Incidental Mutation 'R1930:Slc8a3'
ID |
215298 |
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 |
039948-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1930 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 81361220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 533
(T533N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064594
AA Change: T533N
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: T533N
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: T533N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: T533N
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: T533N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: T533N
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 |
0.1133 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,540 (GRCm39) |
D148E |
probably damaging |
Het |
4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
4933430I17Rik |
A |
T |
4: 62,450,519 (GRCm39) |
D31V |
possibly damaging |
Het |
Acsl1 |
C |
A |
8: 46,984,023 (GRCm39) |
A514E |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,326,124 (GRCm39) |
Y110C |
probably damaging |
Het |
Adamts20 |
T |
A |
15: 94,301,891 (GRCm39) |
H27L |
probably benign |
Het |
Ago2 |
A |
T |
15: 72,991,204 (GRCm39) |
I578N |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
AW011738 |
T |
C |
4: 156,287,997 (GRCm39) |
|
probably benign |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Cav1 |
A |
T |
6: 17,339,331 (GRCm39) |
I139F |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,460,291 (GRCm39) |
|
probably null |
Het |
Chrnb1 |
A |
G |
11: 69,683,563 (GRCm39) |
L261P |
possibly damaging |
Het |
Cntn3 |
C |
T |
6: 102,219,014 (GRCm39) |
W535* |
probably null |
Het |
Col4a4 |
A |
C |
1: 82,444,321 (GRCm39) |
|
probably null |
Het |
Daam2 |
A |
T |
17: 49,769,241 (GRCm39) |
|
probably null |
Het |
Ddx23 |
G |
A |
15: 98,548,599 (GRCm39) |
R370W |
possibly damaging |
Het |
Dgkh |
T |
C |
14: 78,853,945 (GRCm39) |
I265V |
probably damaging |
Het |
Ece1 |
A |
G |
4: 137,666,074 (GRCm39) |
K306R |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,497,265 (GRCm39) |
T4250M |
possibly damaging |
Het |
Fezf1 |
T |
G |
6: 23,246,906 (GRCm39) |
I309L |
probably damaging |
Het |
Gabra4 |
T |
C |
5: 71,795,580 (GRCm39) |
K206E |
probably damaging |
Het |
Glt8d2 |
G |
T |
10: 82,500,476 (GRCm39) |
S91R |
probably benign |
Het |
H2-Oa |
A |
T |
17: 34,312,873 (GRCm39) |
H50L |
possibly damaging |
Het |
Hsd17b2 |
T |
C |
8: 118,485,643 (GRCm39) |
Y369H |
possibly damaging |
Het |
Hspg2 |
T |
A |
4: 137,267,541 (GRCm39) |
S2050T |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,753,202 (GRCm39) |
S961R |
probably benign |
Het |
Ift20 |
G |
A |
11: 78,430,830 (GRCm39) |
V58I |
possibly damaging |
Het |
Ippk |
T |
A |
13: 49,603,494 (GRCm39) |
F367I |
probably damaging |
Het |
Klkb1 |
T |
A |
8: 45,728,514 (GRCm39) |
Q415L |
probably benign |
Het |
Krtcap2 |
T |
A |
3: 89,154,383 (GRCm39) |
N35K |
probably damaging |
Het |
Lgi3 |
T |
C |
14: 70,773,708 (GRCm39) |
V294A |
probably damaging |
Het |
Lrp5 |
C |
T |
19: 3,660,131 (GRCm39) |
V978I |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,996,920 (GRCm39) |
D208E |
probably damaging |
Het |
Mc2r |
T |
A |
18: 68,540,853 (GRCm39) |
T147S |
probably benign |
Het |
Mfsd4b1 |
C |
A |
10: 39,882,070 (GRCm39) |
A72S |
probably benign |
Het |
Msln |
A |
T |
17: 25,970,896 (GRCm39) |
N150K |
probably damaging |
Het |
Naaa |
A |
G |
5: 92,425,894 (GRCm39) |
V33A |
probably benign |
Het |
Nol10 |
A |
G |
12: 17,398,555 (GRCm39) |
M1V |
probably null |
Het |
Or4c3 |
G |
A |
2: 89,851,505 (GRCm39) |
R302C |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,223,745 (GRCm39) |
M81K |
probably benign |
Het |
Osbpl1a |
T |
A |
18: 13,038,251 (GRCm39) |
Q269L |
probably benign |
Het |
Pcnx2 |
C |
A |
8: 126,614,453 (GRCm39) |
V333L |
probably benign |
Het |
Peg10 |
A |
G |
6: 4,755,778 (GRCm39) |
Y118C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,366,733 (GRCm39) |
D737G |
possibly damaging |
Het |
Ptgfr |
T |
A |
3: 151,540,831 (GRCm39) |
T226S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Scgb2b20 |
T |
C |
7: 33,065,621 (GRCm39) |
|
probably null |
Het |
Sdr16c6 |
A |
G |
4: 4,058,809 (GRCm39) |
V259A |
probably benign |
Het |
Slc16a5 |
A |
T |
11: 115,360,194 (GRCm39) |
I126F |
probably damaging |
Het |
Slc51b |
T |
A |
9: 65,322,478 (GRCm39) |
E21V |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spata3 |
A |
C |
1: 85,949,783 (GRCm39) |
|
probably benign |
Het |
Specc1l |
A |
G |
10: 75,145,658 (GRCm39) |
D1101G |
probably damaging |
Het |
Srf |
C |
A |
17: 46,860,912 (GRCm39) |
G401C |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stradb |
A |
C |
1: 59,030,264 (GRCm39) |
N173H |
probably benign |
Het |
Sugp1 |
T |
A |
8: 70,524,190 (GRCm39) |
D598E |
probably benign |
Het |
Tdg |
T |
A |
10: 82,477,378 (GRCm39) |
L35Q |
probably damaging |
Het |
Tekt2 |
T |
C |
4: 126,216,610 (GRCm39) |
|
probably null |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,370,262 (GRCm39) |
S301G |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,762,079 (GRCm39) |
N515K |
unknown |
Het |
Togaram1 |
A |
G |
12: 65,013,709 (GRCm39) |
Y320C |
probably damaging |
Het |
Tspyl3 |
A |
G |
2: 153,066,717 (GRCm39) |
F174L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,553,193 (GRCm39) |
D31099N |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,065,700 (GRCm39) |
L446F |
probably damaging |
Het |
Utp25 |
T |
A |
1: 192,800,617 (GRCm39) |
K401I |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
Zfp109 |
G |
A |
7: 23,928,161 (GRCm39) |
T424M |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,436,382 (GRCm39) |
M1K |
probably null |
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 |
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 |
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'- GAACTCCAGCTCCCCATATG -3'
(R):5'- TGGTTCTGAAGCCAGGAGAG -3'
Sequencing Primer
(F):5'- GCTCCCCATATGCATCTTCAAAG -3'
(R):5'- ACCCAGAAGGAGTTCTCTGTG -3'
|
Posted On |
2014-07-14 |