17	81,955,803 (GRCm39)	missense	probably benign
R4067:Slc8a1	UTSW	17	81,955,703 (GRCm39)	missense	probably damaging	1.00
R4224:Slc8a1	UTSW	17	81,956,781 (GRCm39)	missense	probably damaging	1.00
R4225:Slc8a1	UTSW	17	81,956,781 (GRCm39)	missense	probably damaging	1.00
R5028:Slc8a1	UTSW	17	81,956,702 (GRCm39)	missense	possibly damaging	0.91
R5307:Slc8a1	UTSW	17	81,956,653 (GRCm39)	missense	probably damaging	1.00
R5766:Slc8a1	UTSW	17	81,956,390 (GRCm39)	missense	probably damaging	0.97
R5787:Slc8a1	UTSW	17	81,696,166 (GRCm39)	missense	probably damaging	1.00
R5902:Slc8a1	UTSW	17	81,715,511 (GRCm39)	missense	probably damaging	1.00
R5913:Slc8a1	UTSW	17	81,955,431 (GRCm39)	missense	probably damaging	1.00
R6017:Slc8a1	UTSW	17	81,955,683 (GRCm39)	missense	probably damaging	1.00
R6481:Slc8a1	UTSW	17	81,696,347 (GRCm39)	missense	probably benign
R6670:Slc8a1	UTSW	17	81,956,883 (GRCm39)	missense	probably damaging	1.00
R6714:Slc8a1	UTSW	17	81,715,678 (GRCm39)	missense	probably damaging	1.00
R6914:Slc8a1	UTSW	17	81,715,549 (GRCm39)	missense	probably damaging	1.00
R6919:Slc8a1	UTSW	17	81,696,301 (GRCm39)	missense	probably damaging	1.00
R6942:Slc8a1	UTSW	17	81,715,549 (GRCm39)	missense	probably damaging	1.00
R7057:Slc8a1	UTSW	17	81,956,524 (GRCm39)	missense	probably damaging	1.00
R7431:Slc8a1	UTSW	17	81,749,092 (GRCm39)	missense	probably benign	0.00
R7447:Slc8a1	UTSW	17	81,956,435 (GRCm39)	missense	probably damaging	1.00
R7480:Slc8a1	UTSW	17	81,956,649 (GRCm39)	missense	probably damaging	1.00
R7572:Slc8a1	UTSW	17	81,749,200 (GRCm39)	critical splice donor site	probably null
R8056:Slc8a1	UTSW	17	81,955,352 (GRCm39)	missense	probably damaging	1.00
R8326:Slc8a1	UTSW	17	81,715,535 (GRCm39)	missense	probably damaging	0.98
R8782:Slc8a1	UTSW	17	81,955,442 (GRCm39)	missense	probably damaging	1.00
R8905:Slc8a1	UTSW	17	81,749,084 (GRCm39)	missense	probably benign	0.05
R9057:Slc8a1	UTSW	17	81,955,479 (GRCm39)	missense	probably benign
R9441:Slc8a1	UTSW	17	81,956,498 (GRCm39)	missense	probably damaging	1.00
R9616:Slc8a1	UTSW	17	81,955,407 (GRCm39)	missense	probably benign	0.25
R9657:Slc8a1	UTSW	17	81,955,244 (GRCm39)	missense	probably damaging	1.00
X0024:Slc8a1	UTSW	17	81,740,191 (GRCm39)	missense	probably benign	0.11
Z1186:Slc8a1	UTSW	17	81,955,311 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGGTTTCTTGAATTGCAC -3'
(R):5'- GAAGATGGCATACTAGAATCCAATC -3'

Sequencing Primer
(F):5'- TTCTTGAATTGCACTTGTTAAAAGAG -3'
(R):5'- GAATCCAATCACGCTTCTTCAATTG -3'

Posted On

2021-10-11