Incidental Mutation 'R8452:Slc12a9'
| ID |
654800 |
| 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 |
067903-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.445)
|
| Stock # |
R8452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 137313737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 741
(V741L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024119]
[ENSMUST00000039991]
[ENSMUST00000199121]
|
| AlphaFold |
Q99MR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024119
|
| SMART Domains |
Protein: ENSMUSP00000024119
Gene: ENSMUSG00000023348
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
262 |
N/A |
INTRINSIC |
|
LIM
|
282 |
335 |
4.59e-14 |
SMART |
|
LIM
|
342 |
394 |
1.41e-14 |
SMART |
|
LIM
|
402 |
464 |
5.65e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039991
AA Change: V741L
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: V741L
| 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 |
probably benign
Transcript: ENSMUST00000199121
|
| Meta Mutation Damage Score |
0.1458 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Actl7b |
T |
A |
4: 56,740,251 (GRCm39) |
D369V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,804 (GRCm39) |
D900G |
possibly damaging |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,377 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cdkal1 |
G |
A |
13: 29,538,663 (GRCm39) |
P499S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpp |
A |
G |
13: 49,683,887 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Cox8b |
T |
A |
7: 140,478,929 (GRCm39) |
E62V |
probably null |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,162 (GRCm39) |
A342T |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,997 (GRCm39) |
Y112H |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,241,261 (GRCm39) |
A212D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,466,986 (GRCm39) |
E3626G |
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,720 (GRCm39) |
E449G |
possibly damaging |
Het |
| Fam187a |
C |
A |
11: 102,777,400 (GRCm39) |
C401* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,814,937 (GRCm39) |
I3557L |
probably benign |
Het |
| Gm30083 |
C |
T |
14: 33,712,279 (GRCm39) |
|
probably null |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| H2bc7 |
A |
G |
13: 23,758,219 (GRCm39) |
V49A |
probably damaging |
Het |
| Ifi213 |
T |
C |
1: 173,422,835 (GRCm39) |
K10R |
possibly damaging |
Het |
| Morc2b |
T |
C |
17: 33,356,476 (GRCm39) |
D432G |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,425 (GRCm39) |
I59F |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,818,374 (GRCm39) |
D361E |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,863,510 (GRCm39) |
S28P |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,876,260 (GRCm39) |
V284D |
probably damaging |
Het |
| Nrip2 |
A |
T |
6: 128,384,957 (GRCm39) |
D203V |
probably damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,047 (GRCm39) |
Y495N |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,829,103 (GRCm39) |
C171S |
probably damaging |
Het |
| Or52n4 |
A |
T |
7: 104,293,736 (GRCm39) |
V281E |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,459 (GRCm39) |
L172M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,647 (GRCm39) |
M151L |
probably benign |
Het |
| Pacrg |
T |
A |
17: 10,795,523 (GRCm39) |
R146* |
probably null |
Het |
| Pcdh18 |
A |
T |
3: 49,699,624 (GRCm39) |
M946K |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,575,917 (GRCm39) |
I241T |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,243,639 (GRCm39) |
I944T |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,510,511 (GRCm39) |
F99L |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,431,493 (GRCm39) |
N756K |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,355,363 (GRCm39) |
M1555L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,355,364 (GRCm39) |
M1555R |
probably benign |
Het |
| Prl3c1 |
T |
A |
13: 27,386,385 (GRCm39) |
D123E |
probably benign |
Het |
| Prr22 |
G |
A |
17: 57,078,311 (GRCm39) |
G155R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,698,899 (GRCm39) |
D1132G |
probably damaging |
Het |
| Rnf180 |
A |
T |
13: 105,318,056 (GRCm39) |
F452Y |
probably damaging |
Het |
| Scn4b |
A |
T |
9: 45,058,039 (GRCm39) |
I44F |
possibly damaging |
Het |
| Selenon |
A |
T |
4: 134,275,398 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,607,410 (GRCm39) |
I291L |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,444,438 (GRCm39) |
R174S |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,914,428 (GRCm39) |
F2370L |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,844,202 (GRCm39) |
H115L |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,381 (GRCm39) |
T1345S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,831 (GRCm39) |
N27354I |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,290 (GRCm39) |
Y854H |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,689,253 (GRCm39) |
W11R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,577 (GRCm39) |
Q347R |
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 |
|
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 |
|
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'- ATTGGCACTGCAAGCTAGAGC -3'
(R):5'- AGCCTTCTCTGAACCTGCAG -3'
Sequencing Primer
(F):5'- TGCAAGCTAGAGCCTCAGC -3'
(R):5'- TCTGAACCTGCAGAGGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation