Incidental Mutation 'IGL01089:Slc8a1'
ID 53042
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 # IGL01089
Quality Score
Status
Chromosome 17
Chromosomal Location 81680534-82045806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81955710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 443 (T443A)
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 damaging
Transcript: ENSMUST00000086538
AA Change: T443A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: T443A

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: T443A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: T443A

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 damaging
Transcript: ENSMUST00000163680
AA Change: T443A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: T443A

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,710,292 (GRCm39) L353S probably damaging Het
Adgrf2 G A 17: 43,021,049 (GRCm39) P592S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Afap1l2 A C 19: 56,901,843 (GRCm39) probably null Het
Asnsd1 G A 1: 53,387,436 (GRCm39) P64S probably damaging Het
Bmt2 A G 6: 13,663,270 (GRCm39) M76T probably damaging Het
Clca3b A T 3: 144,529,283 (GRCm39) V797D probably benign Het
Cog2 T C 8: 125,271,982 (GRCm39) S499P probably benign Het
Cyp27a1 A T 1: 74,771,097 (GRCm39) Y94F possibly damaging Het
D630045J12Rik A G 6: 38,113,898 (GRCm39) S1765P probably benign Het
Fam149a A G 8: 45,801,564 (GRCm39) L519P possibly damaging Het
Fam171a2 G A 11: 102,328,674 (GRCm39) A695V possibly damaging Het
Fat1 T A 8: 45,470,894 (GRCm39) V1566E probably damaging Het
Flvcr1 T G 1: 190,745,587 (GRCm39) N361H probably damaging Het
Gm1110 T C 9: 26,793,156 (GRCm39) N540S probably benign Het
Katnip A G 7: 125,394,485 (GRCm39) E187G probably damaging Het
Kcns3 T A 12: 11,141,572 (GRCm39) T376S possibly damaging Het
Krt32 A G 11: 99,978,605 (GRCm39) S150P probably benign Het
Liat1 A G 11: 75,894,163 (GRCm39) E180G possibly damaging Het
Lrtm2 C T 6: 119,297,753 (GRCm39) R96Q possibly damaging Het
Mctp1 A G 13: 77,168,917 (GRCm39) E838G probably damaging Het
Mios T C 6: 8,234,363 (GRCm39) probably null Het
Or1j10 A T 2: 36,267,178 (GRCm39) Y130F probably damaging Het
Phldb1 T A 9: 44,619,184 (GRCm39) K167* probably null Het
Pkhd1l1 A G 15: 44,347,265 (GRCm39) probably benign Het
Plaa A G 4: 94,462,284 (GRCm39) V531A probably benign Het
Psmb2 A G 4: 126,577,999 (GRCm39) Y59C probably damaging Het
Ptprg A G 14: 12,215,286 (GRCm38) H1091R probably damaging Het
Rbm44 T A 1: 91,096,419 (GRCm39) V926D possibly damaging Het
Rgma G T 7: 73,059,462 (GRCm39) V189L possibly damaging Het
Sbf2 A T 7: 109,948,169 (GRCm39) I1227K probably damaging Het
Taf2 T C 15: 54,879,977 (GRCm39) M1120V probably benign Het
Ugt2b34 C T 5: 87,054,185 (GRCm39) V199I probably benign Het
Unc5c C A 3: 141,523,963 (GRCm39) probably benign Het
Usp37 G A 1: 74,532,205 (GRCm39) R63* probably null 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
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
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 2013-06-21