Incidental Mutation 'R7394:Slc8a3'
| ID |
615898 |
| 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 |
045476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
| Type of Mutation |
splice site (8 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 81260832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
| AlphaFold |
S4R2P9 |
| Predicted Effect |
probably null
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 null
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 |
probably null
Transcript: ENSMUST00000182208
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
| 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 null
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: 99.0%
|
| Validation Efficiency |
99% (66/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,445,038 (GRCm39) |
I208V |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,338,321 (GRCm39) |
I646F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,730,302 (GRCm39) |
I711L |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,821,298 (GRCm39) |
N251D |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,147 (GRCm39) |
T304A |
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,499,532 (GRCm39) |
T26A |
possibly damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,201 (GRCm39) |
|
probably benign |
Het |
| Ccr4 |
C |
T |
9: 114,320,994 (GRCm39) |
R357H |
probably benign |
Het |
| Cd4 |
T |
A |
6: 124,850,004 (GRCm39) |
M104L |
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,936,965 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,002,878 (GRCm39) |
Y731C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,350,790 (GRCm39) |
S114P |
not run |
Het |
| Cenpv |
T |
C |
11: 62,427,114 (GRCm39) |
D148G |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,450,334 (GRCm39) |
Y596F |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,079 (GRCm39) |
A122E |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,496,184 (GRCm39) |
T1602A |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,204,677 (GRCm39) |
Y290N |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,283,155 (GRCm39) |
V554E |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,474,975 (GRCm39) |
V70A |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam217a |
A |
T |
13: 35,094,262 (GRCm39) |
I499K |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,860,309 (GRCm39) |
Y2118* |
probably null |
Het |
| Gm3248 |
A |
T |
14: 5,945,781 (GRCm38) |
|
probably null |
Het |
| Gm5460 |
T |
G |
14: 33,765,879 (GRCm39) |
D165E |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,908,962 (GRCm39) |
N490Y |
probably benign |
Het |
| Iglc2 |
T |
A |
16: 19,013,886 (GRCm39) |
K59* |
probably null |
Het |
| Iqsec3 |
T |
A |
6: 121,363,569 (GRCm39) |
H895L |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,127,689 (GRCm39) |
S410P |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,754,265 (GRCm39) |
V1613F |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,024,256 (GRCm39) |
L118P |
|
Het |
| Lrrc25 |
A |
T |
8: 71,070,830 (GRCm39) |
S204C |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,010 (GRCm39) |
D619G |
unknown |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Mup17 |
G |
A |
4: 61,512,635 (GRCm39) |
S86F |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,459,257 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
C |
3: 135,319,458 (GRCm39) |
V291G |
possibly damaging |
Het |
| Nomo1 |
G |
T |
7: 45,715,903 (GRCm39) |
V757F |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,624,043 (GRCm39) |
S247T |
probably damaging |
Het |
| Or2at1 |
C |
A |
7: 99,416,553 (GRCm39) |
H61Q |
probably damaging |
Het |
| Or4c120 |
C |
T |
2: 89,000,705 (GRCm39) |
V284I |
probably benign |
Het |
| Or4f4-ps1 |
G |
T |
2: 111,330,241 (GRCm39) |
A215S |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,123 (GRCm39) |
I209F |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,961 (GRCm39) |
I356V |
probably benign |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ppia |
T |
C |
11: 6,369,218 (GRCm39) |
S99P |
possibly damaging |
Het |
| Prss47 |
C |
T |
13: 65,192,807 (GRCm39) |
V325I |
probably benign |
Het |
| Ptgr3 |
C |
T |
18: 84,106,315 (GRCm39) |
A9V |
probably benign |
Het |
| Ptk7 |
T |
C |
17: 46,902,683 (GRCm39) |
D34G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,645,353 (GRCm39) |
D195E |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,100 (GRCm39) |
Y202* |
probably null |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,716 (GRCm39) |
V50A |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,527,224 (GRCm39) |
V390I |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,510,109 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
G |
A |
8: 106,991,642 (GRCm39) |
R304W |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,218,780 (GRCm39) |
S490P |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,134,000 (GRCm39) |
M887R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,449 (GRCm39) |
T137A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,656,945 (GRCm39) |
Q367* |
probably null |
Het |
| Uroc1 |
C |
T |
6: 90,322,315 (GRCm39) |
R280C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,613 (GRCm39) |
I4325T |
possibly damaging |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,173 (GRCm39) |
I201T |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,596,411 (GRCm39) |
M626K |
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 |
|
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 |
|
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'- AGGAGTTGAGGCTGCAGTAC -3'
(R):5'- TGCTAAAGGTTGTACTCAGGC -3'
Sequencing Primer
(F):5'- CAGTACTGCCCAGAAGGTG -3'
(R):5'- GGTTGTACTCAGGCAAACAAAC -3'
|
| Posted On |
2020-01-13 |
Incidental Mutation