Incidental Mutation 'R7960:Slc8a3'
ID |
650079 |
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 |
046004-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7960 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81263506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 627
(S627N)
|
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 |
probably benign
Transcript: ENSMUST00000182208
AA Change: S627N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: S627N
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: 99.1%
|
Validation Efficiency |
99% (71/72) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
T |
C |
7: 115,702,481 (GRCm39) |
S82P |
possibly damaging |
Het |
Ablim2 |
A |
C |
5: 36,014,493 (GRCm39) |
E450A |
probably benign |
Het |
Acacb |
G |
T |
5: 114,368,922 (GRCm39) |
M1713I |
probably benign |
Het |
Acbd6 |
C |
A |
1: 155,562,766 (GRCm39) |
Q256K |
probably benign |
Het |
Agbl2 |
A |
T |
2: 90,621,975 (GRCm39) |
N154I |
probably benign |
Het |
Ahcyl2 |
A |
G |
6: 29,870,626 (GRCm39) |
N181D |
probably benign |
Het |
Aldh18a1 |
A |
T |
19: 40,546,264 (GRCm39) |
D544E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,516,513 (GRCm39) |
L407Q |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,362,980 (GRCm39) |
V34D |
|
Het |
Brd3 |
A |
T |
2: 27,342,945 (GRCm39) |
S516T |
probably benign |
Het |
Bsn |
A |
G |
9: 107,992,747 (GRCm39) |
S1002P |
probably damaging |
Het |
C4b |
G |
T |
17: 34,960,252 (GRCm39) |
|
probably null |
Het |
Camta1 |
T |
C |
4: 151,232,990 (GRCm39) |
T228A |
probably benign |
Het |
Cct6b |
T |
C |
11: 82,632,221 (GRCm39) |
K256E |
possibly damaging |
Het |
Cep85l |
T |
A |
10: 53,172,403 (GRCm39) |
Q552L |
probably benign |
Het |
Col6a5 |
A |
G |
9: 105,823,049 (GRCm39) |
F103L |
unknown |
Het |
Copb2 |
A |
G |
9: 98,462,407 (GRCm39) |
Q464R |
possibly damaging |
Het |
Dlc1 |
G |
T |
8: 37,404,989 (GRCm39) |
H267N |
probably benign |
Het |
Dnajb2 |
T |
C |
1: 75,218,055 (GRCm39) |
I184T |
|
Het |
Dnajc9 |
C |
T |
14: 20,438,764 (GRCm39) |
E30K |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,678,917 (GRCm39) |
L1012P |
possibly damaging |
Het |
Dtnbp1 |
T |
C |
13: 45,106,650 (GRCm39) |
K170R |
probably benign |
Het |
F13b |
T |
A |
1: 139,431,509 (GRCm39) |
C26* |
probably null |
Het |
Ficd |
G |
T |
5: 113,877,020 (GRCm39) |
E398D |
probably benign |
Het |
G6pc1 |
G |
A |
11: 101,267,359 (GRCm39) |
G270R |
probably damaging |
Het |
Garin4 |
T |
A |
1: 190,895,645 (GRCm39) |
T333S |
probably benign |
Het |
Gm3604 |
T |
C |
13: 62,517,587 (GRCm39) |
Y257C |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,531,606 (GRCm39) |
Y3221F |
probably damaging |
Het |
Hs3st3b1 |
C |
T |
11: 63,812,694 (GRCm39) |
G7D |
possibly damaging |
Het |
Htr3b |
A |
T |
9: 48,856,852 (GRCm39) |
S209T |
probably benign |
Het |
Ift70a1 |
A |
T |
2: 75,811,188 (GRCm39) |
D298E |
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,126,326 (GRCm39) |
E192D |
probably benign |
Het |
Inpp5f |
A |
G |
7: 128,295,638 (GRCm39) |
|
probably null |
Het |
Kif26b |
T |
A |
1: 178,506,484 (GRCm39) |
C187S |
probably damaging |
Het |
Klhl11 |
A |
G |
11: 100,354,805 (GRCm39) |
S339P |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,467 (GRCm39) |
A40T |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,520,194 (GRCm39) |
T1972I |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,869,094 (GRCm39) |
T2784A |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,472,746 (GRCm39) |
F1088I |
probably damaging |
Het |
Map2k2 |
G |
A |
10: 80,954,968 (GRCm39) |
R185Q |
probably benign |
Het |
Mbd5 |
G |
A |
2: 49,169,796 (GRCm39) |
|
probably null |
Het |
Mdc1 |
A |
T |
17: 36,161,570 (GRCm39) |
R828* |
probably null |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Or5g25 |
A |
G |
2: 85,478,417 (GRCm39) |
S83P |
possibly damaging |
Het |
Parp4 |
C |
A |
14: 56,832,708 (GRCm39) |
|
probably null |
Het |
Pbk |
T |
A |
14: 66,046,650 (GRCm39) |
|
probably null |
Het |
Phip |
A |
T |
9: 82,775,401 (GRCm39) |
D1060E |
probably benign |
Het |
Pik3c2b |
T |
A |
1: 133,031,587 (GRCm39) |
L1509Q |
probably damaging |
Het |
Pik3r5 |
T |
A |
11: 68,386,796 (GRCm39) |
F808L |
probably benign |
Het |
Plcl1 |
T |
A |
1: 55,736,443 (GRCm39) |
S595T |
possibly damaging |
Het |
Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,437,727 (GRCm39) |
K95R |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,946,888 (GRCm39) |
T259A |
probably benign |
Het |
Pramel52-ps |
A |
G |
5: 94,531,739 (GRCm39) |
M208V |
probably benign |
Het |
Ptpn12 |
G |
T |
5: 21,260,687 (GRCm39) |
P20Q |
probably benign |
Het |
Ptpn5 |
T |
A |
7: 46,729,295 (GRCm39) |
T440S |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,515,820 (GRCm39) |
R845G |
probably benign |
Het |
Rasgrp2 |
G |
T |
19: 6,464,839 (GRCm39) |
V596L |
probably benign |
Het |
Rcbtb2 |
T |
G |
14: 73,399,384 (GRCm39) |
V16G |
probably benign |
Het |
Rel |
T |
C |
11: 23,694,493 (GRCm39) |
N289S |
probably damaging |
Het |
Rpn1 |
T |
A |
6: 88,079,068 (GRCm39) |
Y504N |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
G |
A |
17: 3,221,397 (GRCm39) |
V295M |
unknown |
Het |
Skic3 |
T |
C |
13: 76,260,318 (GRCm39) |
C87R |
probably benign |
Het |
Slc25a48 |
T |
A |
13: 56,611,411 (GRCm39) |
Y173N |
probably damaging |
Het |
Snx8 |
T |
A |
5: 140,343,848 (GRCm39) |
M123L |
probably benign |
Het |
Sri |
A |
T |
5: 8,114,586 (GRCm39) |
Q180H |
probably benign |
Het |
Sycp2 |
T |
A |
2: 178,046,453 (GRCm39) |
R4S |
probably null |
Het |
Tcstv1a |
G |
A |
13: 120,355,521 (GRCm39) |
T37I |
possibly damaging |
Het |
Tnnc2 |
A |
T |
2: 164,619,704 (GRCm39) |
D87E |
probably benign |
Het |
Trim7 |
A |
T |
11: 48,728,628 (GRCm39) |
N92I |
probably damaging |
Het |
Trpv6 |
C |
T |
6: 41,604,612 (GRCm39) |
D97N |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,102,022 (GRCm39) |
Y19H |
probably damaging |
Het |
Vmn2r69 |
C |
T |
7: 85,055,973 (GRCm39) |
V722I |
probably benign |
Het |
Zan |
T |
C |
5: 137,407,865 (GRCm39) |
D3643G |
unknown |
Het |
Zan |
G |
A |
5: 137,463,154 (GRCm39) |
T675I |
unknown |
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 |
|
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'- AGGACCTCTCTATGGATACCATG -3'
(R):5'- CCTCCATGCACTTGTGGAAC -3'
Sequencing Primer
(F):5'- CTCTCTATGGATACCATGTGACAGG -3'
(R):5'- CTTGTGGAACTAGGGCCAATTTGAAC -3'
|
Posted On |
2020-09-15 |