Incidental Mutation 'IGL00958:Slc8b1'
| ID |
27480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc8b1
|
| Ensembl Gene |
ENSMUSG00000032754 |
| Gene Name |
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 |
| Synonyms |
NCLX, NCKX6, Slc24a6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120649233-120672089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120671049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 545
(L545P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
[ENSMUST00000068326]
[ENSMUST00000076051]
[ENSMUST00000111889]
[ENSMUST00000111890]
|
| AlphaFold |
Q925Q3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046426
|
| SMART Domains |
Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
106 |
332 |
1.5e-30 |
PFAM |
|
Pfam:Ion_trans
|
441 |
695 |
1.2e-31 |
PFAM |
|
SCOP:d1fxkc_
|
713 |
795 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068326
AA Change: L562P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: L562P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
103 |
246 |
5.7e-25 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
421 |
574 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000076051
|
| SMART Domains |
Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
244 |
9.2e-19 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
323 |
345 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
431 |
477 |
2.3e-8 |
PFAM |
|
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111889
AA Change: L506P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: L506P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
232 |
2.5e-16 |
PFAM |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
|
transmembrane domain
|
331 |
353 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
375 |
516 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111890
AA Change: L545P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: L545P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
116 |
227 |
2.8e-12 |
PFAM |
|
low complexity region
|
245 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
414 |
555 |
3.2e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
All alleles(22) : Targeted(3) Gene trapped(19)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,103,324 (GRCm39) |
R635M |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,294 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cdk5rap3 |
T |
C |
11: 96,800,793 (GRCm39) |
N348D |
probably benign |
Het |
| Cep295nl |
G |
A |
11: 118,224,730 (GRCm39) |
T38I |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,366,755 (GRCm39) |
S232A |
unknown |
Het |
| Ddx1 |
T |
C |
12: 13,290,849 (GRCm39) |
|
probably null |
Het |
| Gckr |
A |
T |
5: 31,456,129 (GRCm39) |
|
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,951,269 (GRCm39) |
L110P |
possibly damaging |
Het |
| H2ac25 |
G |
T |
11: 58,845,766 (GRCm39) |
G68V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,516 (GRCm39) |
I253V |
probably benign |
Het |
| Or10q1b |
G |
A |
19: 13,683,096 (GRCm39) |
V302I |
probably benign |
Het |
| Or13a28 |
T |
A |
7: 140,218,169 (GRCm39) |
L185H |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,266,928 (GRCm39) |
I47V |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,565 (GRCm39) |
*313Q |
probably null |
Het |
| Or51a42 |
T |
C |
7: 103,708,620 (GRCm39) |
Y63C |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,320 (GRCm39) |
V153A |
probably benign |
Het |
| Pias3 |
C |
T |
3: 96,606,738 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,453 (GRCm39) |
|
probably null |
Het |
| Raet1d |
A |
G |
10: 22,246,791 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rcan2 |
G |
A |
17: 44,347,908 (GRCm39) |
V206I |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,270,864 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tmem145 |
T |
G |
7: 25,006,782 (GRCm39) |
|
probably null |
Het |
| Trib2 |
T |
C |
12: 15,843,634 (GRCm39) |
E336G |
possibly damaging |
Het |
|
| Other mutations in Slc8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Slc8b1
|
APN |
5 |
120,671,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Slc8b1
|
APN |
5 |
120,665,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02448:Slc8b1
|
APN |
5 |
120,663,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Slc8b1
|
APN |
5 |
120,658,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Slc8b1
|
APN |
5 |
120,657,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Slc8b1
|
UTSW |
5 |
120,659,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0062:Slc8b1
|
UTSW |
5 |
120,659,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0082:Slc8b1
|
UTSW |
5 |
120,662,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0532:Slc8b1
|
UTSW |
5 |
120,657,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Slc8b1
|
UTSW |
5 |
120,669,220 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Slc8b1
|
UTSW |
5 |
120,662,260 (GRCm39) |
unclassified |
probably benign |
|
|
R1667:Slc8b1
|
UTSW |
5 |
120,659,147 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1710:Slc8b1
|
UTSW |
5 |
120,657,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Slc8b1
|
UTSW |
5 |
120,659,180 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1865:Slc8b1
|
UTSW |
5 |
120,667,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2829:Slc8b1
|
UTSW |
5 |
120,662,078 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4544:Slc8b1
|
UTSW |
5 |
120,669,218 (GRCm39) |
splice site |
probably null |
|
|
R4553:Slc8b1
|
UTSW |
5 |
120,667,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4976:Slc8b1
|
UTSW |
5 |
120,663,740 (GRCm39) |
nonsense |
probably null |
|
|
R4977:Slc8b1
|
UTSW |
5 |
120,662,352 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5690:Slc8b1
|
UTSW |
5 |
120,651,270 (GRCm39) |
nonsense |
probably null |
|
|
R5812:Slc8b1
|
UTSW |
5 |
120,651,403 (GRCm39) |
splice site |
probably null |
|
|
R6030:Slc8b1
|
UTSW |
5 |
120,657,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6030:Slc8b1
|
UTSW |
5 |
120,657,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6107:Slc8b1
|
UTSW |
5 |
120,667,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6411:Slc8b1
|
UTSW |
5 |
120,659,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6486:Slc8b1
|
UTSW |
5 |
120,671,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Slc8b1
|
UTSW |
5 |
120,667,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Slc8b1
|
UTSW |
5 |
120,662,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Slc8b1
|
UTSW |
5 |
120,665,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7672:Slc8b1
|
UTSW |
5 |
120,671,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8056:Slc8b1
|
UTSW |
5 |
120,658,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Slc8b1
|
UTSW |
5 |
120,651,203 (GRCm39) |
start gained |
probably benign |
|
|
R9103:Slc8b1
|
UTSW |
5 |
120,670,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9106:Slc8b1
|
UTSW |
5 |
120,668,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Slc8b1
|
UTSW |
5 |
120,662,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9565:Slc8b1
|
UTSW |
5 |
120,665,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation