Incidental Mutation 'IGL01327:Slc24a3'
ID 74329
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 # IGL01327
Quality Score
Status
Chromosome 2
Chromosomal Location 145009695-145484086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145444478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 284 (I284N)
Ref Sequence ENSEMBL: ENSMUSP00000105634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
AlphaFold Q99PD7
Predicted Effect probably benign
Transcript: ENSMUST00000081121
AA Change: I234N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: I234N

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: I284N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: I284N

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: ENSMUST00000131123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137908
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
2510039O18Rik T A 4: 148,029,521 (GRCm39) V497E probably damaging Het
Adcy7 T G 8: 89,045,418 (GRCm39) probably benign Het
Aldh1a2 T A 9: 71,193,248 (GRCm39) F486I possibly damaging Het
Alox12 T A 11: 70,145,375 (GRCm39) H66L probably benign Het
Apoh T G 11: 108,288,187 (GRCm39) Y102D probably damaging Het
Arl9 T C 5: 77,154,401 (GRCm39) V43A possibly damaging Het
Atf6 A G 1: 170,616,175 (GRCm39) probably null Het
Atp4a T A 7: 30,412,675 (GRCm39) I127N possibly damaging Het
AY358078 T A 14: 52,043,166 (GRCm39) probably benign Het
Baat T G 4: 49,490,338 (GRCm39) K249Q probably damaging Het
Brat1 C T 5: 140,703,963 (GRCm39) Q739* probably null Het
C8g A G 2: 25,389,089 (GRCm39) F165L probably damaging Het
Cel T G 2: 28,447,967 (GRCm39) D353A possibly damaging Het
Col6a1 G T 10: 76,546,813 (GRCm39) T803K unknown Het
Cpxm1 A G 2: 130,238,277 (GRCm39) L95P probably benign Het
Ctsr A G 13: 61,310,489 (GRCm39) probably benign Het
Cyth1 A G 11: 118,084,439 (GRCm39) probably null Het
Dync1h1 A T 12: 110,583,126 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,262 (GRCm39) C407Y probably damaging Het
Fam243 T C 16: 92,117,661 (GRCm39) Y209C probably benign Het
Gm3696 A T 14: 18,435,903 (GRCm39) W38R probably benign Het
Gm9611 T C 14: 42,116,622 (GRCm39) T39A possibly damaging Het
Gnpat T A 8: 125,605,372 (GRCm39) L287H probably damaging Het
Golm1 G T 13: 59,792,958 (GRCm39) N182K possibly damaging Het
Hdac6 T C X: 7,798,013 (GRCm39) M899V probably benign Het
Hsf3 T A X: 95,358,578 (GRCm39) M272L probably benign Het
Kif19a C T 11: 114,672,625 (GRCm39) probably benign Het
Lcn2 T G 2: 32,276,030 (GRCm39) Y100S possibly damaging Het
Lrrc8d T A 5: 105,960,131 (GRCm39) S180R probably damaging Het
Ly6h A G 15: 75,436,948 (GRCm39) probably benign Het
Macf1 T C 4: 123,403,705 (GRCm39) N705D probably benign Het
Mst1r C T 9: 107,785,043 (GRCm39) P234S probably benign Het
Msto1 T A 3: 88,817,939 (GRCm39) probably null Het
Myo5a T A 9: 75,094,820 (GRCm39) probably benign Het
Nipa1 T C 7: 55,629,409 (GRCm39) I235V probably benign Het
Nlgn3 T C X: 100,362,228 (GRCm39) V399A probably benign Het
Or1d2 T A 11: 74,255,738 (GRCm39) M81K possibly damaging Het
Or2b28 A G 13: 21,531,377 (GRCm39) N93S probably benign Het
Pih1d1 T C 7: 44,809,399 (GRCm39) S289P probably benign Het
Ppl T C 16: 4,905,508 (GRCm39) N1596D probably benign Het
Psmb6 T A 11: 70,417,412 (GRCm39) S114R possibly damaging Het
Pum1 C A 4: 130,457,854 (GRCm39) Q289K probably damaging Het
Shkbp1 T C 7: 27,054,676 (GRCm39) I75V probably benign Het
Slc44a3 C T 3: 121,320,842 (GRCm39) G53D probably damaging Het
Slc9a4 A C 1: 40,668,565 (GRCm39) D736A probably benign Het
Stra6 A G 9: 58,059,854 (GRCm39) D605G probably benign Het
Tas2r126 T A 6: 42,411,684 (GRCm39) H72Q probably benign Het
Tbrg1 C T 9: 37,564,408 (GRCm39) R166Q probably benign Het
Thumpd1 C T 7: 119,319,925 (GRCm39) G14R probably benign Het
Ticrr C T 7: 79,344,209 (GRCm39) T1358I probably benign Het
Tmtc2 A T 10: 105,184,340 (GRCm39) N518K probably benign Het
Trpm4 C A 7: 44,964,497 (GRCm39) W533C probably damaging Het
Tsen54 T C 11: 115,712,538 (GRCm39) Y119H possibly damaging Het
Tulp3 G A 6: 128,304,597 (GRCm39) T219M probably damaging Het
Usp19 T C 9: 108,376,160 (GRCm39) L1000S possibly damaging Het
Vps16 A T 2: 130,279,616 (GRCm39) Y43F probably benign Het
Vsig1 T A X: 139,838,429 (GRCm39) V283E possibly damaging Het
Other mutations in Slc24a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc24a3 APN 2 145,458,634 (GRCm39) critical splice donor site probably null
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
IGL02378:Slc24a3 APN 2 145,360,322 (GRCm39) missense possibly damaging 0.78
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 2013-10-07