Incidental Mutation 'R4255:Slc12a9'
ID |
321776 |
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 |
041068-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.424)
|
Stock # |
R4255 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137319694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 607
(R607H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039991]
|
AlphaFold |
Q99MR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039991
AA Change: R607H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038106 Gene: ENSMUSG00000037344 AA Change: R607H
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
|
Meta Mutation Damage Score |
0.5614 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
93% (50/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
Gpc6 |
A |
G |
14: 118,188,553 (GRCm39) |
T396A |
probably benign |
Het |
Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
Myo1h |
T |
C |
5: 114,468,198 (GRCm39) |
I331T |
possibly damaging |
Het |
Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,474,791 (GRCm39) |
E640K |
possibly damaging |
Het |
Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
Spata31d1c |
C |
G |
13: 65,183,502 (GRCm39) |
S348* |
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,531 (GRCm39) |
F358L |
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
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 |
|
R3617:Slc12a9
|
UTSW |
5 |
137,330,759 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACACTGTGGTCACTGTCAGAC -3'
(R):5'- GCCAATAGTTGTTGCCCCTAC -3'
Sequencing Primer
(F):5'- AGTCTACTGCTATTATCTTTGGCTAC -3'
(R):5'- AGTACCTTGCACATGCTGG -3'
|
Posted On |
2015-06-20 |