Incidental Mutation 'IGL02548:Slc8a3'
ID 297952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc8a3
Ensembl Gene ENSMUSG00000079055
Gene Name solute carrier family 8 (sodium/calcium exchanger), member 3
Synonyms Ncx3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02548
Quality Score
Status
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 81250930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208] [ENSMUST00000182366]
AlphaFold S4R2P9
Predicted Effect probably benign
Transcript: ENSMUST00000064594
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 79 250 1.3e-36 PFAM
Pfam:Na_Ca_ex_C 253 379 4.6e-57 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.04e-40 SMART
low complexity region 712 723 N/A INTRINSIC
Pfam:Na_Ca_ex 754 919 2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085238
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 79 250 1.3e-36 PFAM
Pfam:Na_Ca_ex_C 253 379 4.6e-57 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.54e-43 SMART
low complexity region 705 716 N/A INTRINSIC
Pfam:Na_Ca_ex 747 912 1.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182208
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 89 248 8.1e-38 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.04e-40 SMART
low complexity region 712 723 N/A INTRINSIC
Pfam:Na_Ca_ex 764 917 9.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182366
SMART Domains Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
PDB:2LT9|A 1 52 2e-28 PDB
low complexity region 82 93 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,654,686 (GRCm39) A545V probably damaging Het
Adam29 A T 8: 56,325,902 (GRCm39) L184* probably null Het
Ap1g1 C T 8: 110,576,254 (GRCm39) A432V probably damaging Het
Atrn C T 2: 130,814,202 (GRCm39) T716I probably damaging Het
Bahd1 C A 2: 118,747,526 (GRCm39) Q382K possibly damaging Het
Barhl2 A G 5: 106,603,391 (GRCm39) V256A probably benign Het
Camta2 A G 11: 70,561,511 (GRCm39) F1113L probably damaging Het
Cdh23 G T 10: 60,485,901 (GRCm39) T38K probably benign Het
Cmtm3 T C 8: 105,071,437 (GRCm39) L111P probably damaging Het
Col27a1 T C 4: 63,236,492 (GRCm39) probably benign Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Flt1 C A 5: 147,576,058 (GRCm39) R650L probably benign Het
Fpr1 T A 17: 18,096,915 (GRCm39) E358V probably benign Het
Ggnbp2 A T 11: 84,753,112 (GRCm39) N42K possibly damaging Het
Gldc T C 19: 30,077,299 (GRCm39) T958A probably benign Het
Gm3573 A G 14: 42,009,452 (GRCm39) probably null Het
Hspbp1 T C 7: 4,684,840 (GRCm39) probably benign Het
Jhy G T 9: 40,828,471 (GRCm39) Y478* probably null Het
Kiz A G 2: 146,712,690 (GRCm39) E118G probably damaging Het
Klhdc1 A G 12: 69,300,492 (GRCm39) Y144C probably benign Het
Lamc3 A T 2: 31,810,674 (GRCm39) Y848F probably benign Het
Mixl1 T C 1: 180,522,269 (GRCm39) E204G probably benign Het
Muc2 T A 7: 141,305,594 (GRCm39) C202S probably damaging Het
Nfatc1 T C 18: 80,741,113 (GRCm39) S282G probably damaging Het
Or2j6 T A 7: 139,980,575 (GRCm39) Y128F probably damaging Het
Or5b111 T C 19: 13,291,302 (GRCm39) M116V probably damaging Het
Or5k8 C A 16: 58,644,691 (GRCm39) C127F probably benign Het
Orc2 A T 1: 58,505,281 (GRCm39) probably benign Het
Pcdhb10 T C 18: 37,545,743 (GRCm39) I273T probably benign Het
Pdzph1 G A 17: 59,280,386 (GRCm39) T632I probably benign Het
Phf1 A G 17: 27,154,600 (GRCm39) Y225C probably damaging Het
Pramel17 T A 4: 101,692,770 (GRCm39) Y410F probably damaging Het
Prcp T C 7: 92,550,382 (GRCm39) F60L probably damaging Het
Psg21 C T 7: 18,388,961 (GRCm39) V44I possibly damaging Het
Ptgdr C T 14: 45,096,071 (GRCm39) V214M probably damaging Het
Pth1r G A 9: 110,556,748 (GRCm39) R181W probably damaging Het
Ralgapb A G 2: 158,286,585 (GRCm39) I343M probably damaging Het
Retreg1 C T 15: 25,895,204 (GRCm39) Q128* probably null Het
Rrbp1 T C 2: 143,791,679 (GRCm39) probably benign Het
Skint5 T A 4: 113,588,273 (GRCm39) M726L unknown Het
Slc6a18 T C 13: 73,818,114 (GRCm39) Y301C probably damaging Het
Tacr3 C A 3: 134,535,232 (GRCm39) Q67K probably damaging Het
Tfrc A T 16: 32,443,640 (GRCm39) K534* probably null Het
Timp3 T A 10: 86,174,315 (GRCm39) M67K probably benign Het
Tmem120a C T 5: 135,765,628 (GRCm39) E179K probably damaging Het
Tomm40l G A 1: 171,049,216 (GRCm39) probably benign Het
Tubal3 A G 13: 3,980,554 (GRCm39) R89G probably benign Het
Wdr35 A T 12: 9,074,297 (GRCm39) N976I probably benign Het
Zfp292 T C 4: 34,805,416 (GRCm39) T2543A probably damaging Het
Zfp976 T A 7: 42,261,953 (GRCm39) H628L unknown Het
Zmynd8 A G 2: 165,675,325 (GRCm39) V301A probably damaging Het
Other mutations in Slc8a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Slc8a3 APN 12 81,361,343 (GRCm39) missense probably benign
IGL01315:Slc8a3 APN 12 81,361,169 (GRCm39) missense probably damaging 0.97
IGL01365:Slc8a3 APN 12 81,362,150 (GRCm39) missense probably damaging 0.99
IGL01610:Slc8a3 APN 12 81,362,576 (GRCm39) missense probably damaging 1.00
IGL02227:Slc8a3 APN 12 81,362,457 (GRCm39) missense probably damaging 1.00
IGL02299:Slc8a3 APN 12 81,361,998 (GRCm39) missense probably damaging 0.98
IGL02646:Slc8a3 APN 12 81,361,868 (GRCm39) missense probably damaging 1.00
IGL03135:Slc8a3 APN 12 81,249,023 (GRCm39) missense probably damaging 1.00
R0050:Slc8a3 UTSW 12 81,362,039 (GRCm39) missense probably damaging 1.00
R0627:Slc8a3 UTSW 12 81,361,616 (GRCm39) missense probably damaging 1.00
R0648:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R1342:Slc8a3 UTSW 12 81,362,790 (GRCm39) missense probably damaging 0.99
R1437:Slc8a3 UTSW 12 81,362,760 (GRCm39) missense probably damaging 0.99
R1470:Slc8a3 UTSW 12 81,246,484 (GRCm39) missense probably benign
R1470:Slc8a3 UTSW 12 81,246,484 (GRCm39) missense probably benign
R1557:Slc8a3 UTSW 12 81,362,331 (GRCm39) missense probably damaging 1.00
R1563:Slc8a3 UTSW 12 81,251,781 (GRCm39) missense possibly damaging 0.47
R1918:Slc8a3 UTSW 12 81,361,618 (GRCm39) missense probably damaging 0.99
R1930:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R1931:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R2232:Slc8a3 UTSW 12 81,361,994 (GRCm39) missense probably damaging 0.99
R2680:Slc8a3 UTSW 12 81,249,113 (GRCm39) missense probably damaging 0.99
R2941:Slc8a3 UTSW 12 81,361,953 (GRCm39) missense probably damaging 1.00
R3157:Slc8a3 UTSW 12 81,361,766 (GRCm39) missense probably damaging 1.00
R3159:Slc8a3 UTSW 12 81,361,766 (GRCm39) missense probably damaging 1.00
R3751:Slc8a3 UTSW 12 81,250,912 (GRCm39) missense probably damaging 1.00
R3859:Slc8a3 UTSW 12 81,361,646 (GRCm39) missense probably damaging 0.99
R4240:Slc8a3 UTSW 12 81,361,950 (GRCm39) missense probably damaging 0.99
R4527:Slc8a3 UTSW 12 81,362,627 (GRCm39) missense probably damaging 1.00
R4547:Slc8a3 UTSW 12 81,361,625 (GRCm39) missense possibly damaging 0.76
R4951:Slc8a3 UTSW 12 81,362,760 (GRCm39) missense probably damaging 0.99
R4951:Slc8a3 UTSW 12 81,361,473 (GRCm39) missense probably benign 0.31
R5022:Slc8a3 UTSW 12 81,246,332 (GRCm39) missense probably damaging 0.96
R5049:Slc8a3 UTSW 12 81,260,906 (GRCm39) missense probably damaging 1.00
R5057:Slc8a3 UTSW 12 81,246,332 (GRCm39) missense probably damaging 0.96
R5104:Slc8a3 UTSW 12 81,260,908 (GRCm39) missense probably null 0.34
R5122:Slc8a3 UTSW 12 81,361,032 (GRCm39) critical splice donor site probably null
R5183:Slc8a3 UTSW 12 81,361,265 (GRCm39) missense possibly damaging 0.79
R5629:Slc8a3 UTSW 12 81,246,405 (GRCm39) missense probably damaging 1.00
R6062:Slc8a3 UTSW 12 81,361,124 (GRCm39) missense probably damaging 1.00
R6218:Slc8a3 UTSW 12 81,246,341 (GRCm39) missense probably benign
R6279:Slc8a3 UTSW 12 81,361,752 (GRCm39) missense probably damaging 0.99
R6300:Slc8a3 UTSW 12 81,361,752 (GRCm39) missense probably damaging 0.99
R6416:Slc8a3 UTSW 12 81,362,401 (GRCm39) missense probably damaging 1.00
R6790:Slc8a3 UTSW 12 81,361,206 (GRCm39) missense probably benign 0.00
R6999:Slc8a3 UTSW 12 81,361,529 (GRCm39) missense probably benign 0.06
R7195:Slc8a3 UTSW 12 81,361,047 (GRCm39) missense possibly damaging 0.95
R7268:Slc8a3 UTSW 12 81,361,827 (GRCm39) missense probably damaging 0.98
R7288:Slc8a3 UTSW 12 81,263,598 (GRCm39) missense possibly damaging 0.70
R7383:Slc8a3 UTSW 12 81,362,579 (GRCm39) missense probably damaging 1.00
R7392:Slc8a3 UTSW 12 81,361,577 (GRCm39) missense probably damaging 0.99
R7394:Slc8a3 UTSW 12 81,260,832 (GRCm39) splice site probably null
R7549:Slc8a3 UTSW 12 81,361,544 (GRCm39) missense probably benign 0.06
R7657:Slc8a3 UTSW 12 81,361,158 (GRCm39) missense probably damaging 1.00
R7699:Slc8a3 UTSW 12 81,361,247 (GRCm39) missense probably damaging 1.00
R7759:Slc8a3 UTSW 12 81,361,325 (GRCm39) missense probably benign
R7960:Slc8a3 UTSW 12 81,263,506 (GRCm39) missense probably benign 0.00
R7985:Slc8a3 UTSW 12 81,361,767 (GRCm39) missense probably damaging 1.00
R8059:Slc8a3 UTSW 12 81,249,032 (GRCm39) missense probably damaging 1.00
R8192:Slc8a3 UTSW 12 81,246,455 (GRCm39) missense probably damaging 1.00
R8397:Slc8a3 UTSW 12 81,246,542 (GRCm39) missense probably benign 0.45
R8413:Slc8a3 UTSW 12 81,361,452 (GRCm39) missense probably damaging 0.97
R8681:Slc8a3 UTSW 12 81,361,914 (GRCm39) missense probably benign
R9060:Slc8a3 UTSW 12 81,260,852 (GRCm39) missense probably benign 0.45
R9061:Slc8a3 UTSW 12 81,263,540 (GRCm39) missense probably damaging 0.99
R9267:Slc8a3 UTSW 12 81,361,208 (GRCm39) missense possibly damaging 0.77
R9416:Slc8a3 UTSW 12 81,361,838 (GRCm39) missense probably benign 0.06
R9519:Slc8a3 UTSW 12 81,362,326 (GRCm39) missense probably benign 0.30
R9531:Slc8a3 UTSW 12 81,361,997 (GRCm39) missense probably damaging 1.00
X0026:Slc8a3 UTSW 12 81,362,061 (GRCm39) missense probably benign 0.22
X0028:Slc8a3 UTSW 12 81,361,717 (GRCm39) missense probably damaging 1.00
Z1177:Slc8a3 UTSW 12 81,362,650 (GRCm39) missense probably benign 0.13
Z1177:Slc8a3 UTSW 12 81,361,474 (GRCm39) missense possibly damaging 0.92
Posted On 2015-04-16