Incidental Mutation 'R7699:Slc8a3'
| ID |
647895 |
| 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 |
045760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 81361247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Tryptophan
at position 524
(L524W)
|
| 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: L524W
| 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: L524W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: L524W
| 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: L524W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: L524W
| 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 |
|
| Meta Mutation Damage Score |
0.2776 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,070,792 (GRCm39) |
P638T |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,319,674 (GRCm39) |
I1404N |
probably damaging |
Het |
| Cdc42se1 |
A |
G |
3: 95,139,908 (GRCm39) |
N35D |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,376,231 (GRCm39) |
S1447G |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,867,863 (GRCm39) |
H436L |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,217,326 (GRCm39) |
V605A |
probably benign |
Het |
| Col22a1 |
T |
A |
15: 71,845,700 (GRCm39) |
D354V |
probably damaging |
Het |
| Col25a1 |
T |
A |
3: 130,316,128 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,514,734 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,514,593 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,335 (GRCm39) |
S226T |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,499,162 (GRCm39) |
D68G |
probably benign |
Het |
| Dicer1 |
A |
C |
12: 104,671,429 (GRCm39) |
L947R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,590 (GRCm39) |
S89P |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,032 (GRCm39) |
K144E |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,082,181 (GRCm39) |
H94Q |
probably benign |
Het |
| Ep300 |
C |
T |
15: 81,470,594 (GRCm39) |
|
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,796,440 (GRCm39) |
I383T |
|
Het |
| Epo |
T |
A |
5: 137,483,438 (GRCm39) |
E5D |
probably benign |
Het |
| Esp15 |
G |
A |
17: 39,955,624 (GRCm39) |
V64I |
possibly damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,871,504 (GRCm39) |
V577E |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,113 (GRCm39) |
C223S |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,379 (GRCm39) |
I134N |
probably benign |
Het |
| Frmpd2 |
G |
T |
14: 33,264,895 (GRCm39) |
M891I |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,257 (GRCm39) |
I194V |
probably benign |
Het |
| Glt8d2 |
A |
C |
10: 82,498,122 (GRCm39) |
|
probably null |
Het |
| Gm12886 |
G |
C |
4: 121,273,876 (GRCm39) |
H113Q |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,120,494 (GRCm39) |
S345P |
probably damaging |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,646 (GRCm39) |
Y71* |
probably null |
Het |
| Il18bp |
A |
G |
7: 101,666,029 (GRCm39) |
W50R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,054,195 (GRCm39) |
I33K |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,654 (GRCm39) |
A2833T |
probably damaging |
Het |
| Manea |
T |
G |
4: 26,340,758 (GRCm39) |
N68T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,130,201 (GRCm39) |
L339P |
probably damaging |
Het |
| Mblac1 |
A |
C |
5: 138,192,919 (GRCm39) |
D87A |
probably damaging |
Het |
| Mmp24 |
C |
T |
2: 155,640,096 (GRCm39) |
T142I |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,950,261 (GRCm39) |
H531L |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,249,521 (GRCm39) |
I339F |
unknown |
Het |
| Naip2 |
G |
A |
13: 100,296,877 (GRCm39) |
T1053I |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,371,248 (GRCm39) |
|
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,529 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,841 (GRCm39) |
T117A |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,063,280 (GRCm39) |
F840L |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,373 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,915,142 (GRCm39) |
I133F |
|
Het |
| Plaur |
A |
G |
7: 24,173,692 (GRCm39) |
N221S |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,410,828 (GRCm39) |
T1068A |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,936,755 (GRCm39) |
D1659G |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,391,022 (GRCm39) |
M1357K |
probably benign |
Het |
| Prr36 |
G |
T |
8: 4,263,989 (GRCm39) |
T559N |
unknown |
Het |
| Prss46 |
A |
G |
9: 110,678,622 (GRCm39) |
M2V |
probably benign |
Het |
| Rbpms |
T |
A |
8: 34,354,391 (GRCm39) |
E51D |
probably damaging |
Het |
| Rere |
C |
T |
4: 150,701,555 (GRCm39) |
R328W |
|
Het |
| Retnla |
T |
A |
16: 48,663,176 (GRCm39) |
N26K |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,269,404 (GRCm39) |
V21I |
probably benign |
Het |
| Safb |
T |
A |
17: 56,908,504 (GRCm39) |
S598R |
unknown |
Het |
| Sertad4 |
A |
G |
1: 192,529,175 (GRCm39) |
S214P |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,017,938 (GRCm39) |
Q786* |
probably null |
Het |
| Sp3 |
T |
C |
2: 72,801,573 (GRCm39) |
T191A |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,103,724 (GRCm39) |
S93P |
probably damaging |
Het |
| Tbrg1 |
A |
C |
9: 37,560,771 (GRCm39) |
H368Q |
probably benign |
Het |
| Tinagl1 |
T |
G |
4: 130,061,832 (GRCm39) |
Q198H |
probably benign |
Het |
| Usp19 |
C |
T |
9: 108,373,371 (GRCm39) |
R648* |
probably null |
Het |
| Vmn2r124 |
A |
G |
17: 18,293,985 (GRCm39) |
M691V |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,536 (GRCm39) |
M682L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,811,975 (GRCm39) |
H3344L |
|
Het |
| Vwa3a |
G |
A |
7: 120,351,841 (GRCm39) |
G35E |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,754 (GRCm39) |
S2935G |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
C |
A |
17: 22,594,646 (GRCm39) |
Y377* |
probably null |
Het |
| Zfp952 |
A |
G |
17: 33,220,983 (GRCm39) |
K67R |
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 |
|
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 |
|
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'- ATATGCATCTTCAAAGTCCTCGC -3'
(R):5'- CACTGTGGTTCTGAAGCCAG -3'
Sequencing Primer
(F):5'- TCTTCAAAGTCCTCGCCACCAC -3'
(R):5'- ACCCAGAAGGAGTTCTCTGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation