Incidental Mutation 'R7383:Slc8a3'
ID |
572894 |
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 |
045465-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7383 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 81362579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 80
(Y80S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: Y80S
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: Y80S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: Y80S
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: Y80S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: Y80S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
T |
A |
11: 5,818,548 (GRCm39) |
I511N |
probably damaging |
Het |
Ap5m1 |
T |
G |
14: 49,311,653 (GRCm39) |
V241G |
possibly damaging |
Het |
BC049715 |
T |
A |
6: 136,817,453 (GRCm39) |
I231N |
probably damaging |
Het |
Bckdhb |
T |
G |
9: 83,835,766 (GRCm39) |
V90G |
possibly damaging |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Chd8 |
T |
C |
14: 52,452,776 (GRCm39) |
I1248V |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
Ckap4 |
A |
T |
10: 84,364,148 (GRCm39) |
V305E |
probably damaging |
Het |
Clasrp |
C |
A |
7: 19,319,198 (GRCm39) |
R489L |
unknown |
Het |
Col24a1 |
A |
G |
3: 145,004,599 (GRCm39) |
I26V |
probably benign |
Het |
Cort |
C |
T |
4: 149,209,861 (GRCm39) |
A64T |
possibly damaging |
Het |
Dmkn |
T |
A |
7: 30,464,793 (GRCm39) |
N255K |
unknown |
Het |
Dph2 |
A |
T |
4: 117,748,566 (GRCm39) |
L69Q |
probably damaging |
Het |
Fbxo11 |
A |
G |
17: 88,310,282 (GRCm39) |
I432T |
|
Het |
Fgd3 |
T |
C |
13: 49,421,785 (GRCm39) |
K531R |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,099 (GRCm39) |
K111E |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,859,537 (GRCm39) |
D206E |
probably benign |
Het |
Gtpbp1 |
T |
A |
15: 79,600,354 (GRCm39) |
L429Q |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,726,276 (GRCm39) |
F90S |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,098 (GRCm39) |
Q3112L |
unknown |
Het |
Hsd17b4 |
A |
C |
18: 50,297,917 (GRCm39) |
K402T |
probably benign |
Het |
Htr1f |
T |
C |
16: 64,747,206 (GRCm39) |
T29A |
probably benign |
Het |
Ikbkb |
C |
A |
8: 23,159,066 (GRCm39) |
A471S |
probably benign |
Het |
Inpp5f |
A |
G |
7: 128,296,310 (GRCm39) |
D887G |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,316,411 (GRCm39) |
L805P |
probably damaging |
Het |
Jmjd1c |
A |
T |
10: 67,025,537 (GRCm39) |
N118I |
probably benign |
Het |
Kif26b |
T |
G |
1: 178,358,275 (GRCm39) |
C129G |
probably damaging |
Het |
Mga |
G |
A |
2: 119,790,821 (GRCm39) |
A2236T |
probably damaging |
Het |
Micu2 |
T |
C |
14: 58,154,810 (GRCm39) |
Q405R |
possibly damaging |
Het |
Myo1e |
T |
A |
9: 70,204,577 (GRCm39) |
V59D |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,552,532 (GRCm39) |
I1770T |
probably damaging |
Het |
Ndufa10 |
A |
T |
1: 92,392,183 (GRCm39) |
I190N |
probably damaging |
Het |
Niban3 |
A |
C |
8: 72,056,470 (GRCm39) |
E390A |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,474,078 (GRCm39) |
H623Q |
probably benign |
Het |
Npc1l1 |
T |
C |
11: 6,167,777 (GRCm39) |
T1005A |
probably benign |
Het |
Or10ag58 |
A |
G |
2: 87,265,721 (GRCm39) |
S297G |
possibly damaging |
Het |
Or14c39 |
A |
T |
7: 86,343,960 (GRCm39) |
I99F |
probably damaging |
Het |
Or1e22 |
A |
G |
11: 73,376,715 (GRCm39) |
*312Q |
probably null |
Het |
Or2b4 |
A |
G |
17: 38,116,972 (GRCm39) |
K312R |
probably benign |
Het |
Or2w3 |
T |
C |
11: 58,557,011 (GRCm39) |
S209P |
possibly damaging |
Het |
Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
Or8s8 |
C |
G |
15: 98,354,578 (GRCm39) |
P129R |
probably damaging |
Het |
Pafah1b2 |
C |
T |
9: 45,880,147 (GRCm39) |
G177R |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,300,317 (GRCm39) |
S521P |
unknown |
Het |
Plpp2 |
A |
T |
10: 79,366,841 (GRCm39) |
L25Q |
probably null |
Het |
Plxna4 |
A |
G |
6: 32,129,734 (GRCm39) |
|
probably null |
Het |
Ppl |
G |
T |
16: 4,915,835 (GRCm39) |
P576Q |
probably damaging |
Het |
Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
Rbfox1 |
G |
A |
16: 6,887,899 (GRCm39) |
G13S |
probably benign |
Het |
Rhot1 |
C |
G |
11: 80,114,760 (GRCm39) |
P56R |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,174,385 (GRCm39) |
W1298R |
probably damaging |
Het |
Slc16a14 |
G |
A |
1: 84,890,292 (GRCm39) |
H338Y |
probably damaging |
Het |
Slco6c1 |
A |
T |
1: 97,003,608 (GRCm39) |
Y513* |
probably null |
Het |
Smarcd2 |
A |
G |
11: 106,155,602 (GRCm39) |
C405R |
probably damaging |
Het |
Szt2 |
G |
A |
4: 118,222,411 (GRCm39) |
R3198* |
probably null |
Het |
Tmeff1 |
T |
A |
4: 48,636,841 (GRCm39) |
C180S |
probably damaging |
Het |
Tmem132a |
A |
T |
19: 10,844,358 (GRCm39) |
M80K |
probably benign |
Het |
Tnfsf12 |
A |
G |
11: 69,577,892 (GRCm39) |
V175A |
probably damaging |
Het |
Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
Togaram2 |
A |
T |
17: 72,007,512 (GRCm39) |
I354F |
probably damaging |
Het |
Uchl5 |
T |
A |
1: 143,659,753 (GRCm39) |
S42R |
probably benign |
Het |
Virma |
C |
A |
4: 11,514,026 (GRCm39) |
L627I |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,240,684 (GRCm39) |
I143K |
probably benign |
Het |
Vmn2r95 |
T |
G |
17: 18,660,734 (GRCm39) |
V382G |
probably benign |
Het |
Wipf3 |
G |
T |
6: 54,462,263 (GRCm39) |
A158S |
probably benign |
Het |
Ylpm1 |
T |
G |
12: 85,091,242 (GRCm39) |
S1809A |
possibly damaging |
Het |
Zdhhc5 |
A |
T |
2: 84,524,748 (GRCm39) |
C191S |
probably benign |
Het |
Zer1 |
G |
A |
2: 30,001,253 (GRCm39) |
R84C |
probably damaging |
Het |
Zfhx2 |
A |
T |
14: 55,305,710 (GRCm39) |
V991D |
probably benign |
Het |
Zscan4b |
C |
A |
7: 10,637,960 (GRCm39) |
M61I |
possibly damaging |
Het |
Zswim2 |
A |
T |
2: 83,745,672 (GRCm39) |
S589T |
possibly 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 |
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'- TCACCAGCAATGAACCCGTG -3'
(R):5'- CTTCCTGAATTGTCTTCGAGCAG -3'
Sequencing Primer
(F):5'- ATCTCTGGAGCAGAAGAGCCC -3'
(R):5'- GAGGCTGGTGACTCGGG -3'
|
Posted On |
2019-09-13 |