Incidental Mutation 'R6777:Slc24a3'
| ID |
531328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a3
|
| Ensembl Gene |
ENSMUSG00000063873 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 |
| Synonyms |
NCKX3 |
| MMRRC Submission |
044893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R6777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145482202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 620
(Y620C)
|
| 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: Y570C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: Y570C
| 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: Y620C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: Y620C
| 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 |
|
| Meta Mutation Damage Score |
0.9467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
| Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
| Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
| Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
| Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
| Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
| Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
| Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCAGGGATGTTGCAGG -3'
(R):5'- GATGTTGGATGTCTTCACACGG -3'
Sequencing Primer
(F):5'- ATGTTGCAGGCTCAGGCTCAG -3'
(R):5'- ACGGATGCCTCGGCTGTTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation