Incidental Mutation 'R9384:Slc12a8'
| ID |
710229 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33466947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 485
(C485S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113633
(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: C565S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: C565S
| 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: C319S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: C319S
| 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: C485S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: C485S
| 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: C565S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: C565S
| 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: C319S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: C319S
| 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: C539S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: C539S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,106 (GRCm39) |
A1213T |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,041,067 (GRCm39) |
L1079P |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,904,404 (GRCm39) |
V2374A |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Coro6 |
A |
G |
11: 77,360,218 (GRCm39) |
E436G |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,920 (GRCm39) |
V352A |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,285,926 (GRCm39) |
T695I |
probably damaging |
Het |
| Dclk1 |
A |
C |
3: 55,154,936 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Dsel |
C |
A |
1: 111,787,863 (GRCm39) |
E891* |
probably null |
Het |
| Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Gm7137 |
A |
G |
10: 77,623,614 (GRCm39) |
S141P |
unknown |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,002,597 (GRCm39) |
F302Y |
probably benign |
Het |
| Hs3st1 |
T |
G |
5: 39,771,962 (GRCm39) |
D227A |
possibly damaging |
Het |
| Igkv7-33 |
G |
T |
6: 70,036,174 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,496,618 (GRCm39) |
|
probably null |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,458 (GRCm39) |
R1222S |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Or1e30 |
C |
A |
11: 73,677,796 (GRCm39) |
Q11K |
probably benign |
Het |
| Or5t7 |
T |
A |
2: 86,507,357 (GRCm39) |
T107S |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,448 (GRCm39) |
T11A |
probably benign |
Het |
| Pou2af3 |
T |
C |
9: 51,183,638 (GRCm39) |
N112S |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,874,110 (GRCm39) |
S234P |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,455 (GRCm39) |
S1190P |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Sugt1 |
T |
C |
14: 79,866,388 (GRCm39) |
Y336H |
probably damaging |
Het |
| Tas2r134 |
A |
T |
2: 51,518,034 (GRCm39) |
Y171F |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,783 (GRCm39) |
D1088E |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,095,912 (GRCm39) |
W509R |
probably damaging |
Het |
| Tmem115 |
T |
C |
9: 107,411,742 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,724,276 (GRCm39) |
T223A |
probably benign |
Het |
| Tmprss6 |
G |
A |
15: 78,328,302 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,194,631 (GRCm39) |
S1175G |
unknown |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Vmn2r11 |
C |
A |
5: 109,201,266 (GRCm39) |
A413S |
probably damaging |
Het |
| Vmn2r19 |
T |
G |
6: 123,292,923 (GRCm39) |
S322A |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
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 |
|
|
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 |
|
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'- AGAGGCTCCCACTTCTACTC -3'
(R):5'- TTGTCATGGCAGTCTCACC -3'
Sequencing Primer
(F):5'- GGTCTAAGGCCATAAGTCCTTCG -3'
(R):5'- GCAGTCTCACCTTAATTCCAATAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation