Incidental Mutation 'IGL01629:Slc24a3'
| ID |
92880 |
| 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 # |
IGL01629
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 145482130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081121]
[ENSMUST00000110007]
|
| AlphaFold |
Q99PD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081121
|
| SMART Domains |
Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
| 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
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Adm2 |
T |
A |
15: 89,207,605 (GRCm39) |
|
probably null |
Het |
| Alox12 |
G |
A |
11: 70,133,660 (GRCm39) |
P555S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,433,113 (GRCm39) |
S1798P |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,714,136 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
A |
8: 3,431,942 (GRCm39) |
C168S |
possibly damaging |
Het |
| Atxn7l3 |
A |
T |
11: 102,183,320 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,779,663 (GRCm39) |
K707E |
possibly damaging |
Het |
| Cdc5l |
G |
T |
17: 45,724,116 (GRCm39) |
D391E |
probably benign |
Het |
| Cmtm2b |
T |
C |
8: 105,056,420 (GRCm39) |
S110P |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,387,840 (GRCm39) |
D207G |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,225,855 (GRCm39) |
F501L |
possibly damaging |
Het |
| Dnaaf6rt |
T |
A |
1: 31,262,014 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,014,277 (GRCm39) |
V1823M |
probably damaging |
Het |
| Gjb4 |
T |
C |
4: 127,245,419 (GRCm39) |
D174G |
possibly damaging |
Het |
| Gm45213 |
A |
G |
7: 65,711,962 (GRCm39) |
D58G |
probably damaging |
Het |
| Hes1 |
C |
T |
16: 29,884,976 (GRCm39) |
|
probably benign |
Het |
| Krt33b |
T |
A |
11: 99,920,386 (GRCm39) |
Q89L |
probably benign |
Het |
| Llcfc1 |
C |
A |
6: 41,661,459 (GRCm39) |
S3Y |
possibly damaging |
Het |
| Ltf |
A |
G |
9: 110,864,874 (GRCm39) |
N569S |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,732,731 (GRCm39) |
W320R |
probably damaging |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,353 (GRCm39) |
K213* |
probably null |
Het |
| Mslnl |
T |
G |
17: 25,963,749 (GRCm39) |
V388G |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,228 (GRCm39) |
I566V |
probably benign |
Het |
| Npy1r |
G |
A |
8: 67,156,873 (GRCm39) |
V98I |
probably benign |
Het |
| Phf1 |
G |
T |
17: 27,153,247 (GRCm39) |
A22S |
probably benign |
Het |
| Plcg1 |
T |
G |
2: 160,599,930 (GRCm39) |
F897V |
possibly damaging |
Het |
| Ric1 |
A |
T |
19: 29,581,381 (GRCm39) |
E1367D |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,968,565 (GRCm39) |
|
probably null |
Het |
| Speer4a2 |
C |
T |
5: 26,290,700 (GRCm39) |
S157N |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,129,677 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,051,377 (GRCm39) |
I4036V |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,429,030 (GRCm39) |
M890K |
possibly damaging |
Het |
| Tenm2 |
A |
T |
11: 36,755,711 (GRCm39) |
Y96N |
probably damaging |
Het |
| Ttll10 |
T |
A |
4: 156,131,351 (GRCm39) |
T233S |
probably benign |
Het |
| Vps39 |
G |
T |
2: 120,154,079 (GRCm39) |
L628M |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,600 (GRCm39) |
R105H |
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 |
|
IGL01468:Slc24a3
|
APN |
2 |
145,455,500 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
2013-12-09 |
Incidental Mutation