Incidental Mutation 'IGL01701:Slc12a8'
| ID |
104477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc12a8
|
| Ensembl Gene |
ENSMUSG00000035506 |
| Gene Name |
solute carrier family 12 (potassium/chloride transporters), member 8 |
| Synonyms |
E330020C02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33361280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 85
(L85P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059056]
[ENSMUST00000119173]
[ENSMUST00000121925]
[ENSMUST00000122427]
|
| AlphaFold |
Q8VI23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059056
AA Change: L85P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: L85P
| 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 damaging
Transcript: ENSMUST00000119173
AA Change: L54P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: L54P
| 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: L85P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: L85P
| 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 damaging
Transcript: ENSMUST00000122427
AA Change: L85P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: L85P
| 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 |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
| Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,958 (GRCm39) |
V268L |
probably benign |
Het |
| Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
| Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
| Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
| Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
| Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
| Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
| Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
| Lman1 |
A |
T |
18: 66,127,921 (GRCm39) |
V241E |
possibly damaging |
Het |
| Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
| Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Pag1 |
C |
T |
3: 9,758,886 (GRCm39) |
E411K |
probably damaging |
Het |
| Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
| Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,461 (GRCm39) |
F236Y |
probably damaging |
Het |
| Trim30b |
A |
C |
7: 104,015,258 (GRCm39) |
Y43* |
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
| Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation