Incidental Mutation 'R8397:Slc8a3'
ID |
647679 |
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 |
067760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8397 (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 G
at 81246542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 837
(I837T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: I836T
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: I830T
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: I830T
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: I837T
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: I837T
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
A |
G |
8: 95,767,141 (GRCm39) |
T499A |
probably benign |
Het |
Ahsa1 |
G |
T |
12: 87,320,451 (GRCm39) |
E311* |
probably null |
Het |
Apol9a |
C |
T |
15: 77,288,813 (GRCm39) |
V185I |
probably benign |
Het |
Arhgap27 |
T |
A |
11: 103,224,073 (GRCm39) |
D580V |
probably damaging |
Het |
Arpp21 |
A |
C |
9: 111,978,440 (GRCm39) |
S298A |
possibly damaging |
Het |
B4galnt2 |
T |
A |
11: 95,756,989 (GRCm39) |
T481S |
probably benign |
Het |
Cct8 |
G |
A |
16: 87,290,651 (GRCm39) |
R59C |
possibly damaging |
Het |
Cdhr5 |
C |
T |
7: 140,851,801 (GRCm39) |
G501E |
possibly damaging |
Het |
Chka |
G |
A |
19: 3,902,414 (GRCm39) |
|
probably null |
Het |
Cit |
C |
A |
5: 116,024,856 (GRCm39) |
N366K |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,796,391 (GRCm39) |
M806L |
probably benign |
Het |
Dhx9 |
T |
A |
1: 153,344,657 (GRCm39) |
H510L |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,209,966 (GRCm39) |
V305I |
probably benign |
Het |
Fbxo40 |
A |
T |
16: 36,790,985 (GRCm39) |
C42S |
probably damaging |
Het |
Fbxw26 |
T |
C |
9: 109,561,715 (GRCm39) |
M160V |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,560,562 (GRCm39) |
V1315A |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,231,464 (GRCm39) |
N374I |
possibly damaging |
Het |
Gm11992 |
T |
G |
11: 9,011,305 (GRCm39) |
S249A |
probably damaging |
Het |
Gm14418 |
T |
A |
2: 177,079,086 (GRCm39) |
Q303L |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,397,957 (GRCm39) |
P295Q |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,018,579 (GRCm39) |
N954D |
probably benign |
Het |
Klf15 |
C |
T |
6: 90,443,778 (GRCm39) |
H118Y |
probably damaging |
Het |
Lrit2 |
G |
T |
14: 36,791,034 (GRCm39) |
A238S |
probably damaging |
Het |
Man2c1 |
A |
C |
9: 57,042,783 (GRCm39) |
M218L |
probably benign |
Het |
Map3k1 |
T |
A |
13: 111,892,138 (GRCm39) |
H1039L |
probably damaging |
Het |
Map3k9 |
A |
G |
12: 81,769,136 (GRCm39) |
S971P |
probably benign |
Het |
Map4k3 |
C |
T |
17: 80,971,446 (GRCm39) |
V74I |
probably damaging |
Het |
Mars1 |
A |
T |
10: 127,136,368 (GRCm39) |
S486T |
possibly damaging |
Het |
Mettl13 |
A |
T |
1: 162,371,887 (GRCm39) |
S327R |
possibly damaging |
Het |
Mkks |
G |
A |
2: 136,722,923 (GRCm39) |
T78M |
possibly damaging |
Het |
Mst1 |
C |
T |
9: 107,958,698 (GRCm39) |
|
probably benign |
Het |
Myh1 |
G |
T |
11: 67,112,465 (GRCm39) |
A1811S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,241,113 (GRCm39) |
H830R |
possibly damaging |
Het |
Nek4 |
A |
G |
14: 30,692,505 (GRCm39) |
D443G |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,438,518 (GRCm39) |
L137P |
probably damaging |
Het |
Nipsnap3b |
T |
C |
4: 53,012,049 (GRCm39) |
|
probably null |
Het |
Nos1ap |
G |
T |
1: 170,155,194 (GRCm39) |
P220T |
unknown |
Het |
Nrxn3 |
T |
A |
12: 90,298,583 (GRCm39) |
I368N |
probably benign |
Het |
Nup133 |
T |
A |
8: 124,649,156 (GRCm39) |
Q562L |
probably benign |
Het |
Nup214 |
T |
A |
2: 31,880,266 (GRCm39) |
L342Q |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,163,232 (GRCm39) |
S264P |
probably damaging |
Het |
Or11g24 |
G |
T |
14: 50,662,137 (GRCm39) |
D54Y |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,395,927 (GRCm39) |
S567P |
probably benign |
Het |
Patl2 |
A |
C |
2: 121,955,754 (GRCm39) |
S261A |
probably damaging |
Het |
Pcdh15 |
C |
T |
10: 74,126,865 (GRCm39) |
P315S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,736,616 (GRCm39) |
H827Q |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,719,045 (GRCm39) |
L615F |
probably damaging |
Het |
Ppp1r12c |
T |
A |
7: 4,492,768 (GRCm39) |
H236L |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,439,675 (GRCm39) |
G384E |
probably benign |
Het |
Rmnd1 |
C |
A |
10: 4,377,278 (GRCm39) |
E134* |
probably null |
Het |
Rusc2 |
T |
A |
4: 43,424,206 (GRCm39) |
H1090Q |
possibly damaging |
Het |
Sema5b |
A |
C |
16: 35,471,691 (GRCm39) |
Y428S |
possibly damaging |
Het |
Slc2a8 |
T |
A |
2: 32,866,010 (GRCm39) |
I301L |
probably benign |
Het |
Slc38a11 |
C |
T |
2: 65,160,635 (GRCm39) |
V320M |
probably damaging |
Het |
Slc4a5 |
G |
T |
6: 83,266,308 (GRCm39) |
|
probably null |
Het |
Slc7a6 |
T |
C |
8: 106,920,165 (GRCm39) |
I320T |
probably damaging |
Het |
Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
Tlr3 |
A |
T |
8: 45,851,896 (GRCm39) |
F334I |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,217,290 (GRCm39) |
I530V |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,722 (GRCm39) |
D64G |
possibly damaging |
Het |
Zfp157 |
T |
A |
5: 138,454,518 (GRCm39) |
Y239N |
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 |
|
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 |
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'- CAGCGTGGCAAATAGTATGTAG -3'
(R):5'- AAAGGATGCTCATAAGGCCC -3'
Sequencing Primer
(F):5'- TCACAAAGAGCCATGTCGTG -3'
(R):5'- ATGCTCATAAGGCCCCGCTC -3'
|
Posted On |
2020-09-02 |