Incidental Mutation 'IGL01610:Slc8a3'
ID 91978
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 # IGL01610
Quality Score
Status
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81362576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 81 (F81S)
Ref Sequence ENSEMBL: ENSMUSP00000063258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect probably damaging
Transcript: ENSMUST00000064594
AA Change: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: F81S

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 damaging
Transcript: ENSMUST00000085238
AA Change: F81S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: F81S

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 damaging
Transcript: ENSMUST00000182208
AA Change: F81S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: F81S

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 noncoding transcript
Transcript: ENSMUST00000183102
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Adcy9 G T 16: 4,235,978 (GRCm39) Q478K probably damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Ddx27 T C 2: 166,863,964 (GRCm39) probably benign Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or52z14 A T 7: 103,253,274 (GRCm39) T138S probably benign Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pilra T A 5: 137,833,803 (GRCm39) I85F probably damaging Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sec31a A T 5: 100,550,217 (GRCm39) probably benign Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S 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
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
IGL02548:Slc8a3 APN 12 81,250,930 (GRCm39) splice site probably benign
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 2013-12-09