Incidental Mutation 'R4431:Slc12a9'
| ID |
328609 |
| 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 |
041146-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.424)
|
| Stock # |
R4431 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137319775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 580
(P580L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039991]
|
| AlphaFold |
Q99MR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039991
AA Change: P580L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: P580L
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| 2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
| Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
| Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
| Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
| Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
| Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
| Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
| Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
| Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
| Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
probably 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 |
|
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 |
|
| Posted On |
2015-07-21 |
Incidental Mutation