Incidental Mutation 'IGL02378:Slc24a3'
ID 291218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc24a3
Ensembl Gene ENSMUSG00000063873
Gene Name solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
Synonyms NCKX3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL02378
Quality Score
Status
Chromosome 2
Chromosomal Location 145009695-145484086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 145360322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 141 (R141C)
Ref Sequence ENSEMBL: ENSMUSP00000105634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
AlphaFold Q99PD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000081121
AA Change: R91C

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: R91C

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 possibly damaging
Transcript: ENSMUST00000110007
AA Change: R141C

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: R141C

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,080,424 (GRCm39) T414I probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acer2 A T 4: 86,804,491 (GRCm39) T69S probably benign Het
Adcy2 A G 13: 68,878,411 (GRCm39) V409A probably damaging Het
Anks3 T A 16: 4,768,626 (GRCm39) Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,584 (GRCm39) H253Y possibly damaging Het
Asb18 A T 1: 89,920,710 (GRCm39) L189Q probably damaging Het
C3 T C 17: 57,519,698 (GRCm39) R1185G probably benign Het
Cdca7l T A 12: 117,835,862 (GRCm39) V66E possibly damaging Het
Cdrt4 G T 11: 62,883,534 (GRCm39) E79* probably null Het
Cep57 A C 9: 13,732,842 (GRCm39) Y34* probably null Het
Cep63 A T 9: 102,473,314 (GRCm39) probably benign Het
Clip4 T A 17: 72,144,721 (GRCm39) I516K possibly damaging Het
Dnah10 A G 5: 124,850,131 (GRCm39) E1551G probably damaging Het
Dysf T C 6: 84,088,887 (GRCm39) I843T probably damaging Het
Gabra1 C A 11: 42,031,082 (GRCm39) V283F probably damaging Het
Hcfc2 T C 10: 82,544,905 (GRCm39) I179T possibly damaging Het
Htr2c G A X: 145,976,755 (GRCm39) probably benign Het
Irgc G A 7: 24,131,500 (GRCm39) T439I probably benign Het
Itgae T A 11: 73,008,947 (GRCm39) L476H probably benign Het
Jarid2 A C 13: 45,067,801 (GRCm39) K1070T probably damaging Het
Lama2 A G 10: 26,919,652 (GRCm39) I2193T probably damaging Het
Med19 A G 2: 84,515,625 (GRCm39) E103G probably damaging Het
Nav1 C T 1: 135,397,716 (GRCm39) D818N probably benign Het
Nom1 G T 5: 29,656,124 (GRCm39) E830* probably null Het
Or10g9b T G 9: 39,917,769 (GRCm39) T159P probably damaging Het
Or5b98 A C 19: 12,931,747 (GRCm39) S265R probably benign Het
Orai3 G T 7: 127,369,333 (GRCm39) R58L probably damaging Het
Osbpl8 T A 10: 111,118,006 (GRCm39) M583K possibly damaging Het
Pik3cb A T 9: 98,944,893 (GRCm39) M624K probably benign Het
Rars2 G A 4: 34,656,199 (GRCm39) R451H possibly damaging Het
Rgs22 A G 15: 36,103,951 (GRCm39) L170P probably benign Het
Rps6kl1 C A 12: 85,185,448 (GRCm39) D417Y probably damaging Het
Senp6 A G 9: 80,033,674 (GRCm39) D106G probably damaging Het
Setx C T 2: 29,063,738 (GRCm39) probably benign Het
Sfswap T A 5: 129,616,668 (GRCm39) Y371N probably damaging Het
Sorcs1 C T 19: 50,171,109 (GRCm39) W926* probably null Het
Steap4 A G 5: 8,026,741 (GRCm39) T235A probably benign Het
Tead2 T A 7: 44,867,571 (GRCm39) probably null Het
Tll1 A T 8: 64,470,660 (GRCm39) L921* probably null Het
Tnfrsf19 T A 14: 61,208,451 (GRCm39) T357S probably benign Het
Tnik C A 3: 28,692,608 (GRCm39) S825* probably null Het
Vil1 T A 1: 74,469,850 (GRCm39) probably null Het
Vmn2r106 T C 17: 20,497,791 (GRCm39) K483E probably damaging Het
Vwa5a G A 9: 38,645,266 (GRCm39) M450I probably benign Het
Xirp2 C T 2: 67,344,112 (GRCm39) P2118S probably benign Het
Other mutations in Slc24a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc24a3 APN 2 145,458,634 (GRCm39) critical splice donor site probably null
IGL01327:Slc24a3 APN 2 145,444,478 (GRCm39) missense probably benign
IGL01413:Slc24a3 APN 2 145,482,169 (GRCm39) missense probably damaging 1.00
IGL01418:Slc24a3 APN 2 145,482,169 (GRCm39) missense probably damaging 1.00
IGL01468:Slc24a3 APN 2 145,455,500 (GRCm39) missense probably benign 0.16
IGL01629:Slc24a3 APN 2 145,482,130 (GRCm39) splice site probably benign
IGL01973:Slc24a3 APN 2 145,086,947 (GRCm39) missense probably benign 0.01
IGL02021:Slc24a3 APN 2 145,360,836 (GRCm39) missense probably damaging 1.00
R0242:Slc24a3 UTSW 2 145,448,584 (GRCm39) missense probably benign 0.02
R0242:Slc24a3 UTSW 2 145,448,584 (GRCm39) missense probably benign 0.02
R0685:Slc24a3 UTSW 2 145,448,715 (GRCm39) missense probably benign 0.00
R0827:Slc24a3 UTSW 2 145,360,412 (GRCm39) splice site probably benign
R1669:Slc24a3 UTSW 2 145,455,512 (GRCm39) missense probably damaging 1.00
R2698:Slc24a3 UTSW 2 145,455,487 (GRCm39) missense probably benign 0.01
R3796:Slc24a3 UTSW 2 145,458,601 (GRCm39) missense probably damaging 1.00
R4073:Slc24a3 UTSW 2 145,455,636 (GRCm39) intron probably benign
R4386:Slc24a3 UTSW 2 145,448,746 (GRCm39) missense probably benign 0.00
R5125:Slc24a3 UTSW 2 145,360,767 (GRCm39) missense possibly damaging 0.95
R5169:Slc24a3 UTSW 2 145,482,184 (GRCm39) missense probably benign 0.18
R5248:Slc24a3 UTSW 2 145,446,437 (GRCm39) missense probably benign 0.40
R5394:Slc24a3 UTSW 2 145,455,494 (GRCm39) missense probably benign 0.42
R5549:Slc24a3 UTSW 2 145,448,784 (GRCm39) missense probably damaging 1.00
R6476:Slc24a3 UTSW 2 145,448,750 (GRCm39) missense probably benign
R6777:Slc24a3 UTSW 2 145,482,202 (GRCm39) missense probably damaging 1.00
R6814:Slc24a3 UTSW 2 145,458,630 (GRCm39) nonsense probably null
R7163:Slc24a3 UTSW 2 145,086,911 (GRCm39) missense probably benign
R7446:Slc24a3 UTSW 2 145,422,902 (GRCm39) missense probably damaging 1.00
R7525:Slc24a3 UTSW 2 145,455,450 (GRCm39) missense probably benign 0.00
R9573:Slc24a3 UTSW 2 145,455,548 (GRCm39) missense probably damaging 0.99
R9732:Slc24a3 UTSW 2 145,458,591 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16