Incidental Mutation 'R6416:Slc8a3'
ID |
517952 |
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 |
044558-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6416 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81362401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 139
(M139I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064594
AA Change: M139I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: M139I
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 |
possibly damaging
Transcript: ENSMUST00000085238
AA Change: M139I
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: M139I
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 |
possibly damaging
Transcript: ENSMUST00000182208
AA Change: M139I
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: M139I
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
Validation Efficiency |
99% (67/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
C |
A |
16: 88,504,779 (GRCm39) |
R6L |
unknown |
Het |
Anxa11 |
A |
G |
14: 25,874,694 (GRCm39) |
Q235R |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,199,065 (GRCm39) |
M1K |
probably null |
Het |
Atl2 |
G |
A |
17: 80,157,652 (GRCm39) |
T563I |
probably benign |
Het |
Azin1 |
A |
T |
15: 38,492,587 (GRCm39) |
S307R |
possibly damaging |
Het |
Ccdc153 |
A |
G |
9: 44,157,077 (GRCm39) |
T118A |
probably benign |
Het |
Chac1 |
G |
A |
2: 119,184,015 (GRCm39) |
V206I |
probably damaging |
Het |
Chrm3 |
A |
G |
13: 9,927,698 (GRCm39) |
V446A |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,123,648 (GRCm39) |
F467S |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 48,536,956 (GRCm39) |
P82L |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,430,984 (GRCm39) |
S840T |
probably benign |
Het |
Ddx60 |
C |
T |
8: 62,451,715 (GRCm39) |
H1202Y |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,984,609 (GRCm39) |
N3102K |
probably benign |
Het |
Dst |
A |
T |
1: 34,155,209 (GRCm39) |
K85M |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,785 (GRCm39) |
I839M |
probably benign |
Het |
Fam184b |
T |
A |
5: 45,694,995 (GRCm39) |
M750L |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,479,799 (GRCm39) |
T1965A |
probably benign |
Het |
Ftl1 |
A |
T |
7: 45,108,634 (GRCm39) |
D41E |
probably benign |
Het |
Garem2 |
G |
A |
5: 30,321,735 (GRCm39) |
W698* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,488,740 (GRCm39) |
Y283C |
probably damaging |
Het |
Hars1 |
T |
C |
18: 36,906,643 (GRCm39) |
E109G |
possibly damaging |
Het |
Hspb9 |
T |
C |
11: 100,605,036 (GRCm39) |
S121P |
probably damaging |
Het |
Hus1b |
A |
T |
13: 31,131,188 (GRCm39) |
L157Q |
probably damaging |
Het |
Hykk |
A |
G |
9: 54,853,643 (GRCm39) |
M322V |
probably benign |
Het |
Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
Il17f |
T |
A |
1: 20,848,131 (GRCm39) |
M116L |
probably benign |
Het |
Kif22 |
T |
C |
7: 126,628,104 (GRCm39) |
K9E |
possibly damaging |
Het |
Krt90 |
T |
C |
15: 101,467,679 (GRCm39) |
E233G |
probably benign |
Het |
Lipg |
T |
C |
18: 75,090,307 (GRCm39) |
M81V |
probably benign |
Het |
Mocos |
C |
T |
18: 24,834,513 (GRCm39) |
S850L |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,059,713 (GRCm39) |
S1364T |
probably damaging |
Het |
Neb |
A |
T |
2: 52,075,340 (GRCm39) |
N208K |
probably benign |
Het |
Oca2 |
G |
T |
7: 55,978,515 (GRCm39) |
R561L |
probably benign |
Het |
Olfm5 |
A |
G |
7: 103,803,260 (GRCm39) |
L401P |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,971 (GRCm39) |
Y291* |
probably null |
Het |
Or2t49 |
T |
C |
11: 58,393,166 (GRCm39) |
D72G |
probably damaging |
Het |
Or4a39 |
C |
A |
2: 89,236,866 (GRCm39) |
A186S |
possibly damaging |
Het |
Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
Or8g33 |
T |
A |
9: 39,338,187 (GRCm39) |
Y60F |
probably damaging |
Het |
Oxgr1 |
T |
C |
14: 120,259,860 (GRCm39) |
N116D |
probably damaging |
Het |
Pcdha11 |
G |
T |
18: 37,145,222 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,176,186 (GRCm39) |
I418V |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,529,909 (GRCm39) |
V62A |
probably benign |
Het |
Pkib |
T |
A |
10: 57,604,234 (GRCm39) |
V46E |
probably damaging |
Het |
Pum1 |
A |
G |
4: 130,455,598 (GRCm39) |
|
probably null |
Het |
Rbak |
G |
T |
5: 143,162,307 (GRCm39) |
Q19K |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,781,959 (GRCm39) |
T32A |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,043,617 (GRCm39) |
W835R |
probably damaging |
Het |
Sis |
T |
G |
3: 72,819,187 (GRCm39) |
K1456N |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,327,588 (GRCm39) |
N675I |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,791,198 (GRCm39) |
F1182S |
probably damaging |
Het |
St8sia2 |
A |
T |
7: 73,621,669 (GRCm39) |
I96N |
probably damaging |
Het |
Stx19 |
T |
C |
16: 62,642,420 (GRCm39) |
S79P |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,286,563 (GRCm39) |
V698M |
probably damaging |
Het |
Timm22 |
T |
C |
11: 76,301,965 (GRCm39) |
S150P |
probably damaging |
Het |
Tjp1 |
C |
T |
7: 64,962,953 (GRCm39) |
D995N |
possibly damaging |
Het |
Tmem135 |
T |
A |
7: 88,797,002 (GRCm39) |
T365S |
probably benign |
Het |
Tmem174 |
T |
C |
13: 98,773,489 (GRCm39) |
T114A |
probably benign |
Het |
Tnc |
A |
G |
4: 63,926,053 (GRCm39) |
I909T |
probably benign |
Het |
Trcg1 |
A |
G |
9: 57,148,613 (GRCm39) |
I62V |
possibly damaging |
Het |
Tulp1 |
A |
T |
17: 28,575,005 (GRCm39) |
*487K |
probably null |
Het |
Unc79 |
T |
A |
12: 103,097,905 (GRCm39) |
V1826E |
possibly damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,321,982 (GRCm39) |
N238K |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,697 (GRCm39) |
N298Y |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,689,861 (GRCm39) |
F246I |
probably damaging |
Het |
Vps9d1 |
A |
C |
8: 123,975,378 (GRCm39) |
V194G |
probably damaging |
Het |
Zfp260 |
A |
T |
7: 29,804,235 (GRCm39) |
H45L |
possibly damaging |
Het |
Zfp846 |
A |
T |
9: 20,505,016 (GRCm39) |
H292L |
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 |
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'- AGCCGTGACGAAGAAGACTC -3'
(R):5'- ACAAGATTGCCAGGGTCATTG -3'
Sequencing Primer
(F):5'- AAGACTCGCAGGTGCTTGATC -3'
(R):5'- TCTATTTTGTGGCCCTGATATACATG -3'
|
Posted On |
2018-05-24 |