Incidental Mutation 'R5183:Slc8a3'
| ID |
397702 |
| 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 |
042762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5183 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81361265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 518
(V518A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
| AlphaFold |
S4R2P9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064594
AA Change: V518A
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: V518A
| 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 benign
Transcript: ENSMUST00000085238
AA Change: V518A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: V518A
| 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 benign
Transcript: ENSMUST00000182208
AA Change: V518A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: V518A
| 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 |
0.1208 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,171 (GRCm39) |
D8E |
probably damaging |
Het |
| Abca3 |
T |
G |
17: 24,593,427 (GRCm39) |
S275A |
probably benign |
Het |
| Adk |
A |
G |
14: 21,290,599 (GRCm39) |
N155S |
probably damaging |
Het |
| Aqp11 |
T |
C |
7: 97,386,963 (GRCm39) |
T78A |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,241,556 (GRCm39) |
V1455A |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,560,061 (GRCm39) |
I368F |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,371,835 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,759 (GRCm39) |
D2013G |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,408,558 (GRCm39) |
V1332A |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,299,832 (GRCm39) |
S1172P |
probably damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,235 (GRCm39) |
D155E |
probably benign |
Het |
| Coq7 |
T |
A |
7: 118,127,490 (GRCm39) |
|
probably benign |
Het |
| Dnase2a |
T |
C |
8: 85,636,207 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock6 |
C |
T |
9: 21,752,899 (GRCm39) |
V305I |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,699,708 (GRCm39) |
Q2288R |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,609 (GRCm39) |
N3594I |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,660,414 (GRCm39) |
M284T |
probably damaging |
Het |
| Gatm |
A |
T |
2: 122,425,984 (GRCm39) |
F422L |
probably benign |
Het |
| Glrp1 |
A |
T |
1: 88,437,574 (GRCm39) |
I12N |
unknown |
Het |
| Gm5455 |
T |
A |
13: 110,441,962 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
C |
T |
19: 55,071,659 (GRCm39) |
E361K |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,023 (GRCm39) |
T126A |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,218,368 (GRCm39) |
Q176L |
probably damaging |
Het |
| Htra1 |
C |
T |
7: 130,585,446 (GRCm39) |
A412V |
possibly damaging |
Het |
| Icosl |
C |
T |
10: 77,905,319 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,813 (GRCm39) |
T1509A |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,946 (GRCm39) |
E37G |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,395 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,406,977 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,101,125 (GRCm39) |
L1017S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,947 (GRCm39) |
Y898C |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,822,413 (GRCm39) |
S804R |
probably damaging |
Het |
| Miip |
A |
T |
4: 147,947,526 (GRCm39) |
F211L |
probably damaging |
Het |
| Moxd1 |
T |
G |
10: 24,155,445 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
G |
10: 24,163,034 (GRCm39) |
Y499D |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,207,577 (GRCm39) |
I24T |
probably benign |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,135,817 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,404,547 (GRCm39) |
D827E |
unknown |
Het |
| Myo1g |
G |
C |
11: 6,458,243 (GRCm39) |
L866V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,468,170 (GRCm39) |
M475L |
probably benign |
Het |
| Ncoa2 |
A |
C |
1: 13,244,590 (GRCm39) |
L703V |
probably damaging |
Het |
| Ncoa4-ps |
A |
C |
12: 119,225,023 (GRCm39) |
|
noncoding transcript |
Het |
| Nme6 |
T |
A |
9: 109,670,557 (GRCm39) |
Y69* |
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,397,714 (GRCm39) |
M651K |
probably benign |
Het |
| Or4k15c |
A |
C |
14: 50,322,003 (GRCm39) |
I45S |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,513,977 (GRCm39) |
S298R |
possibly damaging |
Het |
| Oscp1 |
A |
T |
4: 125,981,522 (GRCm39) |
E328V |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,838 (GRCm39) |
V1003A |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,559,507 (GRCm39) |
V1200A |
possibly damaging |
Het |
| Prl |
T |
C |
13: 27,241,579 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,351,232 (GRCm39) |
V575A |
probably benign |
Het |
| Rflna |
A |
T |
5: 125,088,469 (GRCm39) |
S139C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,539,038 (GRCm39) |
F27S |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,819,460 (GRCm39) |
S347P |
probably benign |
Het |
| Shmt1 |
A |
G |
11: 60,688,308 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,296,477 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,585,957 (GRCm39) |
V425A |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,785,357 (GRCm39) |
Y78N |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,211 (GRCm39) |
H273Q |
probably damaging |
Het |
| Tle6 |
T |
A |
10: 81,428,635 (GRCm39) |
N431I |
probably damaging |
Het |
| Trim34b |
C |
A |
7: 103,979,118 (GRCm39) |
Q122K |
possibly damaging |
Het |
| Trio |
C |
A |
15: 27,902,686 (GRCm39) |
R258S |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,600,306 (GRCm39) |
D23V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,810,525 (GRCm39) |
M1K |
probably null |
Het |
| Ufsp2 |
T |
C |
8: 46,447,126 (GRCm39) |
V391A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,815,334 (GRCm39) |
L990S |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,017,519 (GRCm39) |
M234I |
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 |
|
|
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 |
|
|
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'- ATGCATCTTCAAAGTCCTCGC -3'
(R):5'- AGGGCACTGTGGTTCTGAAG -3'
Sequencing Primer
(F):5'- TCTTCAAAGTCCTCGCCACCAC -3'
(R):5'- CACTGTGGTTCTGAAGCCAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation