Incidental Mutation 'IGL02328:Slc24a5'
ID288554
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 #IGL02328
Quality Score
Status
Chromosome2
Chromosomal Location125068124-125088677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125080639 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
Predicted Effect probably damaging
Transcript: ENSMUST00000070353
AA Change: D107G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: D107G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,578,175 N577I probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
Btk G A X: 134,558,700 P192L probably damaging Het
Col12a1 T A 9: 79,682,066 Y1069F probably damaging Het
Dnah7a C T 1: 53,524,937 probably null Het
E230025N22Rik A G 18: 36,695,614 S4P probably damaging Het
Ei24 A T 9: 36,785,531 probably null Het
Foxred2 A G 15: 77,955,832 L86P probably damaging Het
Gm3127 A T 14: 4,165,216 R42W probably damaging Het
Hgf A G 5: 16,598,221 Y377C probably damaging Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Iqcg T G 16: 33,019,506 I357L probably benign Het
Itsn1 T C 16: 91,815,407 L204P probably damaging Het
Kalrn T C 16: 34,332,224 N311S probably damaging Het
Lmod2 A G 6: 24,603,833 D269G probably benign Het
Med16 A G 10: 79,907,542 S29P probably damaging Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Myo15 A G 11: 60,526,607 I3443V probably benign Het
Naip2 A T 13: 100,161,369 L720I probably damaging Het
Olfr1427 T A 19: 12,098,782 I286F probably damaging Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
Olfr599 A T 7: 103,338,290 I79F probably damaging Het
Olfr806 T C 10: 129,738,026 D297G probably benign Het
Olfr904 A T 9: 38,464,676 I212F probably benign Het
Pan3 A G 5: 147,530,123 probably null Het
Pitpnm2 T C 5: 124,121,414 Q1286R probably damaging Het
Scgb2b24 A G 7: 33,738,625 probably benign Het
Sh2b3 T C 5: 121,817,859 D520G probably benign Het
Skint4 T A 4: 112,120,058 I215N possibly damaging Het
Slit2 T C 5: 48,230,304 I549T probably damaging Het
Stambp A G 6: 83,556,381 L300P possibly damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tm9sf2 T G 14: 122,143,430 V145G possibly damaging Het
Tor1aip2 G T 1: 156,064,974 C342F probably damaging Het
Ubr4 C T 4: 139,478,922 T4823M probably damaging Het
Vmn1r80 G T 7: 12,193,478 A172S probably benign Het
Vmn2r67 T A 7: 85,150,690 N447Y probably benign Het
Zbtb1 A G 12: 76,386,676 N479D possibly 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
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
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 On2015-04-16