Incidental Mutation 'R0648:Slc8a3'
ID |
57362 |
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 |
038833-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0648 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 81361220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 533
(T533N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064594
AA Change: T533N
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: T533N
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: T533N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: T533N
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: T533N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: T533N
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 |
0.1133 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (80/80) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,184,632 (GRCm39) |
V1009A |
possibly damaging |
Het |
Acta2 |
T |
C |
19: 34,225,934 (GRCm39) |
I87V |
probably benign |
Het |
Arid1a |
A |
G |
4: 133,412,515 (GRCm39) |
Y1560H |
unknown |
Het |
Bcor |
C |
T |
X: 11,925,290 (GRCm39) |
R102Q |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,232,057 (GRCm39) |
D179E |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,095,723 (GRCm39) |
S1792P |
possibly damaging |
Het |
Ccdc18 |
T |
A |
5: 108,283,426 (GRCm39) |
S46T |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,322,853 (GRCm39) |
Q651P |
probably damaging |
Het |
Cdc73 |
T |
C |
1: 143,571,200 (GRCm39) |
T80A |
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,993,337 (GRCm39) |
|
probably benign |
Het |
Cenpe |
G |
A |
3: 134,935,843 (GRCm39) |
G426D |
probably damaging |
Het |
Cenpt |
A |
G |
8: 106,571,592 (GRCm39) |
V487A |
probably damaging |
Het |
Clec2m |
A |
G |
6: 129,307,932 (GRCm39) |
F46L |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,296,892 (GRCm39) |
P84S |
unknown |
Het |
Dennd2d |
A |
G |
3: 106,407,871 (GRCm39) |
I450M |
probably damaging |
Het |
Dhps |
C |
A |
8: 85,799,911 (GRCm39) |
|
probably null |
Het |
Ebf1 |
A |
T |
11: 44,882,337 (GRCm39) |
H431L |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,817,265 (GRCm39) |
|
probably benign |
Het |
Egflam |
T |
C |
15: 7,237,190 (GRCm39) |
H990R |
probably damaging |
Het |
Ercc6l2 |
A |
G |
13: 63,992,459 (GRCm39) |
T303A |
probably benign |
Het |
Fam167b |
T |
C |
4: 129,472,150 (GRCm39) |
K7E |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,450,049 (GRCm39) |
I67V |
probably benign |
Het |
Fhip1a |
A |
C |
3: 85,637,921 (GRCm39) |
V126G |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,636,744 (GRCm39) |
V2045D |
possibly damaging |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,047 (GRCm39) |
N154Y |
probably benign |
Het |
H2bc21 |
A |
G |
3: 96,128,851 (GRCm39) |
S124G |
probably benign |
Het |
Haus8 |
C |
A |
8: 71,709,174 (GRCm39) |
G79V |
probably damaging |
Het |
Hdgfl1 |
A |
T |
13: 26,953,836 (GRCm39) |
L79Q |
probably damaging |
Het |
Impdh2 |
T |
C |
9: 108,440,665 (GRCm39) |
Y83H |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,865,372 (GRCm39) |
T2929A |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,536,307 (GRCm39) |
S199P |
probably benign |
Het |
Moap1 |
T |
C |
12: 102,708,776 (GRCm39) |
T258A |
probably benign |
Het |
Mrps35 |
C |
A |
6: 146,957,443 (GRCm39) |
S156* |
probably null |
Het |
Mrtfa |
A |
G |
15: 80,901,121 (GRCm39) |
S457P |
probably damaging |
Het |
Mtbp |
C |
T |
15: 55,466,597 (GRCm39) |
P537S |
probably benign |
Het |
Ncstn |
C |
A |
1: 171,895,454 (GRCm39) |
V565F |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,407,474 (GRCm39) |
N1536S |
possibly damaging |
Het |
Nkain4 |
T |
C |
2: 180,584,905 (GRCm39) |
Q103R |
possibly damaging |
Het |
Nsun2 |
T |
A |
13: 69,775,706 (GRCm39) |
N383K |
probably damaging |
Het |
Or13p4 |
C |
T |
4: 118,547,269 (GRCm39) |
V127I |
probably benign |
Het |
Or6c33 |
A |
G |
10: 129,853,350 (GRCm39) |
N40S |
probably damaging |
Het |
Parp1 |
C |
T |
1: 180,428,005 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,911 (GRCm39) |
R4125H |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,970,962 (GRCm39) |
I269V |
possibly damaging |
Het |
Polr1f |
C |
T |
12: 33,487,999 (GRCm39) |
Q305* |
probably null |
Het |
Ppp1r36dn |
A |
G |
12: 76,498,070 (GRCm39) |
|
noncoding transcript |
Het |
Qrich1 |
T |
A |
9: 108,422,076 (GRCm39) |
N563K |
probably damaging |
Het |
Rab3il1 |
TGAAG |
TGAAGAAG |
19: 10,004,752 (GRCm39) |
|
probably benign |
Het |
Rell1 |
G |
A |
5: 64,082,088 (GRCm39) |
T271M |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,412,016 (GRCm39) |
|
probably null |
Het |
Rph3a |
C |
T |
5: 121,097,333 (GRCm39) |
R261H |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,739,219 (GRCm39) |
M2161K |
possibly damaging |
Het |
Scaf11 |
T |
C |
15: 96,316,339 (GRCm39) |
N1075S |
possibly damaging |
Het |
Serpina3j |
A |
G |
12: 104,280,938 (GRCm39) |
D37G |
probably benign |
Het |
Siah2 |
A |
G |
3: 58,583,635 (GRCm39) |
V217A |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,810,045 (GRCm39) |
D506G |
probably benign |
Het |
Skap2 |
A |
C |
6: 51,856,765 (GRCm39) |
V279G |
probably benign |
Het |
Slc9a7 |
A |
T |
X: 20,028,659 (GRCm39) |
|
probably benign |
Het |
Snai3 |
G |
T |
8: 123,181,733 (GRCm39) |
F241L |
probably damaging |
Het |
Speg |
T |
C |
1: 75,404,622 (GRCm39) |
S2805P |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,132,864 (GRCm39) |
|
probably benign |
Het |
Tctn1 |
C |
T |
5: 122,389,761 (GRCm39) |
E254K |
probably benign |
Het |
Tdrd3 |
C |
T |
14: 87,709,618 (GRCm39) |
T100M |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,215 (GRCm39) |
V132A |
probably benign |
Het |
Thbs3 |
A |
G |
3: 89,123,972 (GRCm39) |
|
probably null |
Het |
Tigit |
T |
A |
16: 43,482,401 (GRCm39) |
Y111F |
probably damaging |
Het |
Tmem245 |
A |
G |
4: 56,906,270 (GRCm39) |
I148T |
probably benign |
Het |
Tmem97 |
A |
G |
11: 78,441,365 (GRCm39) |
Y39H |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,839,474 (GRCm39) |
|
probably null |
Het |
Trp53bp1 |
A |
G |
2: 121,066,188 (GRCm39) |
V846A |
probably benign |
Het |
Tulp2 |
T |
G |
7: 45,169,210 (GRCm39) |
I259S |
probably damaging |
Het |
Ubxn1 |
G |
A |
19: 8,851,612 (GRCm39) |
R215H |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,460 (GRCm39) |
F253L |
probably damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,143,782 (GRCm39) |
M723V |
probably benign |
Het |
Xndc1 |
T |
C |
7: 101,728,031 (GRCm39) |
V14A |
possibly damaging |
Het |
Xpnpep1 |
A |
G |
19: 52,986,294 (GRCm39) |
|
probably benign |
Het |
Yes1 |
T |
A |
5: 32,812,862 (GRCm39) |
M322K |
possibly damaging |
Het |
Zdhhc14 |
C |
A |
17: 5,543,877 (GRCm39) |
N52K |
probably benign |
Het |
Zfp42 |
A |
G |
8: 43,749,015 (GRCm39) |
V162A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTCTGCTGATCCCTCATACCTG -3'
(R):5'- GGCTGAGCAATGTCCGTGTAGAAG -3'
Sequencing Primer
(F):5'- CTGATCCCTCATACCTGTGATGAAAG -3'
(R):5'- TGTCCGTGTAGAAGAGGAGC -3'
|
Posted On |
2013-07-11 |