Incidental Mutation 'R9027:Slc12a8'
ID |
686830 |
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 |
068856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9027 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
33337698-33484505 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33445215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 370
(S370P)
|
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: S450P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000062337 Gene: ENSMUSG00000035506 AA Change: S450P
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: S204P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112925 Gene: ENSMUSG00000035506 AA Change: S204P
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: S370P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113633 Gene: ENSMUSG00000035506 AA Change: S370P
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: S450P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112439 Gene: ENSMUSG00000035506 AA Change: S450P
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: S204P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000113901 Gene: ENSMUSG00000035506 AA Change: S204P
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: S424P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113164 Gene: ENSMUSG00000035506 AA Change: S424P
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (59/60) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
C |
A |
5: 121,640,788 (GRCm39) |
E86* |
probably null |
Het |
Ahnak |
T |
G |
19: 8,984,617 (GRCm39) |
I1967S |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,212,600 (GRCm39) |
V83A |
possibly damaging |
Het |
Arhgap20 |
A |
T |
9: 51,754,977 (GRCm39) |
R439S |
probably damaging |
Het |
Arl1 |
A |
G |
10: 88,569,458 (GRCm39) |
I20V |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,995,628 (GRCm39) |
D93G |
probably benign |
Het |
Btbd7 |
T |
G |
12: 102,804,838 (GRCm39) |
K67N |
probably damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,301 (GRCm39) |
N118S |
probably benign |
Het |
Ccz1 |
A |
C |
5: 143,946,120 (GRCm39) |
|
probably benign |
Het |
Cdk19 |
A |
G |
10: 40,355,728 (GRCm39) |
S479G |
unknown |
Het |
Chrd |
A |
G |
16: 20,555,737 (GRCm39) |
T503A |
probably damaging |
Het |
Clca4b |
G |
A |
3: 144,617,827 (GRCm39) |
R759* |
probably null |
Het |
Cpa5 |
G |
T |
6: 30,612,604 (GRCm39) |
M1I |
probably null |
Het |
Cr2 |
A |
T |
1: 194,834,029 (GRCm39) |
I920N |
probably benign |
Het |
Crmp1 |
C |
A |
5: 37,437,947 (GRCm39) |
Y430* |
probably null |
Het |
Dars1 |
A |
T |
1: 128,296,163 (GRCm39) |
V390D |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,853,555 (GRCm39) |
S85P |
probably damaging |
Het |
Ermardl1 |
A |
G |
17: 15,242,364 (GRCm39) |
E416G |
unknown |
Het |
Fancm |
C |
A |
12: 65,122,605 (GRCm39) |
D42E |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,423,122 (GRCm39) |
Y192F |
possibly damaging |
Het |
Gpr3 |
A |
T |
4: 132,938,209 (GRCm39) |
Y154* |
probably null |
Het |
Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
Ints5 |
C |
A |
19: 8,873,322 (GRCm39) |
P427Q |
possibly damaging |
Het |
Jhy |
A |
T |
9: 40,828,823 (GRCm39) |
V361D |
probably benign |
Het |
Klhl33 |
G |
A |
14: 51,130,322 (GRCm39) |
Q131* |
probably null |
Het |
Lama2 |
A |
T |
10: 27,080,881 (GRCm39) |
C981S |
probably damaging |
Het |
Mks1 |
C |
A |
11: 87,748,041 (GRCm39) |
L225I |
probably damaging |
Het |
Ms4a20 |
A |
T |
19: 11,083,055 (GRCm39) |
Y122N |
probably damaging |
Het |
Nfasc |
T |
A |
1: 132,539,343 (GRCm39) |
S402C |
probably damaging |
Het |
Or2a57 |
T |
C |
6: 43,213,358 (GRCm39) |
I272T |
possibly damaging |
Het |
Or4k50-ps1 |
A |
T |
2: 111,522,517 (GRCm39) |
Y218F |
unknown |
Het |
Or51g2 |
T |
C |
7: 102,622,560 (GRCm39) |
D213G |
probably damaging |
Het |
Pbx4 |
T |
A |
8: 70,316,999 (GRCm39) |
D85E |
possibly damaging |
Het |
Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,056,972 (GRCm39) |
E351* |
probably null |
Het |
Rragd |
G |
A |
4: 32,996,083 (GRCm39) |
V143I |
probably damaging |
Het |
Rsph14 |
A |
T |
10: 74,795,423 (GRCm39) |
M254K |
probably damaging |
Het |
Selenoi |
C |
T |
5: 30,437,607 (GRCm39) |
|
probably benign |
Het |
Six6 |
T |
C |
12: 72,986,935 (GRCm39) |
S36P |
|
Het |
Slc25a46 |
A |
G |
18: 31,716,432 (GRCm39) |
Y357H |
probably benign |
Het |
Socs2 |
A |
T |
10: 95,248,948 (GRCm39) |
V55D |
probably damaging |
Het |
Socs6 |
T |
C |
18: 88,888,852 (GRCm39) |
E21G |
probably benign |
Het |
Spata31e4 |
C |
T |
13: 50,857,007 (GRCm39) |
Q882* |
probably null |
Het |
Speg |
A |
T |
1: 75,365,076 (GRCm39) |
T486S |
possibly damaging |
Het |
Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Stxbp5l |
T |
C |
16: 37,165,473 (GRCm39) |
K82E |
probably damaging |
Het |
Sugt1 |
A |
G |
14: 79,825,155 (GRCm39) |
|
probably benign |
Het |
Synm |
T |
C |
7: 67,384,440 (GRCm39) |
Y1074C |
probably damaging |
Het |
Sytl2 |
A |
G |
7: 90,028,748 (GRCm39) |
T476A |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,414,349 (GRCm39) |
S237P |
probably benign |
Het |
Tbc1d5 |
C |
A |
17: 51,063,692 (GRCm39) |
M629I |
probably damaging |
Het |
Tlr11 |
G |
A |
14: 50,598,749 (GRCm39) |
G245D |
probably damaging |
Het |
Tspan4 |
T |
C |
7: 141,069,577 (GRCm39) |
V59A |
probably benign |
Het |
Tulp4 |
T |
A |
17: 6,283,472 (GRCm39) |
V1167E |
possibly damaging |
Het |
Usp42 |
G |
A |
5: 143,708,906 (GRCm39) |
T204M |
probably damaging |
Het |
Vapb |
A |
G |
2: 173,617,948 (GRCm39) |
K147R |
possibly damaging |
Het |
Vmn1r228 |
T |
C |
17: 20,997,422 (GRCm39) |
D32G |
probably benign |
Het |
Vmn2r33 |
A |
G |
7: 7,554,168 (GRCm39) |
F795S |
probably damaging |
Het |
Vmn2r34 |
A |
T |
7: 7,675,527 (GRCm39) |
N620K |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,643,626 (GRCm39) |
C2389F |
|
Het |
Wdr81 |
T |
C |
11: 75,332,908 (GRCm39) |
E652G |
|
Het |
Wdr81 |
A |
T |
11: 75,343,207 (GRCm39) |
S687T |
probably benign |
Het |
Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
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 |
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'- GCTGACCTACATCATGGTGGAC -3'
(R):5'- ACTCTTGCTCCCCACAGAAG -3'
Sequencing Primer
(F):5'- GACCTACATCATGGTGGACTACTC -3'
(R):5'- ACCTCTCAGAAGTCCTCGTAGG -3'
|
Posted On |
2021-11-19 |