Incidental Mutation 'IGL01926:Slc24a5'
ID 180296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc24a5
Ensembl Gene ENSMUSG00000035183
Gene Name solute carrier family 24, member 5
Synonyms Oca6, F630045L20Rik, NCX5, NCKX5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01926
Quality Score
Status
Chromosome 2
Chromosomal Location 124910076-124930316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124910823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 85 (I85V)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
AlphaFold Q8C261
Predicted Effect probably benign
Transcript: ENSMUST00000070353
AA Change: I85V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: I85V

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Na_Ca_ex 72 216 1.1e-24 PFAM
low complexity region 274 290 N/A INTRINSIC
low complexity region 311 324 N/A INTRINSIC
Pfam:Na_Ca_ex 334 485 7.6e-31 PFAM
low complexity region 488 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139615
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 is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,026,155 (GRCm39) probably benign Het
Ano1 C T 7: 144,164,612 (GRCm39) V671M possibly damaging Het
Atf7ip2 G T 16: 10,059,749 (GRCm39) D430Y probably damaging Het
Atp7b A T 8: 22,501,797 (GRCm39) D740E probably damaging Het
Bbs1 A C 19: 4,952,891 (GRCm39) S191A probably benign Het
Capn5 C T 7: 97,777,679 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,791,099 (GRCm39) I244T probably benign Het
Dsg1a G T 18: 20,466,641 (GRCm39) D504Y possibly damaging Het
Eif3a T C 19: 60,758,399 (GRCm39) D793G unknown Het
Exoc4 C A 6: 33,839,077 (GRCm39) D704E probably damaging Het
Fmo5 A C 3: 97,544,797 (GRCm39) T109P probably damaging Het
Ggt5 A G 10: 75,439,935 (GRCm39) I179V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Irs1 G T 1: 82,267,680 (GRCm39) R179S probably damaging Het
Jmy A T 13: 93,596,294 (GRCm39) V445E probably damaging Het
Jup C A 11: 100,274,412 (GRCm39) V93F probably benign Het
Krt20 T C 11: 99,328,652 (GRCm39) Y91C probably damaging Het
Mug2 T A 6: 122,013,063 (GRCm39) probably benign Het
Mybpc3 C T 2: 90,965,752 (GRCm39) T1188I possibly damaging Het
Myt1 T C 2: 181,463,790 (GRCm39) L1032P probably benign Het
Naip6 A T 13: 100,436,704 (GRCm39) N606K probably damaging Het
Nfrkb A T 9: 31,325,475 (GRCm39) M973L probably benign Het
Or5aq6 C T 2: 86,923,318 (GRCm39) C141Y probably damaging Het
Or5b120 A T 19: 13,480,105 (GRCm39) T133S possibly damaging Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Plekha5 T A 6: 140,471,642 (GRCm39) M131K probably benign Het
Pomt1 T A 2: 32,133,484 (GRCm39) S207T probably benign Het
Prlr T A 15: 10,314,306 (GRCm39) M1K probably null Het
Prr15 A G 6: 54,306,490 (GRCm39) K83E probably damaging Het
Rnf4 A G 5: 34,504,123 (GRCm39) N5S probably benign Het
Sel1l3 T A 5: 53,357,485 (GRCm39) H169L probably benign Het
Tmc2 T C 2: 130,102,160 (GRCm39) I775T possibly damaging Het
Trnau1ap A T 4: 132,046,873 (GRCm39) F141L probably benign Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Zswim9 A T 7: 12,994,248 (GRCm39) V636D possibly damaging Het
Other mutations in Slc24a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Slc24a5 APN 2 124,922,809 (GRCm39) missense probably damaging 1.00
IGL01307:Slc24a5 APN 2 124,922,800 (GRCm39) missense probably damaging 1.00
IGL02090:Slc24a5 APN 2 124,910,218 (GRCm39) missense probably benign 0.25
IGL02313:Slc24a5 APN 2 124,927,567 (GRCm39) unclassified probably benign
IGL02328:Slc24a5 APN 2 124,922,559 (GRCm39) missense probably damaging 1.00
IGL02743:Slc24a5 APN 2 124,930,154 (GRCm39) missense probably damaging 1.00
IGL02969:Slc24a5 APN 2 124,925,147 (GRCm39) missense probably damaging 1.00
IGL03212:Slc24a5 APN 2 124,922,750 (GRCm39) missense probably damaging 1.00
IGL03258:Slc24a5 APN 2 124,922,625 (GRCm39) critical splice donor site probably null
Scarce UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
R0344:Slc24a5 UTSW 2 124,927,621 (GRCm39) missense probably benign 0.03
R0811:Slc24a5 UTSW 2 124,910,724 (GRCm39) missense probably damaging 0.98
R0812:Slc24a5 UTSW 2 124,910,724 (GRCm39) missense probably damaging 0.98
R1018:Slc24a5 UTSW 2 124,910,827 (GRCm39) missense probably damaging 1.00
R1574:Slc24a5 UTSW 2 124,922,782 (GRCm39) missense probably damaging 0.96
R1574:Slc24a5 UTSW 2 124,922,782 (GRCm39) missense probably damaging 0.96
R1753:Slc24a5 UTSW 2 124,925,115 (GRCm39) missense possibly damaging 0.53
R2147:Slc24a5 UTSW 2 124,929,361 (GRCm39) missense probably damaging 1.00
R4934:Slc24a5 UTSW 2 124,929,940 (GRCm39) missense probably damaging 1.00
R4964:Slc24a5 UTSW 2 124,910,188 (GRCm39) missense probably benign 0.20
R4966:Slc24a5 UTSW 2 124,910,188 (GRCm39) missense probably benign 0.20
R5225:Slc24a5 UTSW 2 124,927,739 (GRCm39) missense probably damaging 0.99
R5275:Slc24a5 UTSW 2 124,927,781 (GRCm39) missense probably benign 0.09
R5438:Slc24a5 UTSW 2 124,910,785 (GRCm39) missense probably damaging 1.00
R5866:Slc24a5 UTSW 2 124,927,591 (GRCm39) missense probably damaging 1.00
R6038:Slc24a5 UTSW 2 124,927,651 (GRCm39) missense probably benign 0.04
R6038:Slc24a5 UTSW 2 124,927,651 (GRCm39) missense probably benign 0.04
R6114:Slc24a5 UTSW 2 124,925,012 (GRCm39) missense probably benign 0.01
R6211:Slc24a5 UTSW 2 124,930,171 (GRCm39) missense probably benign 0.23
R6516:Slc24a5 UTSW 2 124,930,027 (GRCm39) missense probably benign 0.01
R6675:Slc24a5 UTSW 2 124,922,615 (GRCm39) missense possibly damaging 0.82
R6677:Slc24a5 UTSW 2 124,922,615 (GRCm39) missense possibly damaging 0.82
R6826:Slc24a5 UTSW 2 124,910,778 (GRCm39) missense probably benign 0.00
R7100:Slc24a5 UTSW 2 124,922,591 (GRCm39) missense probably damaging 1.00
R7122:Slc24a5 UTSW 2 124,930,111 (GRCm39) missense probably benign 0.15
R7381:Slc24a5 UTSW 2 124,910,869 (GRCm39) missense probably benign 0.29
R7398:Slc24a5 UTSW 2 124,927,694 (GRCm39) nonsense probably null
R7401:Slc24a5 UTSW 2 124,930,111 (GRCm39) missense probably benign 0.15
R8219:Slc24a5 UTSW 2 124,927,575 (GRCm39) critical splice acceptor site probably null
R9227:Slc24a5 UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
R9230:Slc24a5 UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
X0067:Slc24a5 UTSW 2 124,929,423 (GRCm39) missense possibly damaging 0.95
Posted On 2014-05-07