Incidental Mutation 'R5629:Slc8a3'
ID |
442007 |
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 |
043280-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5629 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 81246405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 883
(R883C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064594
AA Change: R882C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: R882C
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: R876C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: R876C
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: R883C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: R883C
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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 36,014,507 (GRCm39) |
D189N |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,775,114 (GRCm39) |
V1052D |
probably damaging |
Het |
Apob |
T |
C |
12: 8,057,847 (GRCm39) |
Y2077H |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,602,276 (GRCm39) |
K291N |
probably benign |
Het |
Arsk |
A |
T |
13: 76,242,027 (GRCm39) |
I82N |
probably damaging |
Het |
Art1 |
A |
G |
7: 101,756,286 (GRCm39) |
Q159R |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,598,159 (GRCm39) |
V733A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,130 (GRCm39) |
|
probably null |
Het |
Catsper1 |
C |
T |
19: 5,386,165 (GRCm39) |
P133S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,726,266 (GRCm39) |
D3165G |
probably benign |
Het |
Cldn19 |
T |
A |
4: 119,114,116 (GRCm39) |
V86E |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,382,802 (GRCm39) |
D649E |
probably benign |
Het |
Cttnbp2 |
A |
G |
6: 18,405,217 (GRCm39) |
I1094T |
probably damaging |
Het |
Ddx24 |
T |
C |
12: 103,391,806 (GRCm39) |
|
probably benign |
Het |
Ern2 |
T |
A |
7: 121,769,389 (GRCm39) |
H879L |
probably damaging |
Het |
Etv4 |
T |
A |
11: 101,662,751 (GRCm39) |
H277L |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,837 (GRCm39) |
A312D |
probably damaging |
Het |
Glipr1l1 |
G |
A |
10: 111,914,308 (GRCm39) |
C223Y |
possibly damaging |
Het |
Gna14 |
T |
C |
19: 16,414,097 (GRCm39) |
S14P |
possibly damaging |
Het |
Hapln1 |
A |
G |
13: 89,749,634 (GRCm39) |
T60A |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,719 (GRCm39) |
Y273* |
probably null |
Het |
Ighv5-6 |
A |
T |
12: 113,589,242 (GRCm39) |
Y79* |
probably null |
Het |
Iqgap2 |
T |
A |
13: 95,768,682 (GRCm39) |
N1406I |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,860,304 (GRCm39) |
T215A |
possibly damaging |
Het |
Krtap13-1 |
T |
A |
16: 88,526,047 (GRCm39) |
S90R |
probably benign |
Het |
Mettl8 |
T |
C |
2: 70,795,913 (GRCm39) |
I372V |
probably benign |
Het |
Mfn1 |
A |
T |
3: 32,615,659 (GRCm39) |
T341S |
possibly damaging |
Het |
Mocos |
T |
A |
18: 24,797,142 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,036 (GRCm39) |
S2661P |
possibly damaging |
Het |
Myo15a |
C |
T |
11: 60,370,578 (GRCm39) |
P1113S |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,111,127 (GRCm39) |
I1540F |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,156 (GRCm39) |
Y287H |
probably damaging |
Het |
Napepld |
A |
G |
5: 21,880,901 (GRCm39) |
F165L |
probably benign |
Het |
Ndufb10 |
T |
C |
17: 24,941,656 (GRCm39) |
E102G |
probably damaging |
Het |
Nrros |
T |
A |
16: 31,963,223 (GRCm39) |
I265F |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,897,460 (GRCm39) |
F891I |
possibly damaging |
Het |
Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
Oas2 |
G |
A |
5: 120,876,516 (GRCm39) |
Q476* |
probably null |
Het |
Or51f5 |
A |
T |
7: 102,423,847 (GRCm39) |
I39F |
possibly damaging |
Het |
Pcnx2 |
C |
A |
8: 126,624,780 (GRCm39) |
W14L |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,165,373 (GRCm39) |
H278R |
probably benign |
Het |
Piwil2 |
C |
T |
14: 70,660,416 (GRCm39) |
V70M |
probably damaging |
Het |
Prss23 |
A |
C |
7: 89,159,400 (GRCm39) |
V223G |
probably damaging |
Het |
Rarres2 |
A |
T |
6: 48,547,194 (GRCm39) |
L122Q |
probably benign |
Het |
Robo1 |
T |
C |
16: 72,780,598 (GRCm39) |
V776A |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,330,507 (GRCm39) |
Q1008* |
probably null |
Het |
Robo4 |
G |
A |
9: 37,319,658 (GRCm39) |
C636Y |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,395,464 (GRCm39) |
M196V |
probably benign |
Het |
Septin7 |
T |
A |
9: 25,199,589 (GRCm39) |
Y163N |
probably damaging |
Het |
Skint6 |
G |
A |
4: 112,870,176 (GRCm39) |
T594I |
possibly damaging |
Het |
Slc23a1 |
T |
C |
18: 35,759,545 (GRCm39) |
H13R |
probably benign |
Het |
Slc25a39 |
A |
C |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
Spag17 |
A |
T |
3: 99,987,435 (GRCm39) |
Y1575F |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,705 (GRCm39) |
I321N |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,614,576 (GRCm39) |
P311S |
probably damaging |
Het |
Svs3a |
T |
A |
2: 164,132,040 (GRCm39) |
S203T |
probably benign |
Het |
Taf3 |
A |
T |
2: 9,922,989 (GRCm39) |
I45N |
probably damaging |
Het |
Taf7 |
T |
C |
18: 37,776,555 (GRCm39) |
N4S |
probably benign |
Het |
Tial1 |
T |
A |
7: 128,046,421 (GRCm39) |
D87V |
probably damaging |
Het |
Tmem120a |
T |
A |
5: 135,770,904 (GRCm39) |
E78V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,183,165 (GRCm39) |
F137L |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trim30d |
T |
C |
7: 104,137,136 (GRCm39) |
K23E |
possibly damaging |
Het |
Ubxn7 |
C |
A |
16: 32,151,117 (GRCm39) |
H4Q |
unknown |
Het |
Usp40 |
C |
T |
1: 87,908,731 (GRCm39) |
R590H |
probably benign |
Het |
Vmn1r90 |
A |
G |
7: 14,296,011 (GRCm39) |
M22T |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 64,012,538 (GRCm39) |
V800M |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,267,673 (GRCm39) |
I313N |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
Zic4 |
G |
A |
9: 91,260,805 (GRCm39) |
R20H |
probably benign |
Het |
Zp3r |
C |
T |
1: 130,510,616 (GRCm39) |
V369M |
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 |
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 |
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'- ATGCGTCCTTCTCTCAGGAG -3'
(R):5'- ACGTGTATGCAGATGCTTCC -3'
Sequencing Primer
(F):5'- TCTCTCAGGAGAAGTCCCAG -3'
(R):5'- AGATGCTTCCATTGGCAACG -3'
|
Posted On |
2016-11-08 |