Incidental Mutation 'IGL00777:Slc8a1'
ID 14126
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 # IGL00777
Quality Score
Status
Chromosome 17
Chromosomal Location 81680534-82045806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81956009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 343 (I343T)
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: I343T

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: I343T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000163123
AA Change: I343T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: I343T

DomainStartEndE-ValueType
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: I343T

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: I343T

DomainStartEndE-ValueType
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,183,100 (GRCm39) I82T probably damaging Het
Cd72 T C 4: 43,448,365 (GRCm39) Y305C possibly damaging Het
Cldn34c1 T C X: 122,052,570 (GRCm39) L103P probably damaging Het
Dhtkd1 A T 2: 5,934,468 (GRCm39) L234H probably damaging Het
H1f4 T A 13: 23,806,005 (GRCm39) probably benign Het
Hgd A G 16: 37,433,611 (GRCm39) T77A probably damaging Het
Itgad A T 7: 127,803,022 (GRCm39) T1059S probably damaging Het
Klhl20 T C 1: 160,937,325 (GRCm39) T17A probably benign Het
Lct T C 1: 128,215,293 (GRCm39) D1761G probably benign Het
Mmp23 T G 4: 155,735,464 (GRCm39) Y334S possibly damaging Het
Ncapg A G 5: 45,853,107 (GRCm39) S858G possibly damaging Het
Nsd1 G A 13: 55,386,548 (GRCm39) G101E probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Phex A G X: 155,960,528 (GRCm39) L672P probably damaging Het
Reln A G 5: 22,223,848 (GRCm39) probably null Het
Rfk T A 19: 17,372,700 (GRCm39) V74E probably benign Het
Rubcn A G 16: 32,656,933 (GRCm39) C467R probably damaging Het
Rufy2 G A 10: 62,826,833 (GRCm39) C124Y probably damaging Het
Smyd4 T A 11: 75,281,634 (GRCm39) M369K probably benign Het
Spata31e2 C A 1: 26,721,173 (GRCm39) D1336Y probably damaging Het
Tmem131l G T 3: 83,806,597 (GRCm39) P1408T probably damaging Het
Tmprss11f A G 5: 86,671,924 (GRCm39) Y423H probably damaging Het
Wdr70 A T 15: 8,049,088 (GRCm39) M303K probably benign Het
Other mutations in Slc8a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2012-12-06