Incidental Mutation 'IGL02090:Slc24a5'
ID |
279429 |
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 # |
IGL02090
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124910218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 40
(T40S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070353]
|
AlphaFold |
Q8C261 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070353
AA Change: T40S
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000063887 Gene: ENSMUSG00000035183 AA Change: T40S
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
Blnk |
A |
G |
19: 40,922,929 (GRCm39) |
V396A |
probably benign |
Het |
Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,373,336 (GRCm39) |
|
probably benign |
Het |
Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
Gigyf1 |
G |
A |
5: 137,523,826 (GRCm39) |
|
probably null |
Het |
Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,021,121 (GRCm39) |
|
probably null |
Het |
Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
Tlr11 |
A |
G |
14: 50,600,489 (GRCm39) |
D825G |
probably damaging |
Het |
Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
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 |
IGL01926:Slc24a5
|
APN |
2 |
124,910,823 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2015-04-16 |