Incidental Mutation 'R4951:Slc8a3'
ID |
382002 |
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 |
042548-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4951 (G1)
|
Quality Score |
225 |
Status
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
98% (94/96) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
G |
A |
11: 7,088,336 (GRCm39) |
E452K |
possibly damaging |
Het |
Adcy10 |
T |
C |
1: 165,391,532 (GRCm39) |
L1263P |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,731,874 (GRCm39) |
V179M |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,537,225 (GRCm39) |
V77E |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,995,199 (GRCm39) |
K5494N |
probably damaging |
Het |
Arhgap19 |
A |
G |
19: 41,762,545 (GRCm39) |
M437T |
probably benign |
Het |
C2cd4c |
C |
A |
10: 79,448,839 (GRCm39) |
A103S |
possibly damaging |
Het |
Clip1 |
A |
T |
5: 123,768,408 (GRCm39) |
D776E |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,145,986 (GRCm39) |
V952M |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
Crtac1 |
C |
T |
19: 42,402,570 (GRCm39) |
A13T |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,469,899 (GRCm39) |
A363T |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,890,547 (GRCm39) |
V241A |
probably benign |
Het |
Dysf |
T |
C |
6: 84,091,102 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
T |
10: 24,674,175 (GRCm39) |
M375K |
probably damaging |
Het |
Fam13c |
G |
A |
10: 70,387,621 (GRCm39) |
|
probably null |
Het |
Ftcd |
C |
T |
10: 76,420,517 (GRCm39) |
A417V |
probably benign |
Het |
Gak |
A |
G |
5: 108,730,584 (GRCm39) |
S941P |
probably benign |
Het |
Ganc |
A |
G |
2: 120,286,528 (GRCm39) |
T786A |
probably benign |
Het |
Gfi1 |
A |
C |
5: 107,868,009 (GRCm39) |
S420A |
probably damaging |
Het |
Ghsr |
A |
T |
3: 27,426,510 (GRCm39) |
T189S |
possibly damaging |
Het |
Glb1l |
C |
T |
1: 75,185,019 (GRCm39) |
G122D |
probably damaging |
Het |
Gm10065 |
C |
T |
13: 21,663,421 (GRCm39) |
S64N |
unknown |
Het |
Gm5087 |
C |
A |
14: 13,158,749 (GRCm38) |
|
noncoding transcript |
Het |
Gm973 |
G |
A |
1: 59,580,633 (GRCm39) |
|
probably null |
Het |
Gm9930 |
A |
T |
10: 9,410,449 (GRCm39) |
|
noncoding transcript |
Het |
H6pd |
A |
T |
4: 150,066,044 (GRCm39) |
Y781N |
probably damaging |
Het |
Ide |
G |
A |
19: 37,262,631 (GRCm39) |
L695F |
unknown |
Het |
Il17re |
T |
A |
6: 113,445,868 (GRCm39) |
V393E |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,621 (GRCm39) |
V205A |
probably benign |
Het |
Lipo5 |
C |
T |
19: 33,446,251 (GRCm39) |
E49K |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,927,335 (GRCm39) |
M306K |
possibly damaging |
Het |
Lrig1 |
A |
G |
6: 94,640,959 (GRCm39) |
L82P |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,366,332 (GRCm39) |
C256S |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,568,935 (GRCm39) |
I1262K |
unknown |
Het |
Mctp1 |
C |
T |
13: 76,975,894 (GRCm39) |
P756S |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,707,459 (GRCm39) |
W1583R |
probably damaging |
Het |
Mis12 |
T |
A |
11: 70,916,473 (GRCm39) |
Y169N |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Msh5 |
G |
A |
17: 35,257,396 (GRCm39) |
Q333* |
probably null |
Het |
Necap2 |
A |
T |
4: 140,799,834 (GRCm39) |
|
probably null |
Het |
Nfatc2 |
T |
C |
2: 168,412,992 (GRCm39) |
D211G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,726 (GRCm39) |
V906A |
possibly damaging |
Het |
Or2ak7 |
G |
A |
11: 58,575,589 (GRCm39) |
V297I |
probably damaging |
Het |
Or4a2 |
T |
A |
2: 89,248,116 (GRCm39) |
I214F |
probably benign |
Het |
Or4l1 |
A |
T |
14: 50,166,515 (GRCm39) |
L162* |
probably null |
Het |
Or5b125-ps1 |
A |
T |
19: 13,056,620 (GRCm39) |
|
noncoding transcript |
Het |
Or8g24 |
A |
G |
9: 38,989,555 (GRCm39) |
F162S |
probably benign |
Het |
Pate5 |
A |
G |
9: 35,750,732 (GRCm39) |
V30A |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,397,287 (GRCm39) |
N2057K |
possibly damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,639,474 (GRCm39) |
K1078R |
possibly damaging |
Het |
Prdm11 |
A |
G |
2: 92,810,954 (GRCm39) |
I215T |
probably damaging |
Het |
Ptpn13 |
C |
T |
5: 103,735,912 (GRCm39) |
P2137L |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,974,998 (GRCm39) |
|
probably null |
Het |
Rnf17 |
T |
C |
14: 56,759,848 (GRCm39) |
V1551A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,271,183 (GRCm39) |
V391I |
probably benign |
Het |
Rps6ka2 |
A |
T |
17: 7,560,188 (GRCm39) |
D542V |
probably damaging |
Het |
Sema4g |
A |
G |
19: 44,985,010 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
G |
13: 33,850,366 (GRCm39) |
S64R |
probably benign |
Het |
Serpine1 |
C |
T |
5: 137,098,205 (GRCm39) |
R156K |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,639,752 (GRCm39) |
I713T |
possibly damaging |
Het |
Slamf7 |
A |
G |
1: 171,466,693 (GRCm39) |
F171L |
probably benign |
Het |
Slc15a5 |
A |
G |
6: 138,050,064 (GRCm39) |
L117S |
probably damaging |
Het |
Smc2 |
G |
A |
4: 52,462,926 (GRCm39) |
V639M |
possibly damaging |
Het |
Sra1 |
A |
T |
18: 36,809,494 (GRCm39) |
C223* |
probably null |
Het |
Srgap1 |
A |
T |
10: 121,621,457 (GRCm39) |
M1012K |
probably benign |
Het |
Stk-ps2 |
A |
T |
1: 46,068,602 (GRCm39) |
|
noncoding transcript |
Het |
Taar6 |
A |
T |
10: 23,861,106 (GRCm39) |
S147T |
probably benign |
Het |
Taf15 |
G |
A |
11: 83,375,637 (GRCm39) |
G34D |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,174,184 (GRCm39) |
E874G |
possibly damaging |
Het |
Tob2 |
T |
C |
15: 81,735,924 (GRCm39) |
Y15C |
probably damaging |
Het |
Trim12a |
A |
G |
7: 103,953,565 (GRCm39) |
V182A |
possibly damaging |
Het |
Trim67 |
A |
G |
8: 125,521,406 (GRCm39) |
E256G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,742,530 (GRCm39) |
S1382T |
possibly damaging |
Het |
Ttc39d |
T |
A |
17: 80,523,462 (GRCm39) |
S40R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,779,406 (GRCm39) |
V1158E |
probably benign |
Het |
Vmn1r19 |
C |
T |
6: 57,381,927 (GRCm39) |
T160I |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,752,300 (GRCm39) |
I781T |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,113 (GRCm39) |
E408G |
probably damaging |
Het |
Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
Wdr27 |
A |
T |
17: 15,096,395 (GRCm39) |
D796E |
probably damaging |
Het |
Zfp365 |
C |
T |
10: 67,725,821 (GRCm39) |
|
probably null |
Het |
Zfp9 |
T |
G |
6: 118,441,408 (GRCm39) |
H418P |
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 |
81,361,473 (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'- TGACCCTGGCAATCTTGTC -3'
(R):5'- GTGCCATATGTCAATCGAGGTG -3'
Sequencing Primer
(F):5'- TGGCAATCTTGTCCCCAAGG -3'
(R):5'- TCGAGGTGAACCATCCATTTG -3'
|
Posted On |
2016-04-27 |