Incidental Mutation 'R7549:Slc8a3'
ID |
584412 |
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 |
045620-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7549 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81361544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 425
(I425K)
|
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: I425K
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
AA Change: I425K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: I425K
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: I425K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: I425K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Adam1b |
A |
G |
5: 121,639,981 (GRCm39) |
C355R |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,223,117 (GRCm39) |
L966P |
probably damaging |
Het |
Aldh18a1 |
A |
G |
19: 40,553,291 (GRCm39) |
C486R |
probably damaging |
Het |
Aqp11 |
C |
A |
7: 97,387,284 (GRCm39) |
|
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,178,961 (GRCm39) |
L350P |
probably damaging |
Het |
Art3 |
A |
G |
5: 92,551,514 (GRCm39) |
Q291R |
probably benign |
Het |
Asb15 |
A |
G |
6: 24,559,029 (GRCm39) |
|
probably null |
Het |
Bmp8b |
T |
C |
4: 122,999,448 (GRCm39) |
I102T |
possibly damaging |
Het |
Bsn |
T |
C |
9: 107,992,014 (GRCm39) |
D1246G |
probably benign |
Het |
Cass4 |
G |
A |
2: 172,268,718 (GRCm39) |
G267S |
probably benign |
Het |
Cass4 |
G |
T |
2: 172,268,719 (GRCm39) |
G267V |
probably benign |
Het |
Ccr7 |
T |
C |
11: 99,036,727 (GRCm39) |
Y65C |
probably damaging |
Het |
Clstn2 |
A |
C |
9: 97,464,597 (GRCm39) |
I186S |
probably benign |
Het |
Cyp2r1 |
A |
G |
7: 114,153,879 (GRCm39) |
I105T |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,687,262 (GRCm39) |
|
probably null |
Het |
Erg |
A |
C |
16: 95,170,179 (GRCm39) |
|
probably null |
Het |
Eya4 |
A |
T |
10: 22,987,557 (GRCm39) |
V524E |
probably damaging |
Het |
Farp1 |
C |
A |
14: 121,472,589 (GRCm39) |
N241K |
possibly damaging |
Het |
Fat1 |
A |
T |
8: 45,442,031 (GRCm39) |
Y1111F |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,185,947 (GRCm39) |
E1607G |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,153,536 (GRCm39) |
C2575* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,824,337 (GRCm39) |
D6690V |
probably damaging |
Het |
Fzd4 |
T |
C |
7: 89,056,346 (GRCm39) |
V131A |
possibly damaging |
Het |
Gfral |
T |
A |
9: 76,106,257 (GRCm39) |
N110I |
probably benign |
Het |
Glce |
T |
C |
9: 61,968,275 (GRCm39) |
D292G |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,266,500 (GRCm39) |
I1051K |
probably benign |
Het |
Gm5773 |
A |
T |
3: 93,680,323 (GRCm39) |
|
probably benign |
Het |
Hcn3 |
A |
T |
3: 89,057,307 (GRCm39) |
H430Q |
probably null |
Het |
Hspa8 |
T |
A |
9: 40,714,255 (GRCm39) |
|
probably null |
Het |
Ifna7 |
A |
T |
4: 88,734,664 (GRCm39) |
D67V |
possibly damaging |
Het |
Kif5c |
T |
A |
2: 49,591,105 (GRCm39) |
M319K |
probably benign |
Het |
Klk7 |
G |
T |
7: 43,462,197 (GRCm39) |
|
probably null |
Het |
Kmt2c |
T |
C |
5: 25,619,968 (GRCm39) |
K102E |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,765,134 (GRCm39) |
M2897I |
|
Het |
Lysmd2 |
T |
C |
9: 75,544,519 (GRCm39) |
S211P |
probably damaging |
Het |
Magi1 |
T |
G |
6: 93,685,095 (GRCm39) |
E761A |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,141,355 (GRCm39) |
I106N |
probably damaging |
Het |
Mdc1 |
G |
A |
17: 36,159,749 (GRCm39) |
A669T |
probably null |
Het |
Mmp1b |
A |
G |
9: 7,384,753 (GRCm39) |
I265T |
probably benign |
Het |
Mmp2 |
T |
A |
8: 93,563,594 (GRCm39) |
L356Q |
probably null |
Het |
Mroh8 |
A |
G |
2: 157,111,492 (GRCm39) |
L154P |
probably benign |
Het |
Muc13 |
T |
C |
16: 33,619,806 (GRCm39) |
S185P |
unknown |
Het |
Nuak1 |
T |
A |
10: 84,210,403 (GRCm39) |
I562F |
probably benign |
Het |
Obscn |
C |
A |
11: 58,933,664 (GRCm39) |
|
probably null |
Het |
Or51t4 |
T |
C |
7: 102,597,798 (GRCm39) |
I42T |
possibly damaging |
Het |
Or5w14 |
A |
T |
2: 87,542,115 (GRCm39) |
M45K |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,853 (GRCm39) |
M49V |
probably benign |
Het |
Pex3 |
T |
C |
10: 13,418,414 (GRCm39) |
M81V |
probably benign |
Het |
Pex5l |
T |
A |
3: 33,136,184 (GRCm39) |
I12F |
probably benign |
Het |
Phf3 |
G |
T |
1: 30,870,556 (GRCm39) |
T164N |
probably benign |
Het |
Phpt1 |
G |
T |
2: 25,464,844 (GRCm39) |
A3E |
probably benign |
Het |
Pja2 |
A |
T |
17: 64,616,410 (GRCm39) |
L162M |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,994 (GRCm39) |
K647N |
probably damaging |
Het |
Ppp2r1a |
T |
C |
17: 21,182,944 (GRCm39) |
S543P |
possibly damaging |
Het |
Prdm13 |
C |
A |
4: 21,679,072 (GRCm39) |
D473Y |
probably damaging |
Het |
Prl6a1 |
A |
T |
13: 27,502,954 (GRCm39) |
E183D |
probably damaging |
Het |
Psmd3 |
C |
T |
11: 98,581,787 (GRCm39) |
T304M |
probably benign |
Het |
Ptpn5 |
C |
T |
7: 46,735,874 (GRCm39) |
|
probably null |
Het |
Rassf6 |
T |
G |
5: 90,754,661 (GRCm39) |
I206L |
probably damaging |
Het |
Rif1 |
A |
G |
2: 51,968,519 (GRCm39) |
H234R |
possibly damaging |
Het |
Rint1 |
T |
C |
5: 24,020,702 (GRCm39) |
V575A |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,021,930 (GRCm39) |
T639I |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,752,871 (GRCm39) |
F1817L |
probably benign |
Het |
Ska1 |
T |
C |
18: 74,333,088 (GRCm39) |
D110G |
probably benign |
Het |
Slc25a41 |
G |
A |
17: 57,340,791 (GRCm39) |
T227I |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,224,998 (GRCm39) |
S29P |
probably benign |
Het |
Sox8 |
T |
A |
17: 25,786,935 (GRCm39) |
Q256L |
probably damaging |
Het |
Tars3 |
T |
C |
7: 65,297,341 (GRCm39) |
V152A |
probably damaging |
Het |
Tbx10 |
A |
T |
19: 4,046,651 (GRCm39) |
T44S |
probably benign |
Het |
Terb1 |
T |
A |
8: 105,224,716 (GRCm39) |
I52F |
possibly damaging |
Het |
Tes |
AGCCGGCC |
AGCC |
6: 17,099,740 (GRCm39) |
|
probably null |
Het |
Tgm1 |
A |
G |
14: 55,943,360 (GRCm39) |
V527A |
probably benign |
Het |
Tmed10 |
G |
T |
12: 85,391,036 (GRCm39) |
Y167* |
probably null |
Het |
Tmem165 |
T |
G |
5: 76,356,415 (GRCm39) |
S318R |
possibly damaging |
Het |
Trim9 |
G |
T |
12: 70,393,715 (GRCm39) |
S76R |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,849,088 (GRCm39) |
V717A |
probably damaging |
Het |
Vmn2r86 |
T |
A |
10: 130,282,697 (GRCm39) |
I640F |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,603,230 (GRCm39) |
N860S |
|
Het |
Xirp2 |
A |
G |
2: 67,339,241 (GRCm39) |
K494R |
possibly damaging |
Het |
Zkscan4 |
G |
A |
13: 21,668,419 (GRCm39) |
S319N |
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 |
R7394:Slc8a3
|
UTSW |
12 |
81,260,832 (GRCm39) |
splice site |
probably null |
|
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'- CAGCCTCACAAAGAAGTGTTC -3'
(R):5'- TGCTTTCTACCGCATCCAAG -3'
Sequencing Primer
(F):5'- AGTGTTCATCCTCCTCAAAAATGTC -3'
(R):5'- CTGGTGCGGGCAATATACTTAAG -3'
|
Posted On |
2019-10-17 |