Incidental Mutation 'IGL01468:Slc24a3'
| ID |
88163 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc24a3
|
| Ensembl Gene |
ENSMUSG00000063873 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 |
| Synonyms |
NCKX3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL01468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145455500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 463
(Y463C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081121]
[ENSMUST00000110007]
|
| AlphaFold |
Q99PD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081121
AA Change: Y413C
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: Y413C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Ca_ex
|
72 |
204 |
8.6e-33 |
PFAM |
|
coiled coil region
|
353 |
382 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
437 |
577 |
2.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110007
AA Change: Y463C
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: Y463C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
112 |
255 |
2.6e-32 |
PFAM |
|
coiled coil region
|
403 |
432 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
477 |
629 |
6.1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137908
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
| Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
| Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
| Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
| Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
| Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
| Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
| Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
| Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
| Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably damaging |
Het |
|
| Other mutations in Slc24a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Slc24a3
|
APN |
2 |
145,458,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01327:Slc24a3
|
APN |
2 |
145,444,478 (GRCm39) |
missense |
probably benign |
|
|
IGL01413:Slc24a3
|
APN |
2 |
145,482,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Slc24a3
|
APN |
2 |
145,482,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01629:Slc24a3
|
APN |
2 |
145,482,130 (GRCm39) |
splice site |
probably benign |
|
|
IGL01973:Slc24a3
|
APN |
2 |
145,086,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02021:Slc24a3
|
APN |
2 |
145,360,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Slc24a3
|
APN |
2 |
145,360,322 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0242:Slc24a3
|
UTSW |
2 |
145,448,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0242:Slc24a3
|
UTSW |
2 |
145,448,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0685:Slc24a3
|
UTSW |
2 |
145,448,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0827:Slc24a3
|
UTSW |
2 |
145,360,412 (GRCm39) |
splice site |
probably benign |
|
|
R1669:Slc24a3
|
UTSW |
2 |
145,455,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Slc24a3
|
UTSW |
2 |
145,455,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3796:Slc24a3
|
UTSW |
2 |
145,458,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Slc24a3
|
UTSW |
2 |
145,455,636 (GRCm39) |
intron |
probably benign |
|
|
R4386:Slc24a3
|
UTSW |
2 |
145,448,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Slc24a3
|
UTSW |
2 |
145,360,767 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5169:Slc24a3
|
UTSW |
2 |
145,482,184 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5248:Slc24a3
|
UTSW |
2 |
145,446,437 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5394:Slc24a3
|
UTSW |
2 |
145,455,494 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5549:Slc24a3
|
UTSW |
2 |
145,448,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Slc24a3
|
UTSW |
2 |
145,448,750 (GRCm39) |
missense |
probably benign |
|
|
R6777:Slc24a3
|
UTSW |
2 |
145,482,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Slc24a3
|
UTSW |
2 |
145,458,630 (GRCm39) |
nonsense |
probably null |
|
|
R7163:Slc24a3
|
UTSW |
2 |
145,086,911 (GRCm39) |
missense |
probably benign |
|
|
R7446:Slc24a3
|
UTSW |
2 |
145,422,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Slc24a3
|
UTSW |
2 |
145,455,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Slc24a3
|
UTSW |
2 |
145,455,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9732:Slc24a3
|
UTSW |
2 |
145,458,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation