Incidental Mutation 'R2909:Slc12a9'
| ID |
261132 |
| 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 |
040496-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.445)
|
| Stock # |
R2909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137312820-137331859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137330463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
| 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: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: I81V
| 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: ENSMUST00000149847
|
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
| Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
| Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
| Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
| Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
| Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
| Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
| Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
| Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
| Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
| Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
| Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
| Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
| Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
| Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
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 |
|
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 |
|
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'- GTGCTGGTCACCTTTACTGG -3'
(R):5'- CCCTAGTACATGTGGTCAGATG -3'
Sequencing Primer
(F):5'- CTGGCTATATTCATTAACATTTGGCC -3'
(R):5'- CTAGTACATGTGGTCAGATGGAGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation