Incidental Mutation 'IGL03212:Slc24a5'
ID413334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc24a5
Ensembl Gene ENSMUSG00000035183
Gene Namesolute carrier family 24, member 5
SynonymsOca6, NCX5, F630045L20Rik, NCKX5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03212
Quality Score
Status
Chromosome2
Chromosomal Location125068124-125088677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 125080830 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 141 (T141N)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
Predicted Effect probably damaging
Transcript: ENSMUST00000070353
AA Change: T141N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: T141N

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: ENSMUST00000129945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149963
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,202,926 S657P probably benign Het
Atp2c1 T A 9: 105,445,267 N221I probably damaging Het
Atp5h G T 11: 115,415,771 H155N probably damaging Het
Cd55b A T 1: 130,411,442 N316K probably benign Het
Celsr1 A T 15: 85,930,677 M1861K probably benign Het
Cfap69 T G 5: 5,657,849 probably null Het
Col7a1 C A 9: 108,974,452 P2169Q unknown Het
Cyp2j5 G T 4: 96,663,818 H65N probably damaging Het
Dnah5 T C 15: 28,290,163 V1233A probably benign Het
Fn1 A T 1: 71,641,325 L407* probably null Het
Fpr-rs3 T C 17: 20,623,859 D340G probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glmp T C 3: 88,328,357 S317P probably benign Het
Gm15448 T A 7: 3,823,133 Q287L probably benign Het
Gm5581 A T 6: 131,181,450 noncoding transcript Het
Gm5624 A T 14: 44,560,710 N103K probably benign Het
Gprin3 A G 6: 59,355,028 F98S probably benign Het
Ighmbp2 A G 19: 3,279,942 V104A probably damaging Het
Igkv4-79 A C 6: 69,043,230 S34A probably benign Het
Igsf10 G A 3: 59,328,165 P1532S probably benign Het
Myt1l A G 12: 29,827,820 K490R unknown Het
Olfr1176 T A 2: 88,339,672 Y36N probably damaging Het
Plxna1 T A 6: 89,331,903 T1198S probably damaging Het
Pramel6 A G 2: 87,510,425 D367G probably damaging Het
Rbm28 G T 6: 29,131,275 R10S probably damaging Het
Rdh10 T G 1: 16,107,827 C108G probably benign Het
Rfx7 C A 9: 72,619,161 T1211K probably benign Het
Smarca5 T A 8: 80,711,781 N642I possibly damaging Het
Smchd1 C A 17: 71,443,891 R344L probably damaging Het
Tmx3 T A 18: 90,538,518 I355N probably damaging Het
Tram1l1 G A 3: 124,321,914 G241D possibly damaging Het
Ubr4 A G 4: 139,409,763 T982A probably benign Het
Vmn2r52 T G 7: 10,159,547 H555P possibly damaging Het
Zbtb43 A T 2: 33,454,274 M313K probably benign Het
Zfp942 A T 17: 21,929,464 Y61* probably null Het
Other mutations in Slc24a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Slc24a5 APN 2 125080889 missense probably damaging 1.00
IGL01307:Slc24a5 APN 2 125080880 missense probably damaging 1.00
IGL01926:Slc24a5 APN 2 125068903 missense probably benign 0.01
IGL02090:Slc24a5 APN 2 125068298 missense probably benign 0.25
IGL02313:Slc24a5 APN 2 125085647 unclassified probably benign
IGL02328:Slc24a5 APN 2 125080639 missense probably damaging 1.00
IGL02743:Slc24a5 APN 2 125088234 missense probably damaging 1.00
IGL02969:Slc24a5 APN 2 125083227 missense probably damaging 1.00
IGL03258:Slc24a5 APN 2 125080705 critical splice donor site probably null
R0344:Slc24a5 UTSW 2 125085701 missense probably benign 0.03
R0811:Slc24a5 UTSW 2 125068804 missense probably damaging 0.98
R0812:Slc24a5 UTSW 2 125068804 missense probably damaging 0.98
R1018:Slc24a5 UTSW 2 125068907 missense probably damaging 1.00
R1574:Slc24a5 UTSW 2 125080862 missense probably damaging 0.96
R1574:Slc24a5 UTSW 2 125080862 missense probably damaging 0.96
R1753:Slc24a5 UTSW 2 125083195 missense possibly damaging 0.53
R2147:Slc24a5 UTSW 2 125087441 missense probably damaging 1.00
R4934:Slc24a5 UTSW 2 125088020 missense probably damaging 1.00
R4964:Slc24a5 UTSW 2 125068268 missense probably benign 0.20
R4966:Slc24a5 UTSW 2 125068268 missense probably benign 0.20
R5225:Slc24a5 UTSW 2 125085819 missense probably damaging 0.99
R5275:Slc24a5 UTSW 2 125085861 missense probably benign 0.09
R5438:Slc24a5 UTSW 2 125068865 missense probably damaging 1.00
R5866:Slc24a5 UTSW 2 125085671 missense probably damaging 1.00
R6038:Slc24a5 UTSW 2 125085731 missense probably benign 0.04
R6038:Slc24a5 UTSW 2 125085731 missense probably benign 0.04
R6114:Slc24a5 UTSW 2 125083092 missense probably benign 0.01
R6211:Slc24a5 UTSW 2 125088251 missense probably benign 0.23
R6516:Slc24a5 UTSW 2 125088107 missense probably benign 0.01
R6675:Slc24a5 UTSW 2 125080695 missense possibly damaging 0.82
R6677:Slc24a5 UTSW 2 125080695 missense possibly damaging 0.82
R6826:Slc24a5 UTSW 2 125068858 missense probably benign 0.00
R7100:Slc24a5 UTSW 2 125080671 missense probably damaging 1.00
R7122:Slc24a5 UTSW 2 125088191 missense probably benign 0.15
R7381:Slc24a5 UTSW 2 125068949 missense probably benign 0.29
R7398:Slc24a5 UTSW 2 125085774 nonsense probably null
R7401:Slc24a5 UTSW 2 125088191 missense probably benign 0.15
X0067:Slc24a5 UTSW 2 125087503 missense possibly damaging 0.95
Posted On2016-08-02