Incidental Mutation 'IGL02548:Slc8a3'
ID |
297952 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc8a3
|
Ensembl Gene |
ENSMUSG00000079055 |
Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 3 |
Synonyms |
Ncx3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02548
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 81250930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138803
(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
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055
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 |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
G |
A |
7: 45,654,686 (GRCm39) |
A545V |
probably damaging |
Het |
Adam29 |
A |
T |
8: 56,325,902 (GRCm39) |
L184* |
probably null |
Het |
Ap1g1 |
C |
T |
8: 110,576,254 (GRCm39) |
A432V |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,814,202 (GRCm39) |
T716I |
probably damaging |
Het |
Bahd1 |
C |
A |
2: 118,747,526 (GRCm39) |
Q382K |
possibly damaging |
Het |
Barhl2 |
A |
G |
5: 106,603,391 (GRCm39) |
V256A |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,561,511 (GRCm39) |
F1113L |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,485,901 (GRCm39) |
T38K |
probably benign |
Het |
Cmtm3 |
T |
C |
8: 105,071,437 (GRCm39) |
L111P |
probably damaging |
Het |
Col27a1 |
T |
C |
4: 63,236,492 (GRCm39) |
|
probably benign |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Flt1 |
C |
A |
5: 147,576,058 (GRCm39) |
R650L |
probably benign |
Het |
Fpr1 |
T |
A |
17: 18,096,915 (GRCm39) |
E358V |
probably benign |
Het |
Ggnbp2 |
A |
T |
11: 84,753,112 (GRCm39) |
N42K |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,077,299 (GRCm39) |
T958A |
probably benign |
Het |
Gm3573 |
A |
G |
14: 42,009,452 (GRCm39) |
|
probably null |
Het |
Hspbp1 |
T |
C |
7: 4,684,840 (GRCm39) |
|
probably benign |
Het |
Jhy |
G |
T |
9: 40,828,471 (GRCm39) |
Y478* |
probably null |
Het |
Kiz |
A |
G |
2: 146,712,690 (GRCm39) |
E118G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,492 (GRCm39) |
Y144C |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,810,674 (GRCm39) |
Y848F |
probably benign |
Het |
Mixl1 |
T |
C |
1: 180,522,269 (GRCm39) |
E204G |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,305,594 (GRCm39) |
C202S |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,741,113 (GRCm39) |
S282G |
probably damaging |
Het |
Or2j6 |
T |
A |
7: 139,980,575 (GRCm39) |
Y128F |
probably damaging |
Het |
Or5b111 |
T |
C |
19: 13,291,302 (GRCm39) |
M116V |
probably damaging |
Het |
Or5k8 |
C |
A |
16: 58,644,691 (GRCm39) |
C127F |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,505,281 (GRCm39) |
|
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,545,743 (GRCm39) |
I273T |
probably benign |
Het |
Pdzph1 |
G |
A |
17: 59,280,386 (GRCm39) |
T632I |
probably benign |
Het |
Phf1 |
A |
G |
17: 27,154,600 (GRCm39) |
Y225C |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,770 (GRCm39) |
Y410F |
probably damaging |
Het |
Prcp |
T |
C |
7: 92,550,382 (GRCm39) |
F60L |
probably damaging |
Het |
Psg21 |
C |
T |
7: 18,388,961 (GRCm39) |
V44I |
possibly damaging |
Het |
Ptgdr |
C |
T |
14: 45,096,071 (GRCm39) |
V214M |
probably damaging |
Het |
Pth1r |
G |
A |
9: 110,556,748 (GRCm39) |
R181W |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,286,585 (GRCm39) |
I343M |
probably damaging |
Het |
Retreg1 |
C |
T |
15: 25,895,204 (GRCm39) |
Q128* |
probably null |
Het |
Rrbp1 |
T |
C |
2: 143,791,679 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
A |
4: 113,588,273 (GRCm39) |
M726L |
unknown |
Het |
Slc6a18 |
T |
C |
13: 73,818,114 (GRCm39) |
Y301C |
probably damaging |
Het |
Tacr3 |
C |
A |
3: 134,535,232 (GRCm39) |
Q67K |
probably damaging |
Het |
Tfrc |
A |
T |
16: 32,443,640 (GRCm39) |
K534* |
probably null |
Het |
Timp3 |
T |
A |
10: 86,174,315 (GRCm39) |
M67K |
probably benign |
Het |
Tmem120a |
C |
T |
5: 135,765,628 (GRCm39) |
E179K |
probably damaging |
Het |
Tomm40l |
G |
A |
1: 171,049,216 (GRCm39) |
|
probably benign |
Het |
Tubal3 |
A |
G |
13: 3,980,554 (GRCm39) |
R89G |
probably benign |
Het |
Wdr35 |
A |
T |
12: 9,074,297 (GRCm39) |
N976I |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,805,416 (GRCm39) |
T2543A |
probably damaging |
Het |
Zfp976 |
T |
A |
7: 42,261,953 (GRCm39) |
H628L |
unknown |
Het |
Zmynd8 |
A |
G |
2: 165,675,325 (GRCm39) |
V301A |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |