Incidental Mutation 'R5148:Slc12a8'
| ID |
395218 |
| 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 |
043262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33445288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 448
(R448H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059056]
[ENSMUST00000117134]
[ENSMUST00000119173]
[ENSMUST00000121925]
[ENSMUST00000122314]
[ENSMUST00000122427]
|
| AlphaFold |
Q8VI23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059056
AA Change: R474H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: R474H
| 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: ENSMUST00000117134
AA Change: R228H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: R228H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease
|
1 |
163 |
3.5e-22 |
PFAM |
|
low complexity region
|
235 |
250 |
N/A |
INTRINSIC |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
transmembrane domain
|
366 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119173
AA Change: R394H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: R394H
| 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 benign
Transcript: ENSMUST00000121925
AA Change: R474H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: R474H
| 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: ENSMUST00000122314
AA Change: R228H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: R228H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease
|
1 |
163 |
3.3e-22 |
PFAM |
|
low complexity region
|
235 |
250 |
N/A |
INTRINSIC |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
transmembrane domain
|
366 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122427
AA Change: R448H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: R448H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149291
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,819,285 (GRCm39) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,455,608 (GRCm39) |
M252T |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,606,519 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,992,611 (GRCm39) |
V667A |
probably benign |
Het |
| Cntf |
T |
C |
19: 12,741,368 (GRCm39) |
E164G |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,321,893 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,511,972 (GRCm39) |
|
probably benign |
Het |
| Gm12790 |
C |
T |
4: 101,825,268 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gm5444 |
C |
T |
13: 4,884,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,110 (GRCm39) |
Y574* |
probably null |
Het |
| Gss |
G |
T |
2: 155,415,029 (GRCm39) |
N225K |
possibly damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,958 (GRCm39) |
A635S |
probably benign |
Het |
| Lhfpl5 |
T |
A |
17: 28,798,942 (GRCm39) |
D150E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc40 |
T |
G |
3: 157,760,206 (GRCm39) |
|
probably null |
Het |
| Ly6f |
A |
G |
15: 75,143,646 (GRCm39) |
T118A |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 16,147,037 (GRCm39) |
N1960D |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,130,158 (GRCm39) |
H253R |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,639,084 (GRCm39) |
L1025P |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,203,321 (GRCm39) |
G474W |
probably damaging |
Het |
| Olr1 |
G |
T |
6: 129,470,572 (GRCm39) |
D198E |
probably benign |
Het |
| Or5b123 |
C |
A |
19: 13,596,874 (GRCm39) |
S116* |
probably null |
Het |
| Or5d14 |
G |
A |
2: 87,880,737 (GRCm39) |
T77I |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,317 (GRCm39) |
I66T |
probably benign |
Het |
| Pafah1b1 |
A |
T |
11: 74,575,278 (GRCm39) |
S209T |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,961,641 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,615,455 (GRCm39) |
V855A |
probably benign |
Het |
| Pira2 |
T |
G |
7: 3,847,592 (GRCm39) |
R32S |
possibly damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,676 (GRCm39) |
I344V |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,881 (GRCm39) |
V93A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,098 (GRCm39) |
L186F |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,048,999 (GRCm39) |
C303W |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,342 (GRCm39) |
N100Y |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,503 (GRCm39) |
L96Q |
probably damaging |
Het |
| Snrpd1 |
T |
A |
18: 10,626,892 (GRCm39) |
V53E |
probably benign |
Het |
| Ssbp1 |
T |
C |
6: 40,454,883 (GRCm39) |
V114A |
possibly damaging |
Het |
| T |
A |
G |
17: 8,655,037 (GRCm39) |
E47G |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,111 (GRCm39) |
K189R |
probably benign |
Het |
| Trim47 |
G |
T |
11: 115,998,678 (GRCm39) |
Q314K |
possibly damaging |
Het |
| Vmn2r3 |
G |
T |
3: 64,186,247 (GRCm39) |
P146Q |
probably damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,464,015 (GRCm39) |
V273G |
probably damaging |
Het |
| Wrnip1 |
G |
T |
13: 32,990,839 (GRCm39) |
R366L |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,621,357 (GRCm39) |
H94L |
possibly 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 |
|
|
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 |
|
R8293:Slc12a8
|
UTSW |
16 |
33,361,348 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- ATGGTGGACTACTCTTACTTCG -3'
(R):5'- ACTCTTGCTCCCCACAGAAG -3'
Sequencing Primer
(F):5'- TCCATGGCTCACTGTGGC -3'
(R):5'- GAAGGCAACAGACAACCTCTCAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation