Incidental Mutation 'IGL03258:Slc24a5'
ID414741
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 #IGL03258
Quality Score
Status
Chromosome2
Chromosomal Location125068124-125088677 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 125080705 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
Predicted Effect probably null
Transcript: ENSMUST00000070353
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,137,561 probably benign Het
Adam1b A G 5: 121,501,384 S533P possibly damaging Het
Akr1c6 G T 13: 4,436,409 G72C probably damaging Het
Carf C T 1: 60,109,229 T28I possibly damaging Het
Cog1 G A 11: 113,655,093 W398* probably null Het
Dmpk A G 7: 19,092,206 probably null Het
Dmxl1 T C 18: 49,920,893 V2534A probably damaging Het
Fam78b A T 1: 167,078,754 T161S probably damaging Het
Fgd6 A T 10: 94,133,353 T1161S probably benign Het
Gpr158 A T 2: 21,825,274 D710V probably damaging Het
H2-Q4 A G 17: 35,380,119 I122V probably benign Het
Ifi211 A T 1: 173,905,532 C188S probably benign Het
Lamc3 A C 2: 31,887,683 S114R probably damaging Het
Lrrc57 C T 2: 120,605,222 A239T probably damaging Het
Mdga1 A G 17: 29,839,913 Y707H probably damaging Het
Ms4a6b T G 19: 11,521,708 L62R probably damaging Het
Mtmr4 A T 11: 87,612,003 H961L possibly damaging Het
Myrip A G 9: 120,441,352 N556S probably benign Het
Osgep T C 14: 50,917,889 T71A possibly damaging Het
Plin4 T C 17: 56,104,371 T887A probably benign Het
Pwwp2a T A 11: 43,704,565 F186I probably benign Het
Serpina1b G T 12: 103,730,396 S251R probably benign Het
Setd7 T C 3: 51,560,515 probably null Het
Slc25a17 A G 15: 81,329,042 probably benign Het
Slc5a4a T C 10: 76,150,552 V98A possibly damaging Het
Susd1 A T 4: 59,379,655 I324N possibly damaging Het
Tcaf3 A G 6: 42,589,839 L772P probably damaging 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
IGL03212:Slc24a5 APN 2 125080830 missense probably damaging 1.00
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 not run
R7122:Slc24a5 UTSW 2 125088191 missense not run
X0067:Slc24a5 UTSW 2 125087503 missense possibly damaging 0.95
Posted On2016-08-02