Incidental Mutation 'IGL01973:Slc24a3'
ID182586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc24a3
Ensembl Gene ENSMUSG00000063873
Gene Namesolute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SynonymsNCKX3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL01973
Quality Score
Status
Chromosome2
Chromosomal Location145167754-145642166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 145245027 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000079897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
Predicted Effect probably benign
Transcript: ENSMUST00000081121
AA Change: V19A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: V19A

DomainStartEndE-ValueType
Pfam:Na_Ca_ex 72 204 8.6e-33 PFAM
coiled coil region 353 382 N/A INTRINSIC
Pfam:Na_Ca_ex 437 577 2.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110007
AA Change: V69A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: V69A

DomainStartEndE-ValueType
low complexity region 11 19 N/A INTRINSIC
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Na_Ca_ex 112 255 2.6e-32 PFAM
coiled coil region 403 432 N/A INTRINSIC
Pfam:Na_Ca_ex 477 629 6.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153249
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,011,171 W59R probably damaging Het
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cts7 A T 13: 61,355,600 D183E probably benign Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Fbxl4 T G 4: 22,422,766 L456R probably damaging Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Ntsr2 T A 12: 16,656,774 W268R probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Prkd1 C T 12: 50,366,379 G670R probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in Slc24a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc24a3 APN 2 145616714 critical splice donor site probably null
IGL01327:Slc24a3 APN 2 145602558 missense probably benign
IGL01413:Slc24a3 APN 2 145640249 missense probably damaging 1.00
IGL01418:Slc24a3 APN 2 145640249 missense probably damaging 1.00
IGL01468:Slc24a3 APN 2 145613580 missense probably benign 0.16
IGL01629:Slc24a3 APN 2 145640210 splice site probably benign
IGL02021:Slc24a3 APN 2 145518916 missense probably damaging 1.00
IGL02378:Slc24a3 APN 2 145518402 missense possibly damaging 0.78
R0242:Slc24a3 UTSW 2 145606664 missense probably benign 0.02
R0242:Slc24a3 UTSW 2 145606664 missense probably benign 0.02
R0685:Slc24a3 UTSW 2 145606795 missense probably benign 0.00
R0827:Slc24a3 UTSW 2 145518492 splice site probably benign
R1669:Slc24a3 UTSW 2 145613592 missense probably damaging 1.00
R2698:Slc24a3 UTSW 2 145613567 missense probably benign 0.01
R3796:Slc24a3 UTSW 2 145616681 missense probably damaging 1.00
R4073:Slc24a3 UTSW 2 145613716 intron probably benign
R4386:Slc24a3 UTSW 2 145606826 missense probably benign 0.00
R5125:Slc24a3 UTSW 2 145518847 missense possibly damaging 0.95
R5169:Slc24a3 UTSW 2 145640264 missense probably benign 0.18
R5248:Slc24a3 UTSW 2 145604517 missense probably benign 0.40
R5394:Slc24a3 UTSW 2 145613574 missense probably benign 0.42
R5549:Slc24a3 UTSW 2 145606864 missense probably damaging 1.00
R6476:Slc24a3 UTSW 2 145606830 missense probably benign
R6777:Slc24a3 UTSW 2 145640282 missense probably damaging 1.00
R6814:Slc24a3 UTSW 2 145616710 nonsense probably null
Posted On2014-05-07