Incidental Mutation 'R8192:Slc8a3'
ID |
635247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc8a3
|
Ensembl Gene |
ENSMUSG00000079055 |
Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 3 |
Synonyms |
Ncx3 |
MMRRC Submission |
067615-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8192 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81246455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 866
(V866D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: V865D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
79 |
250 |
1.3e-36 |
PFAM |
Pfam:Na_Ca_ex_C
|
253 |
379 |
4.6e-57 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.04e-40 |
SMART |
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
754 |
919 |
2e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085238
AA Change: V859D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: V859D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
79 |
250 |
1.3e-36 |
PFAM |
Pfam:Na_Ca_ex_C
|
253 |
379 |
4.6e-57 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.54e-43 |
SMART |
low complexity region
|
705 |
716 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
747 |
912 |
1.9e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182208
AA Change: V866D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: V866D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
89 |
248 |
8.1e-38 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.04e-40 |
SMART |
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
764 |
917 |
9.1e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182366
|
SMART Domains |
Protein: ENSMUSP00000138803 Gene: ENSMUSG00000079055
Domain | Start | End | E-Value | Type |
PDB:2LT9|A
|
1 |
52 |
2e-28 |
PDB |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (64/64) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
A |
T |
8: 44,103,970 (GRCm39) |
D558E |
probably damaging |
Het |
Alox15 |
T |
A |
11: 70,241,736 (GRCm39) |
E48D |
probably benign |
Het |
Alyref |
T |
C |
11: 120,488,522 (GRCm39) |
E102G |
probably benign |
Het |
Bach2 |
A |
G |
4: 32,562,294 (GRCm39) |
S254G |
probably benign |
Het |
Bcl2l13 |
A |
G |
6: 120,853,267 (GRCm39) |
E184G |
possibly damaging |
Het |
Best1 |
T |
A |
19: 9,963,664 (GRCm39) |
I506F |
possibly damaging |
Het |
Cd177 |
T |
A |
7: 24,453,727 (GRCm39) |
D388V |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,816,529 (GRCm39) |
K329E |
possibly damaging |
Het |
Clasrp |
T |
C |
7: 19,329,387 (GRCm39) |
N65S |
possibly damaging |
Het |
Cobl |
T |
C |
11: 12,199,745 (GRCm39) |
R1301G |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,849,273 (GRCm39) |
E624G |
probably benign |
Het |
Cyp21a1 |
A |
T |
17: 35,022,633 (GRCm39) |
Y109N |
probably damaging |
Het |
Dbf4 |
A |
G |
5: 8,448,134 (GRCm39) |
S359P |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,431,002 (GRCm39) |
T846A |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 117,976,181 (GRCm39) |
V2746A |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,428,036 (GRCm39) |
A221T |
probably benign |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Dock2 |
A |
G |
11: 34,623,166 (GRCm39) |
|
probably null |
Het |
Dpy19l1 |
T |
C |
9: 24,362,023 (GRCm39) |
I119V |
possibly damaging |
Het |
Dsg1c |
A |
G |
18: 20,399,255 (GRCm39) |
T120A |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,332,145 (GRCm39) |
H397R |
probably benign |
Het |
Gaa |
G |
T |
11: 119,161,235 (GRCm39) |
A93S |
possibly damaging |
Het |
Galnt4 |
G |
A |
10: 98,945,118 (GRCm39) |
R281H |
probably benign |
Het |
Gm3250 |
T |
C |
10: 77,618,291 (GRCm39) |
E29G |
unknown |
Het |
H13 |
T |
G |
2: 152,511,522 (GRCm39) |
D7E |
probably benign |
Het |
H60c |
T |
A |
10: 3,209,781 (GRCm39) |
I140F |
probably benign |
Het |
Hsd3b2 |
T |
C |
3: 98,620,908 (GRCm39) |
N49S |
probably benign |
Het |
Klhl11 |
G |
T |
11: 100,354,922 (GRCm39) |
P300T |
probably benign |
Het |
Knop1 |
C |
A |
7: 118,452,369 (GRCm39) |
V117L |
|
Het |
Lgalsl2 |
T |
A |
7: 5,362,595 (GRCm39) |
D75E |
possibly damaging |
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,334,390 (GRCm39) |
S4456P |
probably damaging |
Het |
Mkrn1 |
A |
T |
6: 39,376,289 (GRCm39) |
V439D |
probably damaging |
Het |
Muc2 |
T |
A |
7: 141,305,215 (GRCm39) |
V612D |
|
Het |
Nrxn3 |
A |
G |
12: 90,171,569 (GRCm39) |
N967D |
probably benign |
Het |
Oprm1 |
C |
T |
10: 6,788,417 (GRCm39) |
P391S |
probably benign |
Het |
Or10g7 |
T |
A |
9: 39,905,467 (GRCm39) |
D120E |
probably damaging |
Het |
Or5d43 |
A |
C |
2: 88,105,288 (GRCm39) |
V35G |
probably damaging |
Het |
Parp14 |
T |
A |
16: 35,691,584 (GRCm39) |
E47V |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,285,554 (GRCm39) |
E931G |
possibly damaging |
Het |
Plcz1 |
A |
T |
6: 139,968,986 (GRCm39) |
C151S |
probably damaging |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Pramel27 |
G |
A |
4: 143,578,109 (GRCm39) |
W123* |
probably null |
Het |
Rbm26 |
A |
G |
14: 105,380,125 (GRCm39) |
|
probably null |
Het |
Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
Sc5d |
T |
C |
9: 42,171,094 (GRCm39) |
I32V |
probably benign |
Het |
Scube1 |
A |
G |
15: 83,513,583 (GRCm39) |
|
probably null |
Het |
Shld2 |
A |
T |
14: 33,967,173 (GRCm39) |
S680T |
probably benign |
Het |
Slc12a6 |
A |
G |
2: 112,181,722 (GRCm39) |
Y714C |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,518,541 (GRCm39) |
I670V |
probably benign |
Het |
Slco3a1 |
A |
T |
7: 73,970,338 (GRCm39) |
M423K |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,349,336 (GRCm39) |
E773G |
probably benign |
Het |
Son |
A |
G |
16: 91,452,437 (GRCm39) |
T395A |
possibly damaging |
Het |
Ss18l1 |
T |
C |
2: 179,701,155 (GRCm39) |
S290P |
probably damaging |
Het |
Tcof1 |
A |
C |
18: 60,976,375 (GRCm39) |
V78G |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,733,918 (GRCm39) |
V322M |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,253,811 (GRCm39) |
C753* |
probably null |
Het |
Trav6n-6 |
T |
A |
14: 53,370,497 (GRCm39) |
F83I |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,007 (GRCm39) |
H222R |
probably damaging |
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,793,294 (GRCm39) |
L288P |
probably benign |
Het |
Zfp442 |
T |
C |
2: 150,250,629 (GRCm39) |
I424M |
unknown |
Het |
Zfp580 |
T |
C |
7: 5,056,114 (GRCm39) |
V100A |
probably benign |
Het |
Zfpm1 |
C |
A |
8: 123,058,833 (GRCm39) |
P151Q |
probably damaging |
Het |
Zfr2 |
C |
T |
10: 81,078,649 (GRCm39) |
P294S |
possibly damaging |
Het |
|
Other mutations in Slc8a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Slc8a3
|
APN |
12 |
81,361,343 (GRCm39) |
missense |
probably benign |
|
IGL01315:Slc8a3
|
APN |
12 |
81,361,169 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01365:Slc8a3
|
APN |
12 |
81,362,150 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01610:Slc8a3
|
APN |
12 |
81,362,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Slc8a3
|
APN |
12 |
81,362,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02299:Slc8a3
|
APN |
12 |
81,361,998 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02548:Slc8a3
|
APN |
12 |
81,250,930 (GRCm39) |
splice site |
probably benign |
|
IGL02646:Slc8a3
|
APN |
12 |
81,361,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03135:Slc8a3
|
APN |
12 |
81,249,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Slc8a3
|
UTSW |
12 |
81,362,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Slc8a3
|
UTSW |
12 |
81,361,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R0648:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R1342:Slc8a3
|
UTSW |
12 |
81,362,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R1437:Slc8a3
|
UTSW |
12 |
81,362,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Slc8a3
|
UTSW |
12 |
81,246,484 (GRCm39) |
missense |
probably benign |
|
R1470:Slc8a3
|
UTSW |
12 |
81,246,484 (GRCm39) |
missense |
probably benign |
|
R1557:Slc8a3
|
UTSW |
12 |
81,362,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R1563:Slc8a3
|
UTSW |
12 |
81,251,781 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1918:Slc8a3
|
UTSW |
12 |
81,361,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R1930:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Slc8a3
|
UTSW |
12 |
81,361,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Slc8a3
|
UTSW |
12 |
81,249,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R2941:Slc8a3
|
UTSW |
12 |
81,361,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R3157:Slc8a3
|
UTSW |
12 |
81,361,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Slc8a3
|
UTSW |
12 |
81,361,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R3751:Slc8a3
|
UTSW |
12 |
81,250,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R3859:Slc8a3
|
UTSW |
12 |
81,361,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R4240:Slc8a3
|
UTSW |
12 |
81,361,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R4527:Slc8a3
|
UTSW |
12 |
81,362,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R4547:Slc8a3
|
UTSW |
12 |
81,361,625 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4951:Slc8a3
|
UTSW |
12 |
81,362,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R4951:Slc8a3
|
UTSW |
12 |
81,361,473 (GRCm39) |
missense |
probably benign |
0.31 |
R5022:Slc8a3
|
UTSW |
12 |
81,246,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R5049:Slc8a3
|
UTSW |
12 |
81,260,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Slc8a3
|
UTSW |
12 |
81,246,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R5104:Slc8a3
|
UTSW |
12 |
81,260,908 (GRCm39) |
missense |
probably null |
0.34 |
R5122:Slc8a3
|
UTSW |
12 |
81,361,032 (GRCm39) |
critical splice donor site |
probably null |
|
R5183:Slc8a3
|
UTSW |
12 |
81,361,265 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5629:Slc8a3
|
UTSW |
12 |
81,246,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6062:Slc8a3
|
UTSW |
12 |
81,361,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Slc8a3
|
UTSW |
12 |
81,246,341 (GRCm39) |
missense |
probably benign |
|
R6279:Slc8a3
|
UTSW |
12 |
81,361,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6300:Slc8a3
|
UTSW |
12 |
81,361,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6416:Slc8a3
|
UTSW |
12 |
81,362,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Slc8a3
|
UTSW |
12 |
81,361,206 (GRCm39) |
missense |
probably benign |
0.00 |
R6999:Slc8a3
|
UTSW |
12 |
81,361,529 (GRCm39) |
missense |
probably benign |
0.06 |
R7195:Slc8a3
|
UTSW |
12 |
81,361,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7268:Slc8a3
|
UTSW |
12 |
81,361,827 (GRCm39) |
missense |
probably damaging |
0.98 |
R7288:Slc8a3
|
UTSW |
12 |
81,263,598 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7383:Slc8a3
|
UTSW |
12 |
81,362,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Slc8a3
|
UTSW |
12 |
81,361,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R7394:Slc8a3
|
UTSW |
12 |
81,260,832 (GRCm39) |
splice site |
probably null |
|
R7549:Slc8a3
|
UTSW |
12 |
81,361,544 (GRCm39) |
missense |
probably benign |
0.06 |
R7657:Slc8a3
|
UTSW |
12 |
81,361,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Slc8a3
|
UTSW |
12 |
81,361,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Slc8a3
|
UTSW |
12 |
81,361,325 (GRCm39) |
missense |
probably benign |
|
R7960:Slc8a3
|
UTSW |
12 |
81,263,506 (GRCm39) |
missense |
probably benign |
0.00 |
R7985:Slc8a3
|
UTSW |
12 |
81,361,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Slc8a3
|
UTSW |
12 |
81,249,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Slc8a3
|
UTSW |
12 |
81,246,542 (GRCm39) |
missense |
probably benign |
0.45 |
R8413:Slc8a3
|
UTSW |
12 |
81,361,452 (GRCm39) |
missense |
probably damaging |
0.97 |
R8681:Slc8a3
|
UTSW |
12 |
81,361,914 (GRCm39) |
missense |
probably benign |
|
R9060:Slc8a3
|
UTSW |
12 |
81,260,852 (GRCm39) |
missense |
probably benign |
0.45 |
R9061:Slc8a3
|
UTSW |
12 |
81,263,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R9267:Slc8a3
|
UTSW |
12 |
81,361,208 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9416:Slc8a3
|
UTSW |
12 |
81,361,838 (GRCm39) |
missense |
probably benign |
0.06 |
R9519:Slc8a3
|
UTSW |
12 |
81,362,326 (GRCm39) |
missense |
probably benign |
0.30 |
R9531:Slc8a3
|
UTSW |
12 |
81,361,997 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Slc8a3
|
UTSW |
12 |
81,362,061 (GRCm39) |
missense |
probably benign |
0.22 |
X0028:Slc8a3
|
UTSW |
12 |
81,361,717 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc8a3
|
UTSW |
12 |
81,362,650 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Slc8a3
|
UTSW |
12 |
81,361,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATGTAGCAGTAGGCCTCC -3'
(R):5'- AAAGGATGCTCATAAGGCCC -3'
Sequencing Primer
(F):5'- CCTCCAGCGTGGCAAATAGTATG -3'
(R):5'- TTTGCCAGCAAAGCCGC -3'
|
Posted On |
2020-07-13 |