Incidental Mutation 'R7288:Slc8a3'
| ID |
566180 |
| 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 |
045395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81263598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 596
(K596N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
| AlphaFold |
S4R2P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064594
|
| SMART Domains |
Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
| 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 benign
Transcript: ENSMUST00000085238
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
| 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 |
possibly damaging
Transcript: ENSMUST00000182208
AA Change: K596N
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: K596N
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,131 (GRCm39) |
D204E |
probably benign |
Het |
| Adh1 |
T |
G |
3: 137,988,493 (GRCm39) |
D155E |
probably benign |
Het |
| Akt1s1 |
T |
C |
7: 44,498,571 (GRCm39) |
L2P |
unknown |
Het |
| Ash1l |
T |
A |
3: 88,873,199 (GRCm39) |
|
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,641 (GRCm39) |
P228S |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,824,585 (GRCm39) |
E218G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,479,001 (GRCm39) |
F127Y |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,846 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,847,093 (GRCm39) |
T1612I |
possibly damaging |
Het |
| Col4a4 |
A |
T |
1: 82,470,184 (GRCm39) |
C782S |
unknown |
Het |
| Copg2 |
T |
A |
6: 30,801,341 (GRCm39) |
I364L |
probably damaging |
Het |
| Crygb |
A |
G |
1: 65,121,084 (GRCm39) |
L81P |
probably benign |
Het |
| Cyp4f18 |
A |
T |
8: 72,747,017 (GRCm39) |
M326K |
probably damaging |
Het |
| Dhx34 |
A |
G |
7: 15,949,361 (GRCm39) |
S356P |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,685,519 (GRCm39) |
Q855* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,007 (GRCm39) |
T343A |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,938 (GRCm39) |
N160S |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,139 (GRCm39) |
C228* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,775 (GRCm39) |
N972D |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,888 (GRCm39) |
D2038G |
probably damaging |
Het |
| Fhit |
T |
A |
14: 9,763,784 (GRCm38) |
R102W |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,609 (GRCm39) |
D272V |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,651 (GRCm39) |
V286D |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,206 (GRCm39) |
M185K |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,490,821 (GRCm39) |
I311V |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,630 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,963 (GRCm39) |
W66* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,016,142 (GRCm39) |
I975N |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,921,262 (GRCm39) |
E281G |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,365,523 (GRCm39) |
T1369S |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,382 (GRCm39) |
D84E |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,059 (GRCm39) |
C164F |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,725,180 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nacc1 |
C |
T |
8: 85,403,174 (GRCm39) |
A234T |
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,416,641 (GRCm39) |
V551I |
probably benign |
Het |
| Or13a26 |
T |
A |
7: 140,284,942 (GRCm39) |
C259* |
probably null |
Het |
| Or7e175 |
T |
A |
9: 20,048,737 (GRCm39) |
Y108* |
probably null |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,068 (GRCm39) |
D71E |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,196 (GRCm39) |
S127G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,227 (GRCm39) |
L1296H |
probably damaging |
Het |
| Ppil6 |
C |
G |
10: 41,374,524 (GRCm39) |
T135R |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,004,203 (GRCm39) |
Y378C |
probably damaging |
Het |
| Rabep2 |
C |
T |
7: 126,043,377 (GRCm39) |
R426C |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,845,976 (GRCm39) |
H31Q |
possibly damaging |
Het |
| Rad50 |
G |
T |
11: 53,545,776 (GRCm39) |
Y1182* |
probably null |
Het |
| Serpinb9c |
C |
T |
13: 33,335,883 (GRCm39) |
A218T |
possibly damaging |
Het |
| Slc34a1 |
C |
A |
13: 24,003,095 (GRCm39) |
H248Q |
probably benign |
Het |
| Slc45a4 |
C |
A |
15: 73,458,785 (GRCm39) |
E255* |
probably null |
Het |
| Tbc1d32 |
A |
C |
10: 55,927,483 (GRCm39) |
|
probably null |
Het |
| Tbl2 |
T |
A |
5: 135,183,253 (GRCm39) |
I112N |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,853,630 (GRCm39) |
K238T |
probably damaging |
Het |
| Tfap2d |
G |
A |
1: 19,189,207 (GRCm39) |
G251D |
probably damaging |
Het |
| Thrb |
T |
A |
14: 18,030,186 (GRCm38) |
M324K |
probably damaging |
Het |
| Tmem259 |
A |
T |
10: 79,814,300 (GRCm39) |
L328Q |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,469 (GRCm39) |
H88R |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,709 (GRCm39) |
H107R |
possibly damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,471 (GRCm39) |
V347A |
probably benign |
Het |
| Ung |
T |
A |
5: 114,269,315 (GRCm39) |
L9* |
probably null |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,174 (GRCm39) |
V215F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,286 (GRCm39) |
S1657P |
probably benign |
Het |
| Wdsub1 |
A |
T |
2: 59,708,487 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Zfp369 |
T |
G |
13: 65,432,832 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
G |
T |
2: 114,026,142 (GRCm39) |
C642* |
probably null |
Het |
| Zfp981 |
C |
T |
4: 146,622,100 (GRCm39) |
R342C |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,042 (GRCm39) |
V375G |
probably 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 |
|
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 |
|
R8192:Slc8a3
|
UTSW |
12 |
81,246,455 (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'- TACCATGTGACAGGTTGGC -3'
(R):5'- AAAGGACTCACTGAAGCTGG -3'
Sequencing Primer
(F):5'- ACAGGTTGGCAGGTGTTAGGAC -3'
(R):5'- ACTCACTGAAGCTGGAGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation