Incidental Mutation 'R9267:Slc8a3'
ID |
702633 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9267 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81361208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 537
(D537V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: D537V
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 |
possibly damaging
Transcript: ENSMUST00000085238
AA Change: D537V
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: D537V
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: D537V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: D537V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (79/81) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
G |
T |
14: 118,869,657 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
T |
A |
15: 91,063,423 (GRCm39) |
T422S |
possibly damaging |
Het |
Acsl3 |
T |
G |
1: 78,674,623 (GRCm39) |
I390S |
probably damaging |
Het |
Adad1 |
T |
A |
3: 37,139,074 (GRCm39) |
|
probably benign |
Het |
Adam3 |
A |
G |
8: 25,171,605 (GRCm39) |
V742A |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,155,618 (GRCm39) |
I450K |
possibly damaging |
Het |
Adgrb2 |
T |
C |
4: 129,885,901 (GRCm39) |
S14P |
possibly damaging |
Het |
Arfgef3 |
T |
A |
10: 18,475,028 (GRCm39) |
I1553F |
probably damaging |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Ccdc27 |
A |
G |
4: 154,117,441 (GRCm39) |
L502P |
probably damaging |
Het |
Ccdc50 |
T |
A |
16: 27,208,700 (GRCm39) |
L5Q |
|
Het |
Cdh16 |
C |
T |
8: 105,341,834 (GRCm39) |
G777D |
probably damaging |
Het |
Cntn2 |
C |
A |
1: 132,449,021 (GRCm39) |
V663L |
probably benign |
Het |
Cpne4 |
T |
A |
9: 104,884,833 (GRCm39) |
V343E |
probably damaging |
Het |
Dctpp1 |
A |
T |
7: 126,856,275 (GRCm39) |
I149N |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,204,745 (GRCm39) |
N1266S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,232,145 (GRCm39) |
D3246G |
probably benign |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Erbin |
T |
C |
13: 103,987,292 (GRCm39) |
T423A |
probably damaging |
Het |
Erich5 |
C |
T |
15: 34,471,563 (GRCm39) |
P264L |
possibly damaging |
Het |
Fam90a1a |
A |
G |
8: 22,453,091 (GRCm39) |
M149V |
probably benign |
Het |
Fbxl18 |
C |
T |
5: 142,880,870 (GRCm39) |
G62R |
possibly damaging |
Het |
Fech |
A |
G |
18: 64,591,267 (GRCm39) |
S386P |
possibly damaging |
Het |
Fhl3 |
T |
A |
4: 124,601,498 (GRCm39) |
|
probably null |
Het |
Fkbp5 |
A |
G |
17: 28,629,558 (GRCm39) |
S256P |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,564,504 (GRCm39) |
M1T |
probably null |
Het |
Galnt5 |
T |
C |
2: 57,925,220 (GRCm39) |
F834L |
possibly damaging |
Het |
Gm3618 |
G |
T |
14: 17,502,588 (GRCm39) |
T99N |
unknown |
Het |
Gm9195 |
T |
A |
14: 72,700,546 (GRCm39) |
Q1127L |
possibly damaging |
Het |
Gpsm1 |
A |
G |
2: 26,236,835 (GRCm39) |
D643G |
probably damaging |
Het |
Grm4 |
A |
G |
17: 27,654,183 (GRCm39) |
V589A |
possibly damaging |
Het |
Gskip |
T |
A |
12: 105,665,052 (GRCm39) |
F30L |
probably benign |
Het |
Haus3 |
T |
A |
5: 34,311,452 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
C |
13: 12,421,489 (GRCm39) |
F463S |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,473,740 (GRCm39) |
S4851F |
probably benign |
Het |
Il16 |
A |
C |
7: 83,371,757 (GRCm39) |
F16L |
probably benign |
Het |
Itga1 |
C |
A |
13: 115,185,924 (GRCm39) |
C26F |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,668,756 (GRCm39) |
E565G |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,870,465 (GRCm39) |
H98R |
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,038,558 (GRCm39) |
S37T |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,495,406 (GRCm39) |
D2804E |
unknown |
Het |
Lrrk2 |
C |
T |
15: 91,584,629 (GRCm39) |
L349F |
probably damaging |
Het |
Malrd1 |
T |
G |
2: 16,260,077 (GRCm39) |
I2099S |
unknown |
Het |
Mapk8ip1 |
A |
G |
2: 92,216,714 (GRCm39) |
I492T |
possibly damaging |
Het |
Mest |
T |
A |
6: 30,742,141 (GRCm39) |
D68E |
|
Het |
Mthfd1l |
A |
G |
10: 3,934,154 (GRCm39) |
D162G |
probably benign |
Het |
Nalcn |
A |
T |
14: 123,518,567 (GRCm39) |
D1657E |
probably benign |
Het |
Nbeal2 |
C |
A |
9: 110,462,115 (GRCm39) |
V1475F |
probably damaging |
Het |
Nf1 |
C |
A |
11: 79,331,716 (GRCm39) |
Q684K |
possibly damaging |
Het |
Opn5 |
T |
A |
17: 42,903,793 (GRCm39) |
T181S |
probably damaging |
Het |
Or10ag54 |
T |
C |
2: 87,099,326 (GRCm39) |
L67P |
possibly damaging |
Het |
Or1j19 |
A |
T |
2: 36,676,530 (GRCm39) |
|
probably benign |
Het |
Or7a38 |
A |
G |
10: 78,752,803 (GRCm39) |
N43S |
probably damaging |
Het |
Or9s15 |
A |
T |
1: 92,524,994 (GRCm39) |
H251L |
probably damaging |
Het |
Or9s15 |
A |
T |
1: 92,524,996 (GRCm39) |
M252L |
probably benign |
Het |
Orc4 |
T |
A |
2: 48,827,534 (GRCm39) |
R20* |
probably null |
Het |
Pik3ca |
T |
C |
3: 32,492,211 (GRCm39) |
Y270H |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,517,676 (GRCm39) |
E474G |
probably null |
Het |
Pnma8b |
A |
T |
7: 16,679,159 (GRCm39) |
N48Y |
unknown |
Het |
Pnpla2 |
A |
C |
7: 141,036,503 (GRCm39) |
|
probably benign |
Het |
Polr1a |
G |
A |
6: 71,942,542 (GRCm39) |
M1127I |
probably benign |
Het |
Ptpre |
A |
C |
7: 135,274,549 (GRCm39) |
D507A |
probably damaging |
Het |
Rab3gap2 |
T |
C |
1: 184,983,331 (GRCm39) |
V490A |
probably damaging |
Het |
Rab44 |
A |
T |
17: 29,354,338 (GRCm39) |
|
probably benign |
Het |
Rchy1 |
G |
T |
5: 92,105,831 (GRCm39) |
T39N |
probably benign |
Het |
Ripor1 |
A |
G |
8: 106,348,063 (GRCm39) |
D1146G |
unknown |
Het |
Sh3yl1 |
A |
T |
12: 30,972,335 (GRCm39) |
I35F |
possibly damaging |
Het |
Slc22a5 |
A |
G |
11: 53,764,619 (GRCm39) |
F276L |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,941,786 (GRCm39) |
I1263N |
probably damaging |
Het |
Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
Stam2 |
A |
T |
2: 52,604,903 (GRCm39) |
Y211N |
probably damaging |
Het |
Stxbp1 |
A |
G |
2: 32,708,517 (GRCm39) |
S83P |
probably damaging |
Het |
Susd4 |
T |
C |
1: 182,716,389 (GRCm39) |
F325L |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,947,236 (GRCm39) |
V59A |
probably benign |
Het |
Tnk2 |
A |
G |
16: 32,494,489 (GRCm39) |
D469G |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,732,517 (GRCm39) |
D597G |
probably damaging |
Het |
Ube2w |
A |
T |
1: 16,612,011 (GRCm39) |
S170R |
|
Het |
Vmn2r102 |
A |
T |
17: 19,896,928 (GRCm39) |
I92F |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,199,929 (GRCm39) |
E508V |
possibly damaging |
Het |
Vmn2r30 |
T |
A |
7: 7,340,432 (GRCm39) |
I21F |
possibly damaging |
Het |
Yipf2 |
G |
A |
9: 21,501,489 (GRCm39) |
T187M |
possibly damaging |
Het |
Zbtb8a |
T |
A |
4: 129,248,267 (GRCm39) |
K335* |
probably null |
Het |
Zfp609 |
T |
C |
9: 65,608,328 (GRCm39) |
D1184G |
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 |
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 |
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'- TCCAGTAGTGTCTGCTGATCC -3'
(R):5'- TGTGAGGCTGAGCAATGTCC -3'
Sequencing Primer
(F):5'- CTGATCCCTCATACCTGTGATGAAAG -3'
(R):5'- CTGAGCAATGTCCGTGTAGAAG -3'
|
Posted On |
2022-03-25 |