Incidental Mutation 'R3617:Slc12a9'
ID |
268470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a9
|
Ensembl Gene |
ENSMUSG00000037344 |
Gene Name |
solute carrier family 12 (potassium/chloride transporters), member 9 |
Synonyms |
CIP1 |
MMRRC Submission |
040674-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.424)
|
Stock # |
R3617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137330759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 47
(T47M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039991]
[ENSMUST00000156646]
|
AlphaFold |
Q99MR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039991
AA Change: T47M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038106 Gene: ENSMUSG00000037344 AA Change: T47M
Domain | Start | End | E-Value | Type |
Pfam:AA_permease
|
42 |
536 |
1.8e-114 |
PFAM |
Pfam:SLC12
|
545 |
639 |
4.6e-13 |
PFAM |
low complexity region
|
804 |
817 |
N/A |
INTRINSIC |
low complexity region
|
845 |
866 |
N/A |
INTRINSIC |
low complexity region
|
871 |
888 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149847
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156646
AA Change: T47M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117757 Gene: ENSMUSG00000037344 AA Change: T47M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198569
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc12a9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01139:Slc12a9
|
APN |
5 |
137,321,104 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01288:Slc12a9
|
APN |
5 |
137,329,200 (GRCm39) |
splice site |
probably null |
|
IGL01829:Slc12a9
|
APN |
5 |
137,325,627 (GRCm39) |
splice site |
probably benign |
|
IGL02379:Slc12a9
|
APN |
5 |
137,319,691 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02975:Slc12a9
|
APN |
5 |
137,320,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R0145:Slc12a9
|
UTSW |
5 |
137,313,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Slc12a9
|
UTSW |
5 |
137,321,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Slc12a9
|
UTSW |
5 |
137,313,638 (GRCm39) |
missense |
probably benign |
0.01 |
R1004:Slc12a9
|
UTSW |
5 |
137,320,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Slc12a9
|
UTSW |
5 |
137,321,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R2280:Slc12a9
|
UTSW |
5 |
137,330,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R2425:Slc12a9
|
UTSW |
5 |
137,313,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R2909:Slc12a9
|
UTSW |
5 |
137,330,463 (GRCm39) |
missense |
probably benign |
|
R4255:Slc12a9
|
UTSW |
5 |
137,319,694 (GRCm39) |
missense |
probably damaging |
0.99 |
R4431:Slc12a9
|
UTSW |
5 |
137,319,775 (GRCm39) |
missense |
probably benign |
0.05 |
R5384:Slc12a9
|
UTSW |
5 |
137,329,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Slc12a9
|
UTSW |
5 |
137,319,665 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6682:Slc12a9
|
UTSW |
5 |
137,325,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6778:Slc12a9
|
UTSW |
5 |
137,313,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6977:Slc12a9
|
UTSW |
5 |
137,314,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Slc12a9
|
UTSW |
5 |
137,326,885 (GRCm39) |
nonsense |
probably null |
|
R7489:Slc12a9
|
UTSW |
5 |
137,321,082 (GRCm39) |
missense |
probably damaging |
0.96 |
R7491:Slc12a9
|
UTSW |
5 |
137,321,082 (GRCm39) |
missense |
probably damaging |
0.96 |
R7844:Slc12a9
|
UTSW |
5 |
137,330,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R7955:Slc12a9
|
UTSW |
5 |
137,323,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8351:Slc12a9
|
UTSW |
5 |
137,326,710 (GRCm39) |
missense |
probably benign |
|
R8351:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8352:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8393:Slc12a9
|
UTSW |
5 |
137,319,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R8450:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8451:Slc12a9
|
UTSW |
5 |
137,326,710 (GRCm39) |
missense |
probably benign |
|
R8451:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8452:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8475:Slc12a9
|
UTSW |
5 |
137,313,737 (GRCm39) |
missense |
probably benign |
0.06 |
R8712:Slc12a9
|
UTSW |
5 |
137,325,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Slc12a9
|
UTSW |
5 |
137,326,755 (GRCm39) |
missense |
probably benign |
|
R8955:Slc12a9
|
UTSW |
5 |
137,329,270 (GRCm39) |
missense |
probably damaging |
0.98 |
R9730:Slc12a9
|
UTSW |
5 |
137,325,732 (GRCm39) |
missense |
probably benign |
0.07 |
R9746:Slc12a9
|
UTSW |
5 |
137,319,671 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Slc12a9
|
UTSW |
5 |
137,323,812 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc12a9
|
UTSW |
5 |
137,320,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCAGTAGCATCGCCAAGG -3'
(R):5'- AGGTCTCCTAGCCCTTTTGTGG -3'
Sequencing Primer
(F):5'- GGTCACAAGGGATGCTTATATACCTC -3'
(R):5'- GTGGCTTCCTCTGCTGGC -3'
|
Posted On |
2015-02-19 |