Incidental Mutation 'R6682:Slc12a9'
ID |
527536 |
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 |
044801-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.445)
|
Stock # |
R6682 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 137325663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 316
(L316Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039991]
|
AlphaFold |
Q99MR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039991
AA Change: L316Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038106 Gene: ENSMUSG00000037344 AA Change: L316Q
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: ENSMUST00000141517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149847
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
Cndp2 |
T |
C |
18: 84,695,455 (GRCm39) |
K149E |
probably benign |
Het |
Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
Cpt2 |
G |
T |
4: 107,761,627 (GRCm39) |
S158R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
Gak |
T |
A |
5: 108,746,742 (GRCm39) |
K430I |
probably damaging |
Het |
Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
Mrps35 |
A |
T |
6: 146,949,777 (GRCm39) |
E97V |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
Uhmk1 |
C |
T |
1: 170,039,804 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
possibly damaging |
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 |
|
R3617:Slc12a9
|
UTSW |
5 |
137,330,759 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TAGCACCAATGGGAGAAGCTATC -3'
(R):5'- CCATGATGACTTTCGCCAGTG -3'
Sequencing Primer
(F):5'- AGAAGCTATCTCCACCTGTCC -3'
(R):5'- AACATGTCAGGTGAGAGTCTGCTC -3'
|
Posted On |
2018-07-23 |