Incidental Mutation 'IGL02223:Slc12a8'
| ID |
285203 |
| 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 # |
IGL02223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33445060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 372
(D372G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059056]
[ENSMUST00000117134]
[ENSMUST00000119173]
[ENSMUST00000121925]
[ENSMUST00000122314]
[ENSMUST00000122427]
|
| AlphaFold |
Q8VI23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059056
AA Change: D398G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: D398G
| 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: ENSMUST00000117134
AA Change: D152G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: D152G
| 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 damaging
Transcript: ENSMUST00000119173
AA Change: D318G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: D318G
| 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: D398G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: D398G
| 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: ENSMUST00000122314
AA Change: D152G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: D152G
| 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 damaging
Transcript: ENSMUST00000122427
AA Change: D372G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: D372G
| 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
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,506,909 (GRCm39) |
W1148* |
probably null |
Het |
| Adam17 |
A |
G |
12: 21,411,706 (GRCm39) |
S62P |
possibly damaging |
Het |
| Akap8 |
T |
C |
17: 32,535,621 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,049,721 (GRCm39) |
N48S |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,966 (GRCm39) |
T241A |
probably damaging |
Het |
| Cct7 |
G |
T |
6: 85,439,023 (GRCm39) |
M112I |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,221,481 (GRCm39) |
A198T |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,205 (GRCm39) |
V264A |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,584 (GRCm39) |
T1071A |
probably benign |
Het |
| Dlst |
A |
G |
12: 85,177,692 (GRCm39) |
I362V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,163,955 (GRCm39) |
E3100G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,906 (GRCm39) |
R102L |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,693,817 (GRCm39) |
F162S |
probably damaging |
Het |
| Gipc2 |
G |
A |
3: 151,833,687 (GRCm39) |
P198L |
probably damaging |
Het |
| Gm5258 |
A |
G |
1: 86,251,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
A |
G |
17: 79,152,608 (GRCm39) |
T259A |
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,972 (GRCm39) |
N32S |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,340,171 (GRCm39) |
I999V |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,592,419 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
A |
G |
9: 44,697,609 (GRCm39) |
S165G |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,873,897 (GRCm39) |
S389P |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,211 (GRCm39) |
N172T |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,336,507 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,864 (GRCm39) |
N574S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,048,702 (GRCm39) |
D683G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,484 (GRCm39) |
E236G |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,861,967 (GRCm39) |
I202F |
probably damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,487,202 (GRCm39) |
Y129* |
probably null |
Het |
| Nlrp5 |
T |
C |
7: 23,129,447 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
G |
A |
9: 21,904,908 (GRCm39) |
R293C |
probably damaging |
Het |
| Or5k14 |
C |
T |
16: 58,693,057 (GRCm39) |
G152E |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,652,006 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,265 (GRCm39) |
S179P |
probably benign |
Het |
| Rexo4 |
C |
A |
2: 26,845,511 (GRCm39) |
C369F |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,209,993 (GRCm39) |
N692D |
possibly damaging |
Het |
| Scmh1 |
C |
A |
4: 120,372,416 (GRCm39) |
H406Q |
probably benign |
Het |
| Snip1 |
T |
C |
4: 124,966,545 (GRCm39) |
F325S |
possibly damaging |
Het |
| Spr-ps1 |
C |
T |
6: 85,132,181 (GRCm39) |
|
noncoding transcript |
Het |
| Stk36 |
A |
G |
1: 74,662,496 (GRCm39) |
Y538C |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,105,879 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,155,079 (GRCm39) |
T6787A |
probably benign |
Het |
| Tbcel |
T |
G |
9: 42,363,014 (GRCm39) |
M10L |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,599,022 (GRCm39) |
Y43* |
probably null |
Het |
| Tjp1 |
C |
T |
7: 64,972,349 (GRCm39) |
R605Q |
probably damaging |
Het |
| Tmem65 |
A |
G |
15: 58,662,000 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,769,753 (GRCm39) |
|
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,731,989 (GRCm39) |
E134G |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,472,081 (GRCm39) |
L91P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,807,463 (GRCm39) |
T90I |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,466 (GRCm39) |
E43G |
unknown |
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 |
|
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 |
2015-04-16 |
Incidental Mutation