Incidental Mutation 'R1557:Slc8a3'
ID |
170366 |
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 |
039596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1557 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81362331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 163
(G163S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064594
AA Change: G163S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: G163S
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: G163S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: G163S
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: G163S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: G163S
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 |
0.6556 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
96% (75/78) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
C |
1: 53,221,025 (GRCm39) |
D68E |
possibly damaging |
Het |
Abca3 |
T |
C |
17: 24,618,954 (GRCm39) |
V870A |
possibly damaging |
Het |
Aldh3a2 |
A |
T |
11: 61,139,885 (GRCm39) |
F416I |
probably damaging |
Het |
Armc6 |
A |
T |
8: 70,678,098 (GRCm39) |
L77Q |
possibly damaging |
Het |
Asb17 |
A |
G |
3: 153,556,570 (GRCm39) |
I226V |
probably benign |
Het |
Aspm |
A |
G |
1: 139,396,406 (GRCm39) |
I862V |
probably benign |
Het |
Atr |
T |
A |
9: 95,753,502 (GRCm39) |
D701E |
probably damaging |
Het |
Baz1b |
C |
T |
5: 135,247,097 (GRCm39) |
L849F |
possibly damaging |
Het |
Cbr1 |
T |
C |
16: 93,405,677 (GRCm39) |
V97A |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,243,306 (GRCm39) |
Q1669* |
probably null |
Het |
Cfap54 |
T |
C |
10: 92,820,089 (GRCm39) |
T1242A |
possibly damaging |
Het |
Chrm3 |
T |
A |
13: 9,928,350 (GRCm39) |
T229S |
possibly damaging |
Het |
Cimip4 |
C |
A |
15: 78,270,474 (GRCm39) |
R98M |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,066 (GRCm39) |
Y300C |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,251,975 (GRCm39) |
I544L |
unknown |
Het |
Crocc |
T |
C |
4: 140,752,776 (GRCm39) |
E1208G |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
Dcbld2 |
T |
C |
16: 58,285,713 (GRCm39) |
I624T |
possibly damaging |
Het |
Ddah1 |
A |
C |
3: 145,597,227 (GRCm39) |
I258L |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,026,114 (GRCm39) |
Q3460* |
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,140,911 (GRCm39) |
D1372V |
probably damaging |
Het |
Egln1 |
G |
A |
8: 125,674,980 (GRCm39) |
R272* |
probably null |
Het |
Elf1 |
A |
G |
14: 79,804,620 (GRCm39) |
D95G |
possibly damaging |
Het |
Fkbp5 |
A |
G |
17: 28,621,729 (GRCm39) |
F374L |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,372,540 (GRCm39) |
|
probably benign |
Het |
Gabbr2 |
T |
C |
4: 46,846,436 (GRCm39) |
T158A |
probably damaging |
Het |
Gp2 |
A |
C |
7: 119,049,302 (GRCm39) |
Y412D |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,610,283 (GRCm39) |
V1462A |
possibly damaging |
Het |
Ide |
T |
C |
19: 37,258,160 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,134,648 (GRCm39) |
K372R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,067 (GRCm39) |
D243G |
possibly damaging |
Het |
Kif7 |
A |
G |
7: 79,363,905 (GRCm39) |
M1T |
probably null |
Het |
Klri2 |
A |
T |
6: 129,709,174 (GRCm39) |
L226Q |
probably damaging |
Het |
Kremen1 |
T |
C |
11: 5,165,373 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
C |
18: 12,646,788 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,908,581 (GRCm39) |
R336S |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,635,818 (GRCm39) |
D266E |
probably benign |
Het |
Lrrc28 |
C |
T |
7: 67,209,677 (GRCm39) |
R174H |
probably damaging |
Het |
Mib1 |
T |
A |
18: 10,798,474 (GRCm39) |
D778E |
probably damaging |
Het |
Msra |
T |
C |
14: 64,360,775 (GRCm39) |
I125V |
possibly damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,244 (GRCm39) |
F167L |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,964 (GRCm39) |
S67T |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,555 (GRCm39) |
V149E |
possibly damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,747 (GRCm39) |
F64S |
probably damaging |
Het |
Or6c75 |
C |
A |
10: 129,337,491 (GRCm39) |
T246N |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,955 (GRCm39) |
M163V |
possibly damaging |
Het |
Pes1 |
T |
A |
11: 3,926,824 (GRCm39) |
Y369N |
probably damaging |
Het |
Pgam2 |
T |
C |
11: 5,751,773 (GRCm39) |
D221G |
possibly damaging |
Het |
Prl2c5 |
T |
C |
13: 13,365,265 (GRCm39) |
V137A |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,814,914 (GRCm39) |
D721E |
possibly damaging |
Het |
Sass6 |
G |
T |
3: 116,412,381 (GRCm39) |
E385D |
possibly damaging |
Het |
Sema5a |
A |
G |
15: 32,460,418 (GRCm39) |
R60G |
probably benign |
Het |
Sesn1 |
T |
C |
10: 41,779,762 (GRCm39) |
S399P |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,067,398 (GRCm39) |
L47F |
probably damaging |
Het |
Slc10a2 |
C |
T |
8: 5,141,755 (GRCm39) |
V210M |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 46,212,234 (GRCm39) |
|
probably benign |
Het |
Speer4f1 |
T |
C |
5: 17,684,490 (GRCm39) |
W173R |
probably damaging |
Het |
Spon2 |
C |
A |
5: 33,374,108 (GRCm39) |
G92W |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,037,009 (GRCm39) |
|
probably benign |
Het |
Tfb1m |
A |
G |
17: 3,605,241 (GRCm39) |
V84A |
probably damaging |
Het |
Tmem18 |
G |
T |
12: 30,637,198 (GRCm39) |
|
probably null |
Het |
Tom1l1 |
A |
G |
11: 90,547,210 (GRCm39) |
L290S |
possibly damaging |
Het |
Tube1 |
T |
G |
10: 39,021,711 (GRCm39) |
|
probably null |
Het |
Ugt2b35 |
T |
A |
5: 87,155,156 (GRCm39) |
|
probably null |
Het |
Unc93b1 |
T |
A |
19: 3,992,403 (GRCm39) |
Y269N |
probably benign |
Het |
Usp16 |
T |
C |
16: 87,259,030 (GRCm39) |
|
probably null |
Het |
Vmn1r38 |
A |
T |
6: 66,753,370 (GRCm39) |
S249T |
probably benign |
Het |
Vmn1r42 |
T |
A |
6: 89,821,733 (GRCm39) |
M279L |
possibly damaging |
Het |
Zdhhc23 |
T |
A |
16: 43,791,829 (GRCm39) |
T315S |
possibly damaging |
Het |
Zfp472 |
T |
C |
17: 33,194,900 (GRCm39) |
F12L |
probably benign |
Het |
Zfr2 |
T |
C |
10: 81,083,225 (GRCm39) |
S634P |
probably benign |
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 |
|
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'- AAGAGCAGTCGCTTATCTGCCACC -3'
(R):5'- GTGACCATCAAGAAGCCCAATGGAG -3'
Sequencing Primer
(F):5'- GACTGCCAGGATCATATAGAGCC -3'
(R):5'- GCCCAATGGAGAGACCAGC -3'
|
Posted On |
2014-04-13 |