Incidental Mutation 'R6919:Slc8a1'
ID 539545
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 045039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 81680534-82045806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81696301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 911 (F911S)
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 damaging
Transcript: ENSMUST00000086538
AA Change: F911S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: F911S

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: F899S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: F899S

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: F911S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: F911S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TATGTGGCAGTAGGCTTCCAG -3'
(R):5'- AACTCAGTGTCATGGTCTGTTTC -3'

Sequencing Primer
(F):5'- CAGTAGGCTTCCAGGGAGG -3'
(R):5'- TTTGCCAGCAAAGTAGCAGC -3'
Posted On 2018-11-06