Incidental Mutation 'IGL01610:Slc8a3'
ID91978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc8a3
Ensembl Gene ENSMUSG00000079055
Gene Namesolute carrier family 8 (sodium/calcium exchanger), member 3
SynonymsNcx3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01610
Quality Score
Status
Chromosome12
Chromosomal Location81197915-81333180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81315802 bp
ZygosityHeterozygous
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]
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: 46,199,566 probably benign Het
2810474O19Rik C T 6: 149,328,951 T1165M probably benign Het
4921524J17Rik T C 8: 85,412,242 I73V probably benign Het
4930562C15Rik T A 16: 4,851,565 probably benign Het
Abca15 T A 7: 120,340,644 V323D probably damaging Het
Acot10 T C 15: 20,665,695 Y320C probably damaging Het
Acp6 T A 3: 97,175,720 V349D possibly damaging Het
Adcy9 G T 16: 4,418,114 Q478K probably damaging Het
Akap13 A T 7: 75,747,605 I2528F probably damaging Het
Akap13 A G 7: 75,720,180 I1843V possibly damaging Het
Akap9 G A 5: 4,032,839 A1988T possibly damaging Het
Alox5 C T 6: 116,413,547 V490M probably damaging Het
Aspm C T 1: 139,489,670 R1537* probably null Het
Bmf G A 2: 118,549,158 P46S probably benign Het
Brf1 T A 12: 112,988,083 H92L probably benign Het
Chchd1 A G 14: 20,703,177 N35S probably benign Het
Cntnap3 C T 13: 64,757,301 G889S probably damaging Het
Col6a4 T C 9: 106,047,707 probably benign Het
Crispld1 A G 1: 17,746,725 probably null Het
Ddx27 T C 2: 167,022,044 probably benign Het
Dennd1b A G 1: 139,169,766 probably benign Het
Dennd4a T C 9: 64,906,884 V1461A probably damaging Het
Drc7 C T 8: 95,077,802 R843W probably damaging Het
Dync2li1 A G 17: 84,628,314 E13G probably damaging Het
Egf A G 3: 129,706,260 probably benign Het
Hpse2 T C 19: 43,384,789 S134G probably benign Het
Hydin A G 8: 110,557,713 T3206A probably benign Het
Ier5l T A 2: 30,473,954 S20C probably damaging Het
Il1r1 A G 1: 40,302,400 E324G probably benign Het
Kdm4b C T 17: 56,353,522 probably benign Het
Lztfl1 T A 9: 123,700,091 E298D probably benign Het
Myo1b A T 1: 51,776,246 M647K probably damaging Het
Olfr1106 G T 2: 87,048,288 probably benign Het
Olfr539 C T 7: 140,667,671 A128V probably damaging Het
Olfr619 A T 7: 103,604,067 T138S probably benign Het
Parvb A T 15: 84,303,465 K258M probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pcnx2 C A 8: 125,839,633 A1024S possibly damaging Het
Pde4a T C 9: 21,211,350 probably benign Het
Pgr A T 9: 8,903,691 H571L possibly damaging Het
Phf20 G T 2: 156,302,889 E806* probably null Het
Pilra T A 5: 137,835,541 I85F probably damaging Het
Pla2g2f C T 4: 138,753,311 V125M probably damaging Het
Rb1cc1 A G 1: 6,248,481 N708S probably benign Het
Rnase4 A T 14: 51,104,921 Y34F probably damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpl9-ps6 T A 19: 32,466,299 T85S probably benign Het
Scaf8 C T 17: 3,195,849 P738S probably damaging Het
Sec31a A T 5: 100,402,358 probably benign Het
Sel1l C T 12: 91,817,290 V459I probably damaging Het
Senp7 A T 16: 56,175,823 D755V possibly damaging Het
Serpinb9d A T 13: 33,198,002 K151N probably benign Het
Spire2 T A 8: 123,356,763 L162Q probably damaging Het
Syt17 A G 7: 118,433,993 I264T possibly damaging Het
Tbl3 A T 17: 24,704,044 V379D probably damaging Het
Tenm3 A T 8: 48,254,477 L1762Q probably damaging Het
Trerf1 A T 17: 47,319,575 noncoding transcript Het
Ttc13 T C 8: 124,676,344 D552G probably damaging Het
Tuba3a G T 6: 125,278,566 T382K possibly damaging Het
Vmn1r210 A T 13: 22,827,807 V103E probably damaging Het
Vmn1r80 A G 7: 12,193,380 H139R possibly damaging Het
Xpo7 A T 14: 70,703,230 F141Y probably damaging Het
Zfp143 T A 7: 110,074,126 Y143* probably null Het
Zfp207 T A 11: 80,385,970 C26S probably damaging Het
Other mutations in Slc8a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Slc8a3 APN 12 81314569 missense probably benign
IGL01315:Slc8a3 APN 12 81314395 missense probably damaging 0.97
IGL01365:Slc8a3 APN 12 81315376 missense probably damaging 0.99
IGL02227:Slc8a3 APN 12 81315683 missense probably damaging 1.00
IGL02299:Slc8a3 APN 12 81315224 missense probably damaging 0.98
IGL02548:Slc8a3 APN 12 81204156 splice site probably benign
IGL02646:Slc8a3 APN 12 81315094 missense probably damaging 1.00
IGL03135:Slc8a3 APN 12 81202249 missense probably damaging 1.00
R0050:Slc8a3 UTSW 12 81315265 missense probably damaging 1.00
R0627:Slc8a3 UTSW 12 81314842 missense probably damaging 1.00
R0648:Slc8a3 UTSW 12 81314446 missense probably damaging 1.00
R1342:Slc8a3 UTSW 12 81316016 missense probably damaging 0.99
R1437:Slc8a3 UTSW 12 81315986 missense probably damaging 0.99
R1470:Slc8a3 UTSW 12 81199710 missense probably benign
R1470:Slc8a3 UTSW 12 81199710 missense probably benign
R1557:Slc8a3 UTSW 12 81315557 missense probably damaging 1.00
R1563:Slc8a3 UTSW 12 81205007 missense possibly damaging 0.47
R1918:Slc8a3 UTSW 12 81314844 missense probably damaging 0.99
R1930:Slc8a3 UTSW 12 81314446 missense probably damaging 1.00
R1931:Slc8a3 UTSW 12 81314446 missense probably damaging 1.00
R2232:Slc8a3 UTSW 12 81315220 missense probably damaging 0.99
R2680:Slc8a3 UTSW 12 81202339 missense probably damaging 0.99
R2941:Slc8a3 UTSW 12 81315179 missense probably damaging 1.00
R3157:Slc8a3 UTSW 12 81314992 missense probably damaging 1.00
R3159:Slc8a3 UTSW 12 81314992 missense probably damaging 1.00
R3751:Slc8a3 UTSW 12 81204138 missense probably damaging 1.00
R3859:Slc8a3 UTSW 12 81314872 missense probably damaging 0.99
R4240:Slc8a3 UTSW 12 81315176 missense probably damaging 0.99
R4527:Slc8a3 UTSW 12 81315853 missense probably damaging 1.00
R4547:Slc8a3 UTSW 12 81314851 missense possibly damaging 0.76
R4951:Slc8a3 UTSW 12 81314699 missense probably benign 0.31
R4951:Slc8a3 UTSW 12 81315986 missense probably damaging 0.99
R5022:Slc8a3 UTSW 12 81199558 missense probably damaging 0.96
R5049:Slc8a3 UTSW 12 81214132 missense probably damaging 1.00
R5057:Slc8a3 UTSW 12 81199558 missense probably damaging 0.96
R5104:Slc8a3 UTSW 12 81214134 missense probably null 0.34
R5122:Slc8a3 UTSW 12 81314258 critical splice donor site probably null
R5183:Slc8a3 UTSW 12 81314491 missense possibly damaging 0.79
R5629:Slc8a3 UTSW 12 81199631 missense probably damaging 1.00
R6062:Slc8a3 UTSW 12 81314350 missense probably damaging 1.00
R6218:Slc8a3 UTSW 12 81199567 missense probably benign
R6279:Slc8a3 UTSW 12 81314978 missense probably damaging 0.99
R6300:Slc8a3 UTSW 12 81314978 missense probably damaging 0.99
R6416:Slc8a3 UTSW 12 81315627 missense probably damaging 1.00
R6790:Slc8a3 UTSW 12 81314432 missense probably benign 0.00
R6999:Slc8a3 UTSW 12 81314755 missense probably benign 0.06
R7195:Slc8a3 UTSW 12 81314273 missense possibly damaging 0.95
R7268:Slc8a3 UTSW 12 81315053 missense probably damaging 0.98
R7288:Slc8a3 UTSW 12 81216824 missense possibly damaging 0.70
R7383:Slc8a3 UTSW 12 81315805 missense probably damaging 1.00
R7392:Slc8a3 UTSW 12 81314803 missense probably damaging 0.99
R7394:Slc8a3 UTSW 12 81214058 splice site probably null
R7549:Slc8a3 UTSW 12 81314770 missense probably benign 0.06
R7657:Slc8a3 UTSW 12 81314384 missense probably damaging 1.00
R7759:Slc8a3 UTSW 12 81314551 missense probably benign
R8059:Slc8a3 UTSW 12 81202258 missense probably damaging 1.00
X0026:Slc8a3 UTSW 12 81315287 missense probably benign 0.22
X0028:Slc8a3 UTSW 12 81314943 missense probably damaging 1.00
Z1177:Slc8a3 UTSW 12 81314700 missense possibly damaging 0.92
Z1177:Slc8a3 UTSW 12 81315876 missense probably benign 0.13
Posted On2013-12-09