Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Slc8a1'

724626

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81680534-82045806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81955407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 544 (T544A)

Ref Sequence

ENSEMBL: ENSMUSP00000132809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086538
AA Change: T544A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: T544A

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

probably benign
Transcript: ENSMUST00000163123
AA Change: T544A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: T544A

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

probably benign
Transcript: ENSMUST00000163680
AA Change: T544A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: T544A

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: 99.6%
20x: 99.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,580,915 (GRCm39)	D111G	probably benign	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddc	C	T	11: 11,772,288 (GRCm39)	W349*	probably null	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Dpp4	T	C	2: 62,217,429 (GRCm39)	Y56C	probably damaging	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fbxo11	T	A	17: 88,316,098 (GRCm39)	H368L		Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Per1	G	T	11: 68,993,554 (GRCm39)	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	probably benign	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
R8987:Slc8a1	UTSW	17	81,955,282 (GRCm39)	missense	possibly damaging	0.79
R9057:Slc8a1	UTSW	17	81,955,479 (GRCm39)	missense	probably benign
R9441:Slc8a1	UTSW	17	81,956,498 (GRCm39)	missense	probably damaging	1.00
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'- GAAATCAGAGTTGGCATCATTGATG -3'

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

Posted On

2022-09-12