Incidental Mutation 'R1437:Slc8a3'
ID |
161316 |
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 |
039492-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1437 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81362760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 20
(T20S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064594
AA Change: T20S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: T20S
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 damaging
Transcript: ENSMUST00000085238
AA Change: T20S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: T20S
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: T20S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: T20S
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 |
noncoding transcript
Transcript: ENSMUST00000183102
|
Meta Mutation Damage Score |
0.0711 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,871,436 (GRCm39) |
V330E |
possibly damaging |
Het |
Abcb5 |
A |
G |
12: 118,838,497 (GRCm39) |
S1022P |
probably damaging |
Het |
Abcc8 |
A |
G |
7: 45,829,237 (GRCm39) |
I46T |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,222,109 (GRCm39) |
R275G |
probably damaging |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,763,026 (GRCm39) |
T761A |
unknown |
Het |
Asap1 |
A |
T |
15: 63,991,956 (GRCm39) |
L751Q |
probably damaging |
Het |
Atg2a |
C |
A |
19: 6,300,646 (GRCm39) |
P741H |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,243,675 (GRCm39) |
I46T |
possibly damaging |
Het |
BC049715 |
C |
A |
6: 136,817,090 (GRCm39) |
A110E |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 36,996,578 (GRCm39) |
H1097N |
possibly damaging |
Het |
Btbd7 |
T |
A |
12: 102,754,349 (GRCm39) |
T806S |
possibly damaging |
Het |
Cdk4 |
C |
A |
10: 126,900,558 (GRCm39) |
P108H |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,407,963 (GRCm39) |
T2391A |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,729,098 (GRCm39) |
A1281E |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,624,654 (GRCm39) |
I165F |
probably damaging |
Het |
Ctdp1 |
G |
T |
18: 80,493,428 (GRCm39) |
Q356K |
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,434,369 (GRCm39) |
M130T |
unknown |
Het |
Epha5 |
T |
G |
5: 84,381,555 (GRCm39) |
D432A |
probably damaging |
Het |
Esr1 |
ACGCCGCCGCCGCCGCCGCCGCCGCCGCC |
ACGCCGCCGCCGCCGCCGCCGCCGCC |
10: 4,662,571 (GRCm39) |
|
probably benign |
Het |
Fads2 |
A |
T |
19: 10,069,193 (GRCm39) |
L77Q |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,186,731 (GRCm39) |
H1723Q |
possibly damaging |
Het |
Fbxo42 |
C |
T |
4: 140,895,165 (GRCm39) |
H43Y |
probably benign |
Het |
Fry |
A |
G |
5: 150,233,890 (GRCm39) |
T121A |
possibly damaging |
Het |
Gpr156 |
T |
G |
16: 37,808,904 (GRCm39) |
S209A |
probably damaging |
Het |
Hey2 |
T |
C |
10: 30,709,845 (GRCm39) |
T303A |
probably benign |
Het |
Hivep1 |
T |
A |
13: 42,310,616 (GRCm39) |
M952K |
probably benign |
Het |
Hydin |
C |
T |
8: 111,308,617 (GRCm39) |
Q3968* |
probably null |
Het |
Jup |
T |
C |
11: 100,274,402 (GRCm39) |
E96G |
probably benign |
Het |
Kcnn1 |
A |
G |
8: 71,297,195 (GRCm39) |
I504T |
probably benign |
Het |
Klk1b9 |
T |
C |
7: 43,629,114 (GRCm39) |
V174A |
probably damaging |
Het |
Lama3 |
G |
C |
18: 12,682,284 (GRCm39) |
M1083I |
possibly damaging |
Het |
Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
Lrfn2 |
T |
C |
17: 49,378,253 (GRCm39) |
S445P |
probably damaging |
Het |
Lrp3 |
C |
A |
7: 34,912,595 (GRCm39) |
G31W |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,629,568 (GRCm39) |
L638P |
probably damaging |
Het |
Mief2 |
C |
T |
11: 60,621,769 (GRCm39) |
T113M |
probably benign |
Het |
Mrps2 |
T |
C |
2: 28,358,899 (GRCm39) |
F76S |
probably damaging |
Het |
Naca |
A |
G |
10: 127,878,048 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,355,099 (GRCm39) |
R336S |
probably damaging |
Het |
Nr1i3 |
CACTCAACACTAC |
CAC |
1: 171,044,710 (GRCm39) |
|
probably null |
Het |
Nr5a1 |
T |
A |
2: 38,600,685 (GRCm39) |
T29S |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,245,218 (GRCm39) |
I2V |
probably benign |
Het |
Or5as1 |
C |
T |
2: 86,980,115 (GRCm39) |
V297M |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,177,064 (GRCm39) |
F662S |
possibly damaging |
Het |
Pdcd4 |
G |
T |
19: 53,897,674 (GRCm39) |
A59S |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,103,888 (GRCm39) |
|
probably null |
Het |
Pkd1 |
T |
A |
17: 24,814,106 (GRCm39) |
S4159T |
probably damaging |
Het |
Plaat1 |
C |
A |
16: 29,046,922 (GRCm39) |
A147E |
possibly damaging |
Het |
Plch1 |
C |
A |
3: 63,604,954 (GRCm39) |
R1641L |
probably benign |
Het |
Plec |
G |
T |
15: 76,073,481 (GRCm39) |
P308Q |
probably damaging |
Het |
Pnkp |
A |
G |
7: 44,509,826 (GRCm39) |
S262G |
possibly damaging |
Het |
Pou2f1 |
A |
G |
1: 165,719,399 (GRCm39) |
V504A |
probably damaging |
Het |
Prepl |
G |
A |
17: 85,395,785 (GRCm39) |
R66W |
probably damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,167,396 (GRCm39) |
K226E |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,269,306 (GRCm39) |
F381L |
probably benign |
Het |
Sbsn |
C |
T |
7: 30,452,478 (GRCm39) |
Q498* |
probably null |
Het |
Scgb2b19 |
T |
C |
7: 32,977,980 (GRCm39) |
I106V |
probably benign |
Het |
Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
Sis |
T |
C |
3: 72,841,475 (GRCm39) |
H780R |
probably damaging |
Het |
Slc28a3 |
G |
T |
13: 58,706,389 (GRCm39) |
C617* |
probably null |
Het |
Slc44a1 |
T |
A |
4: 53,561,006 (GRCm39) |
V574D |
probably damaging |
Het |
Stt3b |
T |
A |
9: 115,083,995 (GRCm39) |
I394F |
probably damaging |
Het |
Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,148,890 (GRCm39) |
V47A |
probably benign |
Het |
Vmn2r114 |
A |
G |
17: 23,510,185 (GRCm39) |
F765S |
probably damaging |
Het |
Vps50 |
C |
T |
6: 3,517,852 (GRCm39) |
Q97* |
probably null |
Het |
Vsig10 |
A |
G |
5: 117,489,635 (GRCm39) |
Q467R |
probably damaging |
Het |
Wdsub1 |
T |
G |
2: 59,708,477 (GRCm39) |
Y11S |
probably damaging |
Het |
Zbtb11 |
T |
G |
16: 55,811,983 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCAGCAATGATAGACACCCCAAG -3'
(R):5'- AGTGGAGCTACAACTCAGGACTAGG -3'
Sequencing Primer
(F):5'- TAGACAATGACCCTGGCAATCTTG -3'
(R):5'- TTTCCAAGTGAGAGACTGCC -3'
|
Posted On |
2014-03-14 |