Incidental Mutation 'R5629:Slc8a3'
| ID |
442007 |
| 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 |
043280-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81197915-81333180 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81199631 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 883
(R883C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
| AlphaFold |
S4R2P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064594
AA Change: R882C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: R882C
| 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: R876C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: R876C
| 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: R883C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: R883C
| 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 |
probably benign
Transcript: ENSMUST00000182366
|
| SMART Domains |
Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LT9|A
|
1 |
52 |
2e-28 |
PDB |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 |
|---|
| Ablim2 |
G |
A |
5: 35,857,163 (GRCm38) |
D189N |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,798,133 (GRCm38) |
V1052D |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,007,847 (GRCm38) |
Y2077H |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,718,076 (GRCm38) |
K291N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,093,908 (GRCm38) |
I82N |
probably damaging |
Het |
| Art1 |
A |
G |
7: 102,107,079 (GRCm38) |
Q159R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,460,096 (GRCm38) |
V733A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,481,960 (GRCm38) |
|
probably null |
Het |
| Catsper1 |
C |
T |
19: 5,336,137 (GRCm38) |
P133S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,849,067 (GRCm38) |
D3165G |
probably benign |
Het |
| Cldn19 |
T |
A |
4: 119,256,919 (GRCm38) |
V86E |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,249,749 (GRCm38) |
D649E |
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,218 (GRCm38) |
I1094T |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,425,547 (GRCm38) |
|
probably benign |
Het |
| Ern2 |
T |
A |
7: 122,170,166 (GRCm38) |
H879L |
probably damaging |
Het |
| Etv4 |
T |
A |
11: 101,771,925 (GRCm38) |
H277L |
probably damaging |
Het |
| Faap100 |
G |
T |
11: 120,377,011 (GRCm38) |
A312D |
probably damaging |
Het |
| Glipr1l1 |
G |
A |
10: 112,078,403 (GRCm38) |
C223Y |
possibly damaging |
Het |
| Gna14 |
T |
C |
19: 16,436,733 (GRCm38) |
S14P |
possibly damaging |
Het |
| Hapln1 |
A |
G |
13: 89,601,515 (GRCm38) |
T60A |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,788,666 (GRCm38) |
Y273* |
probably null |
Het |
| Ighv5-6 |
A |
T |
12: 113,625,622 (GRCm38) |
Y79* |
probably null |
Het |
| Iqgap2 |
T |
A |
13: 95,632,174 (GRCm38) |
N1406I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,039,934 (GRCm38) |
T215A |
possibly damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,729,159 (GRCm38) |
S90R |
probably benign |
Het |
| Mettl8 |
T |
C |
2: 70,965,569 (GRCm38) |
I372V |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,561,510 (GRCm38) |
T341S |
possibly damaging |
Het |
| Mocos |
T |
A |
18: 24,664,085 (GRCm38) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,861,299 (GRCm38) |
S2661P |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,479,752 (GRCm38) |
P1113S |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,203,845 (GRCm38) |
I1540F |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,648,587 (GRCm38) |
Y287H |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,675,903 (GRCm38) |
F165L |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,722,682 (GRCm38) |
E102G |
probably damaging |
Het |
| Nrros |
T |
A |
16: 32,144,405 (GRCm38) |
I265F |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,590,032 (GRCm38) |
F891I |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,504,165 (GRCm38) |
Y169H |
probably damaging |
Het |
| Oas2 |
G |
A |
5: 120,738,451 (GRCm38) |
Q476* |
probably null |
Het |
| Or51f5 |
A |
T |
7: 102,774,640 (GRCm38) |
I39F |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 125,898,041 (GRCm38) |
W14L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 50,927,916 (GRCm38) |
H278R |
probably benign |
Het |
| Piwil2 |
C |
T |
14: 70,422,967 (GRCm38) |
V70M |
probably damaging |
Het |
| Prss23 |
A |
C |
7: 89,510,192 (GRCm38) |
V223G |
probably damaging |
Het |
| Rarres2 |
A |
T |
6: 48,570,260 (GRCm38) |
L122Q |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,983,710 (GRCm38) |
V776A |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,419,211 (GRCm38) |
Q1008* |
probably null |
Het |
| Robo4 |
G |
A |
9: 37,408,362 (GRCm38) |
C636Y |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,566,399 (GRCm38) |
M196V |
probably benign |
Het |
| Septin7 |
T |
A |
9: 25,288,293 (GRCm38) |
Y163N |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 113,012,979 (GRCm38) |
T594I |
possibly damaging |
Het |
| Slc23a1 |
T |
C |
18: 35,626,492 (GRCm38) |
H13R |
probably benign |
Het |
| Slc25a39 |
A |
C |
11: 102,404,893 (GRCm38) |
Y109* |
probably null |
Het |
| Spag17 |
A |
T |
3: 100,080,119 (GRCm38) |
Y1575F |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,596,785 (GRCm38) |
I321N |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,457,232 (GRCm38) |
P311S |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,290,120 (GRCm38) |
S203T |
probably benign |
Het |
| Taf3 |
A |
T |
2: 9,918,178 (GRCm38) |
I45N |
probably damaging |
Het |
| Taf7 |
T |
C |
18: 37,643,502 (GRCm38) |
N4S |
probably benign |
Het |
| Tial1 |
T |
A |
7: 128,444,697 (GRCm38) |
D87V |
probably damaging |
Het |
| Tmem120a |
T |
A |
5: 135,742,050 (GRCm38) |
E78V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,347,260 (GRCm38) |
F137L |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,487,929 (GRCm38) |
K23E |
possibly damaging |
Het |
| Ubxn7 |
C |
A |
16: 32,332,299 (GRCm38) |
H4Q |
unknown |
Het |
| Usp40 |
C |
T |
1: 87,981,009 (GRCm38) |
R590H |
probably benign |
Het |
| Vmn1r90 |
A |
G |
7: 14,562,086 (GRCm38) |
M22T |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,105,117 (GRCm38) |
V800M |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,356,376 (GRCm38) |
I313N |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 58,054,811 (GRCm38) |
V13A |
probably damaging |
Het |
| Zic4 |
G |
A |
9: 91,378,752 (GRCm38) |
R20H |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,582,879 (GRCm38) |
V369M |
probably damaging |
Het |
|
| Other mutations in Slc8a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Slc8a3
|
APN |
12 |
81,314,569 (GRCm38) |
missense |
probably benign |
|
|
IGL01315:Slc8a3
|
APN |
12 |
81,314,395 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01365:Slc8a3
|
APN |
12 |
81,315,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01610:Slc8a3
|
APN |
12 |
81,315,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02227:Slc8a3
|
APN |
12 |
81,315,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02299:Slc8a3
|
APN |
12 |
81,315,224 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02548:Slc8a3
|
APN |
12 |
81,204,156 (GRCm38) |
splice site |
probably benign |
|
|
IGL02646:Slc8a3
|
APN |
12 |
81,315,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03135:Slc8a3
|
APN |
12 |
81,202,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Slc8a3
|
UTSW |
12 |
81,315,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0627:Slc8a3
|
UTSW |
12 |
81,314,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0648:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1342:Slc8a3
|
UTSW |
12 |
81,316,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1437:Slc8a3
|
UTSW |
12 |
81,315,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1470:Slc8a3
|
UTSW |
12 |
81,199,710 (GRCm38) |
missense |
probably benign |
|
|
R1470:Slc8a3
|
UTSW |
12 |
81,199,710 (GRCm38) |
missense |
probably benign |
|
|
R1557:Slc8a3
|
UTSW |
12 |
81,315,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1563:Slc8a3
|
UTSW |
12 |
81,205,007 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1918:Slc8a3
|
UTSW |
12 |
81,314,844 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1930:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1931:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Slc8a3
|
UTSW |
12 |
81,315,220 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2680:Slc8a3
|
UTSW |
12 |
81,202,339 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2941:Slc8a3
|
UTSW |
12 |
81,315,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3157:Slc8a3
|
UTSW |
12 |
81,314,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3159:Slc8a3
|
UTSW |
12 |
