Incidental Mutation 'R8350:Slc12a9'
| ID |
645465 |
| 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 |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.445)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
| Akirin2 |
T |
A |
4: 34,551,082 (GRCm39) |
F13Y |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,564,445 (GRCm39) |
L271S |
|
Het |
| Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
| Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
| Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
| Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
T |
5: 104,360,765 (GRCm39) |
K480N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
| Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
| Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
| Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
| Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
| Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
| Hsd17b4 |
T |
G |
18: 50,297,734 (GRCm39) |
L341R |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
| Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,759,024 (GRCm39) |
N143S |
probably benign |
Het |
| Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
| Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
| Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
| Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
| Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
| Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,152,787 (GRCm39) |
T107A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
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 |
|
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'- CATTGGCACTGCAAGCTAGAG -3'
(R):5'- AGCCTTCTCTGAACCTGCAG -3'
Sequencing Primer
(F):5'- TGCAAGCTAGAGCCTCAGC -3'
(R):5'- TCTGAACCTGCAGAGGGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation