Incidental Mutation 'R8905:Slc8a1'
ID 680060
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 068762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8905 (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 T at 81749084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 653 (Y653N)
Ref Sequence ENSEMBL: ENSMUSP00000126373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086538] [ENSMUST00000163123] [ENSMUST00000163680] [ENSMUST00000168858]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000086538
AA Change: Y653N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: Y653N

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 benign
Transcript: ENSMUST00000163123
SMART Domains Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640

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: Y653N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: Y653N

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 benign
Transcript: ENSMUST00000168858
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,553 (GRCm39) V236A probably benign Het
Abca15 A T 7: 119,960,771 (GRCm39) R744S probably benign Het
Adgra1 T C 7: 139,455,763 (GRCm39) S464P probably damaging Het
Arhgap45 T C 10: 79,855,570 (GRCm39) V3A probably benign Het
AW554918 T A 18: 25,473,206 (GRCm39) S134T probably damaging Het
Bmper A G 9: 23,318,082 (GRCm39) E567G probably benign Het
C2cd3 T C 7: 100,074,132 (GRCm39) probably null Het
Cars1 A G 7: 143,140,196 (GRCm39) Y170H probably damaging Het
Celsr1 A T 15: 85,788,269 (GRCm39) probably benign Het
Celsr3 C T 9: 108,718,501 (GRCm39) H2351Y probably damaging Het
Cfap210 A G 2: 69,612,104 (GRCm39) S175P probably benign Het
Clxn A G 16: 14,738,275 (GRCm39) I147V possibly damaging Het
Cyp2d11 T C 15: 82,275,102 (GRCm39) I282V probably benign Het
Dhfr A G 13: 92,494,467 (GRCm39) T57A probably damaging Het
Dhrs7l T A 12: 72,666,431 (GRCm39) D80V probably damaging Het
Dnah7b A C 1: 46,292,534 (GRCm39) Q2973P probably damaging Het
Dnajc5b T C 3: 19,633,184 (GRCm39) C136R probably benign Het
Ercc3 T G 18: 32,398,771 (GRCm39) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm39) Y279C probably damaging Het
Fbxw7 T C 3: 84,872,634 (GRCm39) M191T possibly damaging Het
Fcgbp T A 7: 27,785,934 (GRCm39) V457E probably damaging Het
Fip1l1 A T 5: 74,756,624 (GRCm39) T539S probably damaging Het
Gabra1 T C 11: 42,038,052 (GRCm39) T189A possibly damaging Het
Glg1 T C 8: 111,884,668 (GRCm39) D1118G probably damaging Het
Gli3 A G 13: 15,901,116 (GRCm39) D1501G probably benign Het
Hacd1 A G 2: 14,049,761 (GRCm39) I91T possibly damaging Het
Ift22 T C 5: 136,941,745 (GRCm39) V159A probably benign Het
Igkv1-110 T A 6: 68,248,070 (GRCm39) Y60N probably damaging Het
Inpp5d A G 1: 87,637,348 (GRCm39) K502E probably damaging Het
Kcnt2 A T 1: 140,435,467 (GRCm39) Q478L possibly damaging Het
Mettl13 A G 1: 162,364,847 (GRCm39) F511L probably damaging Het
Mis18bp1 T C 12: 65,180,401 (GRCm39) probably null Het
Mrps30 A T 13: 118,523,479 (GRCm39) S98T probably benign Het
Muc2 C T 7: 141,279,643 (GRCm39) A209V probably benign Het
Nfs1 A T 2: 155,970,503 (GRCm39) I270N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm39) S266P probably benign Het
Obscn A G 11: 58,960,784 (GRCm39) S3176P probably damaging Het
Or4c123 A T 2: 89,126,801 (GRCm39) L271Q possibly damaging Het
Or7g12 A G 9: 18,899,494 (GRCm39) D70G possibly damaging Het
P2ry12 T A 3: 59,124,997 (GRCm39) Y226F probably damaging Het
Pabpc2 C A 18: 39,907,704 (GRCm39) T323K probably benign Het
Pank2 A G 2: 131,124,646 (GRCm39) D71G possibly damaging Het
Patj A T 4: 98,385,412 (GRCm39) H393L probably damaging Het
Pde8b A G 13: 95,182,993 (GRCm39) V255A probably damaging Het
Plekhs1 T C 19: 56,471,028 (GRCm39) W374R probably damaging Het
Ppm1g T C 5: 31,361,437 (GRCm39) D313G probably damaging Het
Rnf114 A G 2: 167,353,134 (GRCm39) N135S probably benign Het
Rnf43 T G 11: 87,621,951 (GRCm39) Y351D probably damaging Het
Robo1 A T 16: 72,539,173 (GRCm39) D90V probably damaging Het
Sbds A G 5: 130,277,125 (GRCm39) V172A possibly damaging Het
Scamp5 T A 9: 57,352,669 (GRCm39) I167F probably benign Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sfxn1 T A 13: 54,246,433 (GRCm39) V159E probably damaging Het
Sgsm1 C T 5: 113,421,495 (GRCm39) G531R probably benign Het
Slc22a26 T A 19: 7,760,331 (GRCm39) I471F probably damaging Het
Slc41a3 T A 6: 90,589,123 (GRCm39) M78K probably benign Het
Slco6c1 A T 1: 97,053,391 (GRCm39) M170K possibly damaging Het
Smarca5 A T 8: 81,440,577 (GRCm39) I629K probably benign Het
Smg7 T A 1: 152,715,817 (GRCm39) D1099V probably damaging Het
Spata31e2 A G 1: 26,721,895 (GRCm39) V1095A probably damaging Het
Srbd1 T C 17: 86,308,890 (GRCm39) I763V probably benign Het
Stk25 A G 1: 93,556,929 (GRCm39) S30P probably damaging Het
Sv2b C T 7: 74,767,459 (GRCm39) A646T probably benign Het
Tardbp T C 4: 148,705,093 (GRCm39) M167V probably benign Het
Tmem132a T C 19: 10,842,647 (GRCm39) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm39) S162T probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Vmn2r3 T A 3: 64,166,695 (GRCm39) Y812F probably damaging Het
Yeats2 A G 16: 20,009,144 (GRCm39) T463A probably benign Het
Zbtb26 T A 2: 37,326,927 (GRCm39) K36N probably benign Het
Zfc3h1 A T 10: 115,259,383 (GRCm39) T1652S probably benign Het
Zfp472 G A 17: 33,197,455 (GRCm39) C510Y possibly damaging Het
Zfp518a C A 19: 40,902,780 (GRCm39) T903K probably damaging Het
Zfp668 T C 7: 127,465,598 (GRCm39) T529A probably benign Het
Zfp930 A G 8: 69,681,351 (GRCm39) T349A possibly damaging Het
Zmiz2 T G 11: 6,346,840 (GRCm39) Y182D 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
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
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'- ACAAACAGTTAGAGGTTCTGCC -3'
(R):5'- AAATCTGGCAATTGTTCAGGTG -3'

Sequencing Primer
(F):5'- CTGCCTGTGAGTTTTGTTATAGATAG -3'
(R):5'- ACTGTTACTGTCACCACC -3'
Posted On 2021-08-31