81,314,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3751:Slc8a3
|
UTSW |
12 |
81,204,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3859:Slc8a3
|
UTSW |
12 |
81,314,872 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4240:Slc8a3
|
UTSW |
12 |
81,315,176 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4527:Slc8a3
|
UTSW |
12 |
81,315,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4547:Slc8a3
|
UTSW |
12 |
81,314,851 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4951:Slc8a3
|
UTSW |
12 |
81,315,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4951:Slc8a3
|
UTSW |
12 |
81,314,699 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5022:Slc8a3
|
UTSW |
12 |
81,199,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5049:Slc8a3
|
UTSW |
12 |
81,214,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Slc8a3
|
UTSW |
12 |
81,199,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5104:Slc8a3
|
UTSW |
12 |
81,214,134 (GRCm38) |
missense |
probably null |
0.34 |
|
R5122:Slc8a3
|
UTSW |
12 |
81,314,258 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5183:Slc8a3
|
UTSW |
12 |
81,314,491 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6062:Slc8a3
|
UTSW |
12 |
81,314,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6218:Slc8a3
|
UTSW |
12 |
81,199,567 (GRCm38) |
missense |
probably benign |
|
|
R6279:Slc8a3
|
UTSW |
12 |
81,314,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6300:Slc8a3
|
UTSW |
12 |
81,314,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6416:Slc8a3
|
UTSW |
12 |
81,315,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6790:Slc8a3
|
UTSW |
12 |
81,314,432 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6999:Slc8a3
|
UTSW |
12 |
81,314,755 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7195:Slc8a3
|
UTSW |
12 |
81,314,273 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7268:Slc8a3
|
UTSW |
12 |
81,315,053 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7288:Slc8a3
|
UTSW |
12 |
81,216,824 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7383:Slc8a3
|
UTSW |
12 |
81,315,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Slc8a3
|
UTSW |
12 |
81,314,803 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7394:Slc8a3
|
UTSW |
12 |
81,214,058 (GRCm38) |
splice site |
probably null |
|
|
R7549:Slc8a3
|
UTSW |
12 |
81,314,770 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7657:Slc8a3
|
UTSW |
12 |
81,314,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7699:Slc8a3
|
UTSW |
12 |
81,314,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7759:Slc8a3
|
UTSW |
12 |
81,314,551 (GRCm38) |
missense |
probably benign |
|
|
R7960:Slc8a3
|
UTSW |
12 |
81,216,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7985:Slc8a3
|
UTSW |
12 |
81,314,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8059:Slc8a3
|
UTSW |
12 |
81,202,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8192:Slc8a3
|
UTSW |
12 |
81,199,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8397:Slc8a3
|
UTSW |
12 |
81,199,768 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8413:Slc8a3
|
UTSW |
12 |
81,314,678 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8681:Slc8a3
|
UTSW |
12 |
81,315,140 (GRCm38) |
missense |
probably benign |
|
|
R9060:Slc8a3
|
UTSW |
12 |
81,214,078 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9061:Slc8a3
|
UTSW |
12 |
81,216,766 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9267:Slc8a3
|
UTSW |
12 |
81,314,434 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9416:Slc8a3
|
UTSW |
12 |
81,315,064 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9519:Slc8a3
|
UTSW |
12 |
81,315,552 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9531:Slc8a3
|
UTSW |
12 |
81,315,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Slc8a3
|
UTSW |
12 |
81,315,287 (GRCm38) |
missense |
probably benign |
0.22 |
|
X0028:Slc8a3
|
UTSW |
12 |
81,314,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc8a3
|
UTSW |
12 |
81,315,876 (GRCm38) |
missense |
probably benign |
0.13 |
|
Z1177:Slc8a3
|
UTSW |
12 |
81,314,700 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCGTCCTTCTCTCAGGAG -3'
(R):5'- ACGTGTATGCAGATGCTTCC -3'
Sequencing Primer
(F):5'- TCTCTCAGGAGAAGTCCCAG -3'
(R):5'- AGATGCTTCCATTGGCAACG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation