Incidental Mutation 'R4532:Slc12a8'
| ID |
333166 |
| 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 |
041772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4532 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33371403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 180
(R180S)
|
| 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: R180S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: R180S
| 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: R149S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: R149S
| 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: R180S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: R180S
| 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: R180S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: R180S
| 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 |
|
| Meta Mutation Damage Score |
0.1638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,101 (GRCm39) |
E647G |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,702,243 (GRCm39) |
K1099E |
unknown |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Cd19 |
C |
T |
7: 126,011,281 (GRCm39) |
C301Y |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,370,202 (GRCm39) |
T198A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,495 (GRCm39) |
S407P |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,227 (GRCm39) |
T34A |
probably damaging |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,318 (GRCm39) |
C52* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,243,278 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm21095 |
A |
G |
Y: 84,131,953 (GRCm39) |
N149S |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,867 (GRCm39) |
H311L |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,765,081 (GRCm39) |
R558C |
unknown |
Het |
| Heatr6 |
T |
C |
11: 83,660,498 (GRCm39) |
L546P |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,603,963 (GRCm39) |
G623S |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,377,564 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrrc3c |
C |
A |
11: 98,489,859 (GRCm39) |
S72* |
probably null |
Het |
| Me3 |
G |
A |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Msln |
A |
G |
17: 25,969,698 (GRCm39) |
I344T |
probably damaging |
Het |
| Oma1 |
G |
A |
4: 103,176,571 (GRCm39) |
V112I |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,274 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,756 (GRCm39) |
Y252H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,341,744 (GRCm39) |
N659S |
probably damaging |
Het |
| Rmnd5a |
A |
T |
6: 71,376,109 (GRCm39) |
|
probably null |
Het |
| Slc6a15 |
G |
A |
10: 103,245,648 (GRCm39) |
V544M |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,447 (GRCm39) |
T648S |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,194,219 (GRCm39) |
F921L |
probably damaging |
Het |
| Stard6 |
A |
C |
18: 70,616,605 (GRCm39) |
D88A |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,068,886 (GRCm39) |
H2967N |
possibly damaging |
Het |
| Tcaf2 |
A |
C |
6: 42,603,371 (GRCm39) |
Y730D |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,407 (GRCm39) |
V172M |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,902,914 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r38 |
G |
T |
6: 66,754,016 (GRCm39) |
H33Q |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,797,349 (GRCm39) |
C821* |
probably null |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,507 (GRCm39) |
I455N |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCTTCCTCCCAGACAG -3'
(R):5'- CACATGATTAGGACCAGCCC -3'
Sequencing Primer
(F):5'- CAGACAGTGGAGGTATCACC -3'
(R):5'- CACCCTAGTCAGAGGTACAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation