Incidental Mutation 'IGL02021:Slc24a3'
| ID |
183952 |
| 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: 0.174)
|
| Stock # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145360836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 193
(I193N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081121]
[ENSMUST00000110007]
|
| AlphaFold |
Q99PD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081121
AA Change: I143N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: I143N
| 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 damaging
Transcript: ENSMUST00000110007
AA Change: I193N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: I193N
| 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: ENSMUST00000137908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153249
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
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 |
|
IGL01468:Slc24a3
|
APN |
2 |
145,455,500 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation