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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |