Incidental Mutation 'R0780:Slc12a8'
| ID |
76595 |
| 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 |
038960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 33467035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059056]
[ENSMUST00000117134]
[ENSMUST00000119173]
[ENSMUST00000121925]
[ENSMUST00000122314]
[ENSMUST00000122427]
|
| AlphaFold |
Q8VI23 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059056
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
| 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 null
Transcript: ENSMUST00000117134
|
| SMART Domains |
Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
| 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 null
Transcript: ENSMUST00000119173
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
| 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 null
Transcript: ENSMUST00000121925
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
| 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 null
Transcript: ENSMUST00000122314
|
| SMART Domains |
Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
| 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 null
Transcript: ENSMUST00000122427
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
C |
T |
5: 137,288,794 (GRCm39) |
R167C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,315,102 (GRCm39) |
I85T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,966,322 (GRCm39) |
L1030S |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,569,604 (GRCm39) |
K222E |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,577 (GRCm39) |
F635L |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,461,424 (GRCm39) |
T701M |
probably damaging |
Het |
| Cxcr2 |
T |
A |
1: 74,198,334 (GRCm39) |
M276K |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,993,824 (GRCm39) |
I409K |
unknown |
Het |
| Dnah10 |
G |
T |
5: 124,827,876 (GRCm39) |
G741W |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,036,608 (GRCm39) |
|
probably null |
Het |
| Ifi208 |
A |
G |
1: 173,510,262 (GRCm39) |
D139G |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,874,476 (GRCm39) |
V40E |
unknown |
Het |
| Kmt2d |
G |
T |
15: 98,760,738 (GRCm39) |
P871T |
unknown |
Het |
| Lats2 |
A |
T |
14: 57,928,753 (GRCm39) |
Y1041N |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,206,947 (GRCm39) |
T486I |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,502,266 (GRCm39) |
D773E |
probably benign |
Het |
| Ptgds |
A |
G |
2: 25,358,104 (GRCm39) |
F143S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,800 (GRCm39) |
S1129G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,337,273 (GRCm39) |
V1248A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,307,092 (GRCm39) |
H1562Q |
probably benign |
Het |
| Uba3 |
G |
A |
6: 97,163,666 (GRCm39) |
R294* |
probably null |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,933 (GRCm39) |
V219E |
probably damaging |
Het |
| Zfand6 |
T |
A |
7: 84,265,042 (GRCm39) |
I220F |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTAAGGCCATAAGTCCTTCGTCC -3'
(R):5'- TGCTCCATTCCTCCCTACAATCAACA -3'
Sequencing Primer
(F):5'- CTGATTCACAAAATCTGGGGAC -3'
(R):5'- TTCCTCCCTACAATCAACAAATCATC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation