Incidental Mutation 'R6542:Slc8b1'
ID |
520827 |
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 |
044668-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6542 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120649233-120672089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 120667582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 405
(A405V)
|
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: A422V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064714 Gene: ENSMUSG00000032754 AA Change: A422V
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 |
probably damaging
Transcript: ENSMUST00000076051
AA Change: A422V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075428 Gene: ENSMUSG00000032754 AA Change: A422V
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: A366V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107520 Gene: ENSMUSG00000032754 AA Change: A366V
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: A405V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107521 Gene: ENSMUSG00000032754 AA Change: A405V
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
probably 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 |
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 |
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'- CTGAAGAAGGCTGTGCTAGG -3'
(R):5'- TCCAGCTCTGAGTATGGCTAG -3'
Sequencing Primer
(F):5'- AGGCCTGCCAGAGAGCATC -3'
(R):5'- CAGCTCTGAGTATGGCTAGGGAAG -3'
|
Posted On |
2018-06-06 |