Incidental Mutation 'R9730:Slc12a9'
ID |
736008 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.445)
|
Stock # |
R9730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137325732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 293
(D293V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039991]
[ENSMUST00000156646]
|
AlphaFold |
Q99MR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039991
AA Change: D293V
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000038106 Gene: ENSMUSG00000037344 AA Change: D293V
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: ENSMUST00000156646
|
SMART Domains |
Protein: ENSMUSP00000117757 Gene: ENSMUSG00000037344
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
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 |
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 |
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'- ACCTACTGGTCAACCTGTGTTG -3'
(R):5'- CAGGGGCCATGATGACTTTC -3'
Sequencing Primer
(F):5'- AACCTGTGTTGACCCAGGG -3'
(R):5'- GCCATGATGACTTTCGCCAGTG -3'
|
Posted On |
2022-11-14 |