Incidental Mutation 'R6411:Slc8b1'
| ID |
514594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc8b1
|
| Ensembl Gene |
ENSMUSG00000032754 |
| Gene Name |
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 |
| Synonyms |
NCLX, NCKX6, Slc24a6 |
| MMRRC Submission |
044384-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120649233-120672089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120659191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 212
(W212R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068326]
[ENSMUST00000076051]
[ENSMUST00000111889]
[ENSMUST00000111890]
[ENSMUST00000140329]
|
| AlphaFold |
Q925Q3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068326
AA Change: W229R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: W229R
| 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 |
possibly damaging
Transcript: ENSMUST00000076051
AA Change: W229R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: W229R
| 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 benign
Transcript: ENSMUST00000111889
|
| SMART Domains |
Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
| 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: W212R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: W212R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140329
|
| SMART Domains |
Protein: ENSMUSP00000117260
Gene: ENSMUSG00000032754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
| Carmil2 |
G |
T |
8: 106,423,658 (GRCm39) |
D1211Y |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
| Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
| Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
| Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
| Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
| Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
| Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
| Rab8b |
A |
T |
9: 66,761,948 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
Het |
| Zfp758 |
A |
T |
17: 22,594,075 (GRCm39) |
D155V |
possibly damaging |
Het |
|
| Other mutations in Slc8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Slc8b1
|
APN |
5 |
120,671,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTATGGAGACGCTGGGGATC -3'
(R):5'- ACCCAGTTTTCTGTGAGGCC -3'
Sequencing Primer
(F):5'- TGCCTCCTGAGCTCTGG -3'
(R):5'- TGGGCTCCTGATCACATCTAAAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation