Incidental Mutation 'IGL02378:Slc24a3'
ID |
291218 |
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 # |
IGL02378
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145360322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 141
(R141C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105634
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081121]
[ENSMUST00000110007]
|
AlphaFold |
Q99PD7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081121
AA Change: R91C
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000079897 Gene: ENSMUSG00000063873 AA Change: R91C
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 |
possibly damaging
Transcript: ENSMUST00000110007
AA Change: R141C
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105634 Gene: ENSMUSG00000063873 AA Change: R141C
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
Arhgap42 |
G |
A |
9: 9,035,584 (GRCm39) |
H253Y |
possibly damaging |
Het |
Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
Gabra1 |
C |
A |
11: 42,031,082 (GRCm39) |
V283F |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,544,905 (GRCm39) |
I179T |
possibly damaging |
Het |
Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,118,006 (GRCm39) |
M583K |
possibly damaging |
Het |
Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,645,266 (GRCm39) |
M450I |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
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 |
IGL02021:Slc24a3
|
APN |
2 |
145,360,836 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |