Incidental Mutation 'IGL02285:Slc12a7'
| ID |
289977 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 73943714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
123 |
308 |
1e-22 |
PFAM |
|
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
410 |
696 |
1.5e-40 |
PFAM |
|
Pfam:SLC12
|
708 |
834 |
4.6e-18 |
PFAM |
|
Pfam:SLC12
|
818 |
1083 |
2.3e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223008
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,244,670 (GRCm39) |
V672A |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,187,536 (GRCm39) |
V253D |
possibly damaging |
Het |
| Atg3 |
G |
A |
16: 44,998,680 (GRCm39) |
|
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,814 (GRCm39) |
D1557G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 110,065,921 (GRCm39) |
T732A |
probably damaging |
Het |
| Cert1 |
A |
G |
13: 96,752,990 (GRCm39) |
H348R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,229 (GRCm39) |
I207F |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,683,649 (GRCm39) |
|
probably null |
Het |
| Drc7 |
A |
T |
8: 95,797,861 (GRCm39) |
|
probably benign |
Het |
| Drosha |
C |
A |
15: 12,833,950 (GRCm39) |
P18H |
unknown |
Het |
| Fbxl5 |
A |
G |
5: 43,922,690 (GRCm39) |
S243P |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,727,408 (GRCm39) |
C404R |
probably damaging |
Het |
| Gm5745 |
G |
A |
9: 73,082,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7808 |
T |
G |
9: 19,839,347 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
C |
T |
8: 5,690,373 (GRCm39) |
|
noncoding transcript |
Het |
| Hcn3 |
T |
C |
3: 89,060,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,519 (GRCm39) |
M23L |
probably benign |
Het |
| Kif26a |
A |
G |
12: 112,123,941 (GRCm39) |
D182G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,459,233 (GRCm39) |
|
probably benign |
Het |
| Lypd4 |
T |
A |
7: 24,564,865 (GRCm39) |
Q91L |
probably damaging |
Het |
| Ncoa5 |
C |
T |
2: 164,844,760 (GRCm39) |
A37T |
probably damaging |
Het |
| Or52ad1 |
G |
A |
7: 102,995,245 (GRCm39) |
R297* |
probably null |
Het |
| Or56b1 |
A |
G |
7: 104,284,932 (GRCm39) |
E17G |
probably benign |
Het |
| Or7g17 |
T |
A |
9: 18,768,286 (GRCm39) |
C122S |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,148 (GRCm39) |
K8E |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,634,387 (GRCm39) |
|
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 91,959,535 (GRCm39) |
F1122L |
possibly damaging |
Het |
| Rps15 |
G |
T |
10: 80,129,596 (GRCm39) |
M43I |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,592 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,616,098 (GRCm39) |
M588K |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,643 (GRCm39) |
V587A |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,847,181 (GRCm39) |
D34G |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,598 (GRCm39) |
I125F |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,702 (GRCm39) |
L120Q |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,711 (GRCm39) |
I144M |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,823 (GRCm39) |
F792S |
probably damaging |
Het |
| Vsnl1 |
A |
G |
12: 11,436,878 (GRCm39) |
F34L |
probably damaging |
Het |
|
| Other mutations in Slc12a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Slc12a7
|
APN |
13 |
73,942,201 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01086:Slc12a7
|
APN |
13 |
73,962,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01344:Slc12a7
|
APN |
13 |
73,940,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Slc12a7
|
APN |
13 |
73,947,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02039:Slc12a7
|
APN |
13 |
73,957,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02213:Slc12a7
|
APN |
13 |
73,945,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02422:Slc12a7
|
APN |
13 |
73,954,280 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02423:Slc12a7
|
APN |
13 |
73,911,882 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02596:Slc12a7
|
APN |
13 |
73,933,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02794:Slc12a7
|
APN |
13 |
73,957,206 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02813:Slc12a7
|
APN |
13 |
73,961,795 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02868:Slc12a7
|
APN |
13 |
73,954,507 (GRCm39) |
missense |
probably benign |
|
|
R0828:Slc12a7
|
UTSW |
13 |
73,936,771 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1440:Slc12a7
|
UTSW |
13 |
73,949,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Slc12a7
|
UTSW |
13 |
73,938,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Slc12a7
|
UTSW |
13 |
73,943,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2111:Slc12a7
|
UTSW |
13 |
73,933,274 (GRCm39) |
nonsense |
probably null |
|
|
R3023:Slc12a7
|
UTSW |
13 |
73,948,541 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3612:Slc12a7
|
UTSW |
13 |
73,958,042 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4210:Slc12a7
|
UTSW |
13 |
73,962,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Slc12a7
|
UTSW |
13 |
73,938,853 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4761:Slc12a7
|
UTSW |
13 |
73,961,708 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4801:Slc12a7
|
UTSW |
13 |
73,912,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4802:Slc12a7
|
UTSW |
13 |
73,912,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5002:Slc12a7
|
UTSW |
13 |
73,911,896 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5128:Slc12a7
|
UTSW |
13 |
73,953,552 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5594:Slc12a7
|
UTSW |
13 |
73,933,258 (GRCm39) |
missense |
probably benign |
|
|
R5760:Slc12a7
|
UTSW |
13 |
73,961,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Slc12a7
|
UTSW |
13 |
73,942,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6233:Slc12a7
|
UTSW |
13 |
73,953,590 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6693:Slc12a7
|
UTSW |
13 |
73,945,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6782:Slc12a7
|
UTSW |
13 |
73,947,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7169:Slc12a7
|
UTSW |
13 |
73,932,679 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7225:Slc12a7
|
UTSW |
13 |
73,912,081 (GRCm39) |
intron |
probably benign |
|
|
R7458:Slc12a7
|
UTSW |
13 |
73,933,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:Slc12a7
|
UTSW |
13 |
73,912,187 (GRCm39) |
intron |
probably benign |
|
|
R7565:Slc12a7
|
UTSW |
13 |
73,938,891 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7660:Slc12a7
|
UTSW |
13 |
73,954,208 (GRCm39) |
missense |
probably benign |
|
|
R7737:Slc12a7
|
UTSW |
13 |
73,936,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7783:Slc12a7
|
UTSW |
13 |
73,953,588 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7875:Slc12a7
|
UTSW |
13 |
73,936,723 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8017:Slc12a7
|
UTSW |
13 |
73,947,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Slc12a7
|
UTSW |
13 |
73,947,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Slc12a7
|
UTSW |
13 |
73,938,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Slc12a7
|
UTSW |
13 |
73,933,281 (GRCm39) |