Incidental Mutation 'IGL03212:Slc24a5'
| ID |
413334 |
| 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 # |
IGL03212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124922750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 141
(T141N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070353]
|
| AlphaFold |
Q8C261 |
| 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
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,242,085 (GRCm39) |
S657P |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,322,466 (GRCm39) |
N221I |
probably damaging |
Het |
| Atp5pd |
G |
T |
11: 115,306,597 (GRCm39) |
H155N |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,339,179 (GRCm39) |
N316K |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,814,878 (GRCm39) |
M1861K |
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,707,849 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,803,520 (GRCm39) |
P2169Q |
unknown |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,055 (GRCm39) |
H65N |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,290,309 (GRCm39) |
V1233A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,680,484 (GRCm39) |
L407* |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,121 (GRCm39) |
D340G |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glmp |
T |
C |
3: 88,235,664 (GRCm39) |
S317P |
probably benign |
Het |
| Gm5581 |
A |
T |
6: 131,158,413 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5624 |
A |
T |
14: 44,798,167 (GRCm39) |
N103K |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,332,013 (GRCm39) |
F98S |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,942 (GRCm39) |
V104A |
probably damaging |
Het |
| Igkv4-79 |
A |
C |
6: 69,020,214 (GRCm39) |
S34A |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,235,586 (GRCm39) |
P1532S |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,877,819 (GRCm39) |
K490R |
unknown |
Het |
| Or5d46 |
T |
A |
2: 88,170,016 (GRCm39) |
Y36N |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,826,132 (GRCm39) |
Q287L |
probably benign |
Het |
| Plxna1 |
T |
A |
6: 89,308,885 (GRCm39) |
T1198S |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,340,769 (GRCm39) |
D367G |
probably damaging |
Het |
| Rbm28 |
G |
T |
6: 29,131,274 (GRCm39) |
R10S |
probably damaging |
Het |
| Rdh10 |
T |
G |
1: 16,178,051 (GRCm39) |
C108G |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,526,443 (GRCm39) |
T1211K |
probably benign |
Het |
| Smarca5 |
T |
A |
8: 81,438,410 (GRCm39) |
N642I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,750,886 (GRCm39) |
R344L |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,556,642 (GRCm39) |
I355N |
probably damaging |
Het |
| Tram1l1 |
G |
A |
3: 124,115,563 (GRCm39) |
G241D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,074 (GRCm39) |
T982A |
probably benign |
Het |
| Vmn2r52 |
T |
G |
7: 9,893,474 (GRCm39) |
H555P |
possibly damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,286 (GRCm39) |
M313K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,445 (GRCm39) |
Y61* |
probably null |
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 |
|
IGL01926:Slc24a5
|
APN |
2 |
124,910,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation