Incidental Mutation 'R9061:Slc8a3'
ID |
688989 |
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 |
068887-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9061 (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 81263540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 616
(I616F)
|
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 damaging
Transcript: ENSMUST00000182208
AA Change: I616F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: I616F
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: 99.0%
|
Validation Efficiency |
100% (60/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930518I15Rik |
A |
G |
2: 156,699,133 (GRCm39) |
M1T |
probably null |
Het |
Abca13 |
A |
G |
11: 9,227,847 (GRCm39) |
E630G |
probably benign |
Het |
Abcf2 |
T |
A |
5: 24,778,504 (GRCm39) |
H218L |
possibly damaging |
Het |
Abo |
A |
T |
2: 26,733,395 (GRCm39) |
M268K |
probably benign |
Het |
Ankrd33 |
G |
T |
15: 101,014,029 (GRCm39) |
|
probably benign |
Het |
Apc |
G |
C |
18: 34,446,251 (GRCm39) |
R1049T |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,941,338 (GRCm39) |
K412E |
probably damaging |
Het |
Cachd1 |
G |
A |
4: 100,809,202 (GRCm39) |
|
probably null |
Het |
Ccdc152 |
T |
G |
15: 3,330,643 (GRCm39) |
K11Q |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,401,735 (GRCm39) |
W232R |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,551,192 (GRCm39) |
P347L |
possibly damaging |
Het |
Cntn3 |
A |
G |
6: 102,314,288 (GRCm39) |
L142P |
probably damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,806,884 (GRCm39) |
M601K |
probably damaging |
Het |
D930048N14Rik |
G |
A |
11: 51,545,734 (GRCm39) |
D209N |
unknown |
Het |
Dcaf6 |
A |
T |
1: 165,164,332 (GRCm39) |
N814K |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,632,406 (GRCm39) |
D455V |
possibly damaging |
Het |
Fcna |
A |
C |
2: 25,514,956 (GRCm39) |
L301W |
possibly damaging |
Het |
Garin1b |
C |
T |
6: 29,323,902 (GRCm39) |
T209I |
probably benign |
Het |
Gdf9 |
T |
G |
11: 53,324,269 (GRCm39) |
C13G |
probably damaging |
Het |
Hells |
T |
A |
19: 38,933,858 (GRCm39) |
N226K |
probably damaging |
Het |
Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,564,153 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
Kirrel2 |
T |
C |
7: 30,150,305 (GRCm39) |
I508V |
probably benign |
Het |
Klhl38 |
T |
A |
15: 58,186,022 (GRCm39) |
I236F |
probably damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lamc1 |
A |
T |
1: 153,126,870 (GRCm39) |
C425* |
probably null |
Het |
Letm1 |
A |
G |
5: 33,918,213 (GRCm39) |
F311L |
probably damaging |
Het |
Lypd11 |
A |
T |
7: 24,422,173 (GRCm39) |
I192N |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,342,016 (GRCm39) |
V409A |
possibly damaging |
Het |
Mybpc1 |
C |
T |
10: 88,391,501 (GRCm39) |
C318Y |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,393,692 (GRCm39) |
Y1141C |
|
Het |
Ndufv2 |
T |
A |
17: 66,390,475 (GRCm39) |
D165V |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,110,123 (GRCm39) |
K303E |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,196,808 (GRCm39) |
|
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,342,897 (GRCm39) |
Q100R |
probably damaging |
Het |
Or2f2 |
A |
T |
6: 42,767,141 (GRCm39) |
H56L |
probably damaging |
Het |
Or5b118 |
A |
G |
19: 13,448,523 (GRCm39) |
N21S |
probably damaging |
Het |
Otof |
C |
T |
5: 30,546,001 (GRCm39) |
V451I |
possibly damaging |
Het |
Pask |
G |
A |
1: 93,253,191 (GRCm39) |
Q399* |
probably null |
Het |
Pbk |
T |
A |
14: 66,049,439 (GRCm39) |
F39I |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,374,753 (GRCm39) |
K1794R |
possibly damaging |
Het |
Pibf1 |
T |
C |
14: 99,424,069 (GRCm39) |
|
probably null |
Het |
Ppip5k2 |
G |
A |
1: 97,645,187 (GRCm39) |
T1089I |
probably damaging |
Het |
Ppp1cb |
T |
A |
5: 32,635,492 (GRCm39) |
F45L |
possibly damaging |
Het |
Pramel21 |
T |
G |
4: 143,342,741 (GRCm39) |
S283A |
possibly damaging |
Het |
Samd4 |
T |
C |
14: 47,301,728 (GRCm39) |
F344S |
probably damaging |
Het |
Slc2a13 |
C |
T |
15: 91,234,333 (GRCm39) |
M334I |
possibly damaging |
Het |
Slc37a1 |
C |
T |
17: 31,556,365 (GRCm39) |
A363V |
probably damaging |
Het |
Srcin1 |
A |
G |
11: 97,427,206 (GRCm39) |
L257P |
probably damaging |
Het |
Tarbp1 |
A |
G |
8: 127,173,880 (GRCm39) |
F945L |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,911,187 (GRCm39) |
|
probably null |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim62 |
G |
A |
4: 128,802,963 (GRCm39) |
V338M |
probably damaging |
Het |
Ttll9 |
C |
T |
2: 152,818,113 (GRCm39) |
H20Y |
possibly damaging |
Het |
Uevld |
A |
T |
7: 46,587,806 (GRCm39) |
I298N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,462,653 (GRCm39) |
E842G |
probably damaging |
Het |
Zdbf2 |
T |
G |
1: 63,346,296 (GRCm39) |
S1558R |
|
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 |
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'- ATGGATACCATGTGACAGGTTG -3'
(R):5'- CCTCCATGCACTTGTGGAAC -3'
Sequencing Primer
(F):5'- TACCATGTGACAGGTTGGCAGG -3'
(R):5'- CTTGTGGAACTAGGGCCAATTTGAAC -3'
|
Posted On |
2021-11-19 |