Incidental Mutation 'R8293:Slc12a8'
| ID |
638820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a8
|
| Ensembl Gene |
ENSMUSG00000035506 |
| Gene Name |
solute carrier family 12 (potassium/chloride transporters), member 8 |
| Synonyms |
E330020C02Rik |
| MMRRC Submission |
067783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33361348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 77
(M77L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059056]
[ENSMUST00000119173]
[ENSMUST00000121925]
[ENSMUST00000122427]
|
| AlphaFold |
Q8VI23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059056
AA Change: M108L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: M108L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
410 |
4e-24 |
PFAM |
|
Pfam:AA_permease
|
43 |
409 |
5.3e-51 |
PFAM |
|
low complexity region
|
481 |
496 |
N/A |
INTRINSIC |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119173
AA Change: M77L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: M77L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
7 |
266 |
4.2e-15 |
PFAM |
|
Pfam:AA_permease
|
12 |
267 |
1.9e-37 |
PFAM |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
416 |
N/A |
INTRINSIC |
|
transmembrane domain
|
505 |
527 |
N/A |
INTRINSIC |
|
transmembrane domain
|
532 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121925
AA Change: M108L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: M108L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
409 |
2.4e-23 |
PFAM |
|
Pfam:AA_permease
|
43 |
409 |
5e-50 |
PFAM |
|
low complexity region
|
481 |
496 |
N/A |
INTRINSIC |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122427
AA Change: M108L
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: M108L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
386 |
7.7e-18 |
PFAM |
|
Pfam:AA_permease
|
43 |
381 |
1.3e-44 |
PFAM |
|
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,864 (GRCm39) |
S105P |
possibly damaging |
Het |
| Acsm1 |
T |
G |
7: 119,237,319 (GRCm39) |
S211A |
possibly damaging |
Het |
| Adam4 |
T |
A |
12: 81,467,185 (GRCm39) |
R479* |
probably null |
Het |
| Agap3 |
A |
C |
5: 24,692,883 (GRCm39) |
S439R |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,050,141 (GRCm39) |
H1075L |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,079,029 (GRCm39) |
E1299G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,121,864 (GRCm39) |
K468E |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,845,570 (GRCm39) |
I329F |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,796 (GRCm39) |
T115S |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,084 (GRCm39) |
N101S |
probably benign |
Het |
| Ces2b |
A |
C |
8: 105,559,258 (GRCm39) |
T40P |
unknown |
Het |
| Cfap221 |
A |
G |
1: 119,909,504 (GRCm39) |
V156A |
possibly damaging |
Het |
| Chrm4 |
C |
T |
2: 91,758,563 (GRCm39) |
P324S |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,850 (GRCm39) |
M227L |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,952,075 (GRCm39) |
D639G |
probably damaging |
Het |
| Cts8 |
A |
G |
13: 61,401,882 (GRCm39) |
V5A |
probably benign |
Het |
| Cxcl2 |
A |
T |
5: 91,052,088 (GRCm39) |
T65S |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,552,411 (GRCm39) |
R368L |
probably benign |
Het |
| D630023F18Rik |
A |
T |
1: 65,147,939 (GRCm39) |
S205T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,229,401 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
G |
A |
13: 45,084,615 (GRCm39) |
T175I |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,026,882 (GRCm39) |
L332P |
probably damaging |
Het |
| E2f4 |
A |
G |
8: 106,024,451 (GRCm39) |
T27A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,758 (GRCm39) |
F1163L |
unknown |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,790,387 (GRCm39) |
D241G |
probably benign |
Het |
| Fus |
T |
C |
7: 127,571,749 (GRCm39) |
S184P |
unknown |
Het |
| Gabarap |
C |
A |
11: 69,883,498 (GRCm39) |
T87N |
possibly damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,235 (GRCm39) |
V175G |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,646 (GRCm39) |
Y368H |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,778,011 (GRCm39) |
Y529H |
probably damaging |
Het |
| Incenp |
G |
A |
19: 9,852,497 (GRCm39) |
R714* |
probably null |
Het |
| Lvrn |
C |
A |
18: 46,983,632 (GRCm39) |
T125K |
possibly damaging |
Het |
| Ms4a6c |
T |
A |
19: 11,455,660 (GRCm39) |
S156R |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,502,266 (GRCm39) |
R21L |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,136,827 (GRCm39) |
M3218K |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,663 (GRCm39) |
D749G |
probably benign |
Het |
| Nxpe5 |
A |
T |
5: 138,228,804 (GRCm39) |
Q7L |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,986,598 (GRCm39) |
M101L |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,269 (GRCm39) |
E89D |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,689 (GRCm39) |
I72V |
possibly damaging |
Het |
| Pla2g5 |
A |
G |
4: 138,531,917 (GRCm39) |
I29T |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,643,917 (GRCm39) |
T499I |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,986,623 (GRCm39) |
D322E |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,964,014 (GRCm39) |
N1770D |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,428,548 (GRCm39) |
D202E |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,359 (GRCm39) |
I902M |
probably damaging |
Het |
| Slc35f2 |
G |
A |
9: 53,724,224 (GRCm39) |
G366D |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,264,984 (GRCm39) |
D674G |
probably damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,791 (GRCm39) |
E456A |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,011,618 (GRCm39) |
N139S |
probably benign |
Het |
| Taar8c |
C |
T |
10: 23,977,015 (GRCm39) |
V266M |
probably benign |
Het |
| Tank |
T |
A |
2: 61,474,758 (GRCm39) |
I204N |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,694,020 (GRCm39) |
T714A |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,820,457 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,645,969 (GRCm39) |
S2023T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,696,218 (GRCm39) |
H2741R |
|
Het |
| Wnt10a |
G |
T |
1: 74,842,376 (GRCm39) |
R284L |
probably damaging |
Het |
|
| Other mutations in Slc12a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00938:Slc12a8
|
APN |
16 |
33,361,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01701:Slc12a8
|
APN |
16 |
33,361,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02024:Slc12a8
|
APN |
16 |
33,428,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Slc12a8
|
APN |
16 |
33,445,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02637:Slc12a8
|
APN |
16 |
33,355,330 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03248:Slc12a8
|
APN |
16 |
33,371,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Slc12a8
|
UTSW |
16 |
33,428,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Slc12a8
|
UTSW |
16 |
33,371,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Slc12a8
|
UTSW |
16 |
33,478,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0669:Slc12a8
|
UTSW |
16 |
33,371,274 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0780:Slc12a8
|
UTSW |
16 |
33,467,035 (GRCm39) |
splice site |
probably null |
|
|
R1170:Slc12a8
|
UTSW |
16 |
33,483,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Slc12a8
|
UTSW |
16 |
33,355,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Slc12a8
|
UTSW |
16 |
33,371,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2917:Slc12a8
|
UTSW |
16 |
33,371,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4092:Slc12a8
|
UTSW |
16 |
33,437,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Slc12a8
|
UTSW |
16 |
33,371,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Slc12a8
|
UTSW |
16 |
33,428,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4638:Slc12a8
|
UTSW |
16 |
33,410,693 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4908:Slc12a8
|
UTSW |
16 |
33,426,629 (GRCm39) |
splice site |
probably null |
|
|
R5148:Slc12a8
|
UTSW |
16 |
33,445,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Slc12a8
|
UTSW |
16 |
33,437,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5711:Slc12a8
|
UTSW |
16 |
33,410,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Slc12a8
|
UTSW |
16 |
33,445,155 (GRCm39) |
nonsense |
probably null |
|
|
R6122:Slc12a8
|
UTSW |
16 |
33,445,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6592:Slc12a8
|
UTSW |
16 |
33,437,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6995:Slc12a8
|
UTSW |
16 |
33,355,263 (GRCm39) |
nonsense |
probably null |
|
|
R7602:Slc12a8
|
UTSW |
16 |
33,445,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7772:Slc12a8
|
UTSW |
16 |
33,371,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Slc12a8
|
UTSW |
16 |
33,444,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Slc12a8
|
UTSW |
16 |
33,445,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Slc12a8
|
UTSW |
16 |
33,371,321 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8765:Slc12a8
|
UTSW |
16 |
33,338,731 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9022:Slc12a8
|
UTSW |
16 |
33,466,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9027:Slc12a8
|
UTSW |
16 |
33,445,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Slc12a8
|
UTSW |
16 |
33,361,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Slc12a8
|
UTSW |
16 |
33,466,947 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Slc12a8
|
UTSW |
16 |
33,426,543 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Slc12a8
|
UTSW |
16 |
33,361,335 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATCTCGAACAGCTCTAAG -3'
(R):5'- ATTGGTGGTGCAAGCTCCAG -3'
Sequencing Primer
(F):5'- AGAGAGATGGTTTTCCTAACTCTG -3'
(R):5'- CCAGTGTGGTCCTCTGTCAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation