Incidental Mutation 'IGL02021:Slc24a3'
ID183952
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: 0.171) question?
Stock #IGL02021
Quality Score
Status
Chromosome2
Chromosomal Location145167754-145642166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 145518916 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 193 (I193N)
Ref Sequence ENSEMBL: ENSMUSP00000105634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
Predicted Effect probably damaging
Transcript: ENSMUST00000081121
AA Change: I143N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: I143N

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 damaging
Transcript: ENSMUST00000110007
AA Change: I193N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: I193N

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A 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
IGL01973:Slc24a3 APN 2 145245027 missense probably benign 0.01
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
R7163:Slc24a3 UTSW 2 145244991 missense probably benign
R7446:Slc24a3 UTSW 2 145580982 missense probably damaging 1.00
R7525:Slc24a3 UTSW 2 145613530 missense probably benign 0.00
Posted On2014-05-07