Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03391:Slc8a1'

421080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc8a1

Ensembl Gene

ENSMUSG00000054640

Gene Name

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

Synonyms

Ncx1, D930008O12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03391

Quality Score

Status

Chromosome

Chromosomal Location

81680534-82045806 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 81740067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126373 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086538

SMART Domains

Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640

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

SMART Domains

Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640

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

SMART Domains

Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,107 (GRCm39)	D586G	probably damaging	Het
Acadvl	A	C	11: 69,901,542 (GRCm39)	M557R	probably damaging	Het
Ano2	T	A	6: 125,784,802 (GRCm39)	N327K	probably damaging	Het
Cdh11	A	T	8: 103,400,655 (GRCm39)	D104E	possibly damaging	Het
Chrnb2	A	G	3: 89,668,184 (GRCm39)	F377S	probably damaging	Het
Cngb1	T	C	8: 96,030,333 (GRCm39)		probably benign	Het
Dnaaf1	C	T	8: 120,309,355 (GRCm39)	R148C	probably damaging	Het
Esrrg	A	T	1: 187,882,420 (GRCm39)	I226F	possibly damaging	Het
Evl	C	A	12: 108,642,358 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,070,128 (GRCm39)	E376G	probably damaging	Het
Gzf1	C	A	2: 148,525,603 (GRCm39)	R25S	probably damaging	Het
Ighv5-2	A	T	12: 113,542,138 (GRCm39)	Y113*	probably null	Het
Izumo4	A	G	10: 80,540,947 (GRCm39)	T216A	probably damaging	Het
Lrp1b	T	G	2: 41,185,653 (GRCm39)	Y1354S	possibly damaging	Het
Mark1	A	G	1: 184,651,632 (GRCm39)		probably benign	Het
Mylpf	A	G	7: 126,812,349 (GRCm39)	I17V	probably benign	Het
Myo18b	C	A	5: 113,022,345 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,533,750 (GRCm39)	A1795V	probably benign	Het
Oprm1	A	C	10: 6,964,077 (GRCm39)		probably benign	Het
Or2ag15	A	T	7: 106,340,962 (GRCm39)	Y60N	probably damaging	Het
Or5b122	A	G	19: 13,563,483 (GRCm39)	M272V	probably benign	Het
Or5w1	A	G	2: 87,487,032 (GRCm39)	S78P	possibly damaging	Het
Parp14	T	C	16: 35,678,640 (GRCm39)	M443V	probably benign	Het
Psca	T	C	15: 74,586,717 (GRCm39)	F5S	probably benign	Het
Ptbp2	A	T	3: 119,514,031 (GRCm39)	Y514*	probably null	Het
Scg3	A	G	9: 75,568,533 (GRCm39)		probably null	Het
Scn2a	T	C	2: 65,594,557 (GRCm39)	V1802A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,072 (GRCm39)	S280P	possibly damaging	Het
Slc39a14	T	C	14: 70,547,291 (GRCm39)	I352V	probably damaging	Het
Slc6a2	G	T	8: 93,688,080 (GRCm39)	V69L	probably damaging	Het
Tjp1	T	C	7: 64,964,717 (GRCm39)	D818G	probably damaging	Het
Tnfaip8	T	C	18: 50,223,552 (GRCm39)	V120A	probably damaging	Het
Trmt5	G	A	12: 73,328,226 (GRCm39)	H326Y	probably benign	Het
Vmn1r222	T	C	13: 23,416,632 (GRCm39)	M194V	possibly damaging	Het
Zbtb17	A	G	4: 141,194,069 (GRCm39)	E699G	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
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
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

Posted On

2016-08-02