Incidental Mutation 'R7657:Slc8a3'
ID |
591291 |
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 |
045733-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7657 (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 C
at 81361158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 554
(R554G)
|
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: R554G
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: R554G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: R554G
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: R554G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: R554G
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 |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (80/80) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,337 (GRCm39) |
E28G |
possibly damaging |
Het |
Acot6 |
G |
A |
12: 84,153,304 (GRCm39) |
G182D |
possibly damaging |
Het |
Actl9 |
A |
G |
17: 33,652,014 (GRCm39) |
T25A |
probably benign |
Het |
Adam26b |
G |
A |
8: 43,974,579 (GRCm39) |
T141I |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,572,812 (GRCm39) |
H148R |
|
Het |
Angptl1 |
A |
G |
1: 156,684,790 (GRCm39) |
I320V |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 15,029,893 (GRCm39) |
R932C |
probably damaging |
Het |
Atp13a2 |
A |
G |
4: 140,719,815 (GRCm39) |
E91G |
possibly damaging |
Het |
Bptf |
T |
A |
11: 106,965,555 (GRCm39) |
E1213V |
probably damaging |
Het |
C530025M09Rik |
A |
G |
2: 149,672,541 (GRCm39) |
V198A |
unknown |
Het |
Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,527,152 (GRCm39) |
K627M |
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
Dctn2 |
T |
C |
10: 127,102,383 (GRCm39) |
Y6H |
probably damaging |
Het |
Denr |
T |
C |
5: 124,046,263 (GRCm39) |
V31A |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,713,906 (GRCm39) |
F422L |
possibly damaging |
Het |
Fastkd5 |
G |
C |
2: 130,458,176 (GRCm39) |
P138R |
probably benign |
Het |
Fmn1 |
G |
T |
2: 113,355,538 (GRCm39) |
A758S |
unknown |
Het |
Fmo2 |
A |
G |
1: 162,716,413 (GRCm39) |
V58A |
probably damaging |
Het |
Fmo6 |
A |
G |
1: 162,750,285 (GRCm39) |
I257T |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,256,790 (GRCm39) |
T302A |
probably benign |
Het |
Ganab |
C |
T |
19: 8,884,721 (GRCm39) |
L175F |
probably damaging |
Het |
Gga1 |
A |
T |
15: 78,773,327 (GRCm39) |
|
probably null |
Het |
Gjd3 |
G |
T |
11: 98,873,586 (GRCm39) |
S86* |
probably null |
Het |
Gm1330 |
A |
G |
2: 148,841,154 (GRCm39) |
|
probably null |
Het |
Gm18596 |
A |
C |
10: 77,577,947 (GRCm39) |
S176A |
unknown |
Het |
Gnl2 |
A |
G |
4: 124,923,951 (GRCm39) |
S10G |
probably benign |
Het |
Gpsm2 |
G |
A |
3: 108,608,061 (GRCm39) |
A239V |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,659,247 (GRCm39) |
R37G |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
Gtpbp3 |
T |
C |
8: 71,943,765 (GRCm39) |
L216P |
probably benign |
Het |
Hhla1 |
T |
C |
15: 65,837,308 (GRCm39) |
T99A |
probably damaging |
Het |
Igtp |
A |
T |
11: 58,097,654 (GRCm39) |
Q275L |
probably benign |
Het |
Itga6 |
G |
A |
2: 71,676,595 (GRCm39) |
A993T |
probably benign |
Het |
Jakmip3 |
T |
A |
7: 138,620,903 (GRCm39) |
I234N |
probably damaging |
Het |
Kcnh7 |
A |
G |
2: 62,566,379 (GRCm39) |
F851L |
probably damaging |
Het |
Krr1 |
A |
G |
10: 111,811,504 (GRCm39) |
Y66C |
probably damaging |
Het |
Krt33a |
T |
A |
11: 99,906,693 (GRCm39) |
Q94L |
probably benign |
Het |
Mat1a |
A |
T |
14: 40,844,476 (GRCm39) |
K369* |
probably null |
Het |
Mbd1 |
T |
G |
18: 74,407,804 (GRCm39) |
L277R |
probably damaging |
Het |
Mmp21 |
C |
T |
7: 133,280,562 (GRCm39) |
G136D |
probably benign |
Het |
Mroh3 |
A |
G |
1: 136,109,532 (GRCm39) |
Y892H |
possibly damaging |
Het |
Ncbp3 |
G |
A |
11: 72,964,193 (GRCm39) |
R381Q |
probably damaging |
Het |
Nlrp2 |
T |
A |
7: 5,322,167 (GRCm39) |
I827L |
probably benign |
Het |
Nrip1 |
T |
A |
16: 76,091,587 (GRCm39) |
|
probably null |
Het |
Or2ak4 |
A |
T |
11: 58,648,755 (GRCm39) |
D88V |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,839,093 (GRCm39) |
V146A |
probably benign |
Het |
Or5w13 |
C |
T |
2: 87,523,336 (GRCm39) |
V297I |
probably damaging |
Het |
Oxt |
C |
T |
2: 130,418,710 (GRCm39) |
P107L |
possibly damaging |
Het |
Pcdhga2 |
G |
A |
18: 37,803,481 (GRCm39) |
V442M |
probably damaging |
Het |
Phtf1 |
T |
G |
3: 103,876,429 (GRCm39) |
S10A |
probably benign |
Het |
Plb1 |
A |
C |
5: 32,487,211 (GRCm39) |
N902T |
probably damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,272 (GRCm39) |
I267V |
probably benign |
Het |
Pms2 |
C |
A |
5: 143,856,357 (GRCm39) |
H278Q |
possibly damaging |
Het |
Pmvk |
T |
A |
3: 89,376,158 (GRCm39) |
S154T |
possibly damaging |
Het |
Polr3b |
T |
A |
10: 84,491,855 (GRCm39) |
M338K |
probably damaging |
Het |
Ppp1r21 |
T |
A |
17: 88,863,110 (GRCm39) |
I283N |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,282,501 (GRCm39) |
|
probably null |
Het |
Rft1 |
T |
A |
14: 30,388,724 (GRCm39) |
L216H |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,965,258 (GRCm39) |
P174S |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,561,818 (GRCm39) |
D7G |
possibly damaging |
Het |
Slc13a2 |
A |
G |
11: 78,289,223 (GRCm39) |
V496A |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,156,879 (GRCm39) |
|
probably null |
Het |
Spata31d1b |
T |
C |
13: 59,863,577 (GRCm39) |
S242P |
possibly damaging |
Het |
Spocd1 |
G |
A |
4: 129,823,535 (GRCm39) |
V111I |
|
Het |
Stxbp5l |
G |
A |
16: 37,030,534 (GRCm39) |
A479V |
probably null |
Het |
Tasor2 |
A |
G |
13: 3,623,777 (GRCm39) |
S2058P |
probably damaging |
Het |
Tmem238 |
C |
G |
7: 4,792,226 (GRCm39) |
G106R |
probably damaging |
Het |
Trak1 |
T |
G |
9: 121,301,652 (GRCm39) |
Y803D |
probably damaging |
Het |
Trim5 |
T |
C |
7: 103,925,884 (GRCm39) |
S226G |
possibly damaging |
Het |
Trim6 |
T |
A |
7: 103,881,068 (GRCm39) |
D282E |
possibly damaging |
Het |
Ube2e2 |
A |
G |
14: 18,586,997 (GRCm38) |
V121A |
probably benign |
Het |
Ufd1 |
T |
G |
16: 18,636,713 (GRCm39) |
M77R |
probably benign |
Het |
Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
Wfs1 |
A |
G |
5: 37,125,578 (GRCm39) |
S438P |
probably benign |
Het |
Zbtb6 |
A |
C |
2: 37,319,087 (GRCm39) |
D280E |
probably benign |
Het |
Zfp595 |
G |
A |
13: 67,465,817 (GRCm39) |
L152F |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,671 (GRCm39) |
E1052G |
possibly damaging |
Het |
Zmym5 |
A |
G |
14: 57,041,653 (GRCm39) |
V150A |
probably benign |
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 |
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'- TCCCTCATACCTGTGATGAAAGC -3'
(R):5'- TGTCCGTGTAGAAGAGGAGC -3'
Sequencing Primer
(F):5'- TACCTGTGATGAAAGCAAAGTTTGG -3'
(R):5'- CCGTGTAGAAGAGGAGCAGCTG -3'
|
Posted On |
2019-11-12 |