Incidental Mutation 'R5049:Slc8a3'
ID |
394542 |
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 |
042639-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5049 (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 81260906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 608
(Y608H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064594
AA Change: Y608H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: Y608H
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: Y608H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: Y608H
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
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183102
|
Meta Mutation Damage Score |
0.3237 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.8%
- 20x: 90.4%
|
Validation Efficiency |
97% (89/92) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,321,698 (GRCm39) |
S76P |
probably damaging |
Het |
Acot8 |
A |
G |
2: 164,641,610 (GRCm39) |
|
probably benign |
Het |
Angptl7 |
A |
G |
4: 148,582,468 (GRCm39) |
F143L |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,686 (GRCm39) |
T283A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,094,655 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,095,539 (GRCm39) |
M1016T |
probably damaging |
Het |
Brd3 |
G |
T |
2: 27,340,589 (GRCm39) |
|
probably benign |
Het |
C130026L21Rik |
T |
A |
5: 111,729,702 (GRCm39) |
|
noncoding transcript |
Het |
Cbr4 |
T |
G |
8: 61,948,238 (GRCm39) |
|
probably null |
Het |
Ccl19 |
A |
G |
4: 42,756,268 (GRCm39) |
|
probably null |
Het |
Ccl2 |
G |
T |
11: 81,927,333 (GRCm39) |
C34F |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,456,852 (GRCm39) |
T873S |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,338,992 (GRCm39) |
N3118S |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,478,488 (GRCm39) |
T451A |
probably damaging |
Het |
Epb41l1 |
C |
A |
2: 156,366,859 (GRCm39) |
P564Q |
possibly damaging |
Het |
Extl3 |
A |
T |
14: 65,313,481 (GRCm39) |
M567K |
probably benign |
Het |
Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
Foxf2 |
T |
C |
13: 31,811,158 (GRCm39) |
S366P |
probably benign |
Het |
Gamt |
T |
A |
10: 80,094,788 (GRCm39) |
T186S |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,744,730 (GRCm39) |
M1642K |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Golga1 |
A |
T |
2: 38,937,747 (GRCm39) |
M115K |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,661,073 (GRCm39) |
D183E |
probably damaging |
Het |
Herc3 |
A |
G |
6: 58,871,524 (GRCm39) |
|
probably null |
Het |
Hes2 |
C |
A |
4: 152,244,331 (GRCm39) |
L39I |
possibly damaging |
Het |
Hopx |
C |
A |
5: 77,242,899 (GRCm39) |
|
probably benign |
Het |
Idi1 |
C |
T |
13: 8,938,078 (GRCm39) |
P175S |
probably damaging |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,481 (GRCm39) |
C325* |
probably null |
Het |
Ighv7-3 |
T |
C |
12: 114,116,953 (GRCm39) |
I70V |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 66,157,746 (GRCm39) |
T110A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,075,708 (GRCm39) |
D451G |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,715,668 (GRCm39) |
E1708G |
probably benign |
Het |
Lrriq4 |
T |
A |
3: 30,705,086 (GRCm39) |
D371E |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,810,649 (GRCm39) |
V773E |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,908,882 (GRCm39) |
L23* |
probably null |
Het |
Mapkbp1 |
G |
T |
2: 119,845,982 (GRCm39) |
|
probably benign |
Het |
Mrpl30 |
A |
T |
1: 37,936,791 (GRCm39) |
D52V |
possibly damaging |
Het |
Or10ag57 |
A |
T |
2: 87,219,002 (GRCm39) |
T318S |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,706,259 (GRCm39) |
L103Q |
probably damaging |
Het |
Pard3b |
T |
A |
1: 62,200,320 (GRCm39) |
H286Q |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,873,188 (GRCm39) |
K1144R |
possibly damaging |
Het |
Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,321,012 (GRCm39) |
S22P |
probably benign |
Het |
Prss32 |
A |
T |
17: 24,078,221 (GRCm39) |
E302D |
possibly damaging |
Het |
Prss45 |
A |
G |
9: 110,669,538 (GRCm39) |
K205E |
probably damaging |
Het |
Puf60 |
T |
A |
15: 75,942,323 (GRCm39) |
I500F |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,470,516 (GRCm39) |
I4623N |
probably damaging |
Het |
Sh3bp5l |
T |
A |
11: 58,228,950 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
Socs7 |
G |
T |
11: 97,269,469 (GRCm39) |
R429L |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,748,390 (GRCm39) |
N786K |
possibly damaging |
Het |
Sp4 |
A |
T |
12: 118,218,207 (GRCm39) |
M680K |
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,540 (GRCm39) |
T90A |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,624,000 (GRCm39) |
H1983Q |
probably benign |
Het |
Tbx21 |
T |
C |
11: 97,005,536 (GRCm39) |
H143R |
probably benign |
Het |
Tg |
T |
A |
15: 66,699,231 (GRCm39) |
C833* |
probably null |
Het |
Tmem245 |
A |
G |
4: 56,925,057 (GRCm39) |
S355P |
probably benign |
Het |
Tmem86b |
G |
A |
7: 4,631,465 (GRCm39) |
P191S |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,936,223 (GRCm39) |
C238R |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,308 (GRCm39) |
E361D |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,040,633 (GRCm39) |
V298A |
possibly damaging |
Het |
Trav7-6 |
A |
G |
14: 53,954,536 (GRCm39) |
N22S |
probably damaging |
Het |
Trim75 |
T |
C |
8: 65,435,091 (GRCm39) |
|
probably null |
Het |
Trrap |
T |
A |
5: 144,763,527 (GRCm39) |
I2492N |
probably damaging |
Het |
Ufl1 |
G |
T |
4: 25,254,773 (GRCm39) |
A561E |
probably benign |
Het |
Uqcc1 |
A |
G |
2: 155,752,341 (GRCm39) |
V86A |
probably damaging |
Het |
Vmn1r184 |
A |
G |
7: 25,966,793 (GRCm39) |
I180V |
possibly damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,310,920 (GRCm39) |
F195S |
possibly damaging |
Het |
Vmn2r4 |
A |
C |
3: 64,306,019 (GRCm39) |
|
probably null |
Het |
Vmn2r87 |
T |
C |
10: 130,308,298 (GRCm39) |
T647A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,813,336 (GRCm39) |
H198Q |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,874,627 (GRCm39) |
T154A |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,347,478 (GRCm39) |
M3240V |
probably benign |
Het |
Zfp101 |
T |
C |
17: 33,600,872 (GRCm39) |
R295G |
possibly damaging |
Het |
Zfp619 |
G |
A |
7: 39,184,938 (GRCm39) |
V323I |
probably benign |
Het |
Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
Het |
Zswim6 |
C |
T |
13: 107,863,110 (GRCm39) |
|
noncoding transcript |
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 |
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'- TTTCTGTCAACAGGAGATGGAGATG -3'
(R):5'- CCTATCTAAGGCCACCATGG -3'
Sequencing Primer
(F):5'- GAGGGCAAAAATAGATCACTTTTTC -3'
(R):5'- GCAGGGCAGGGCTTCATATG -3'
|
Posted On |
2016-06-15 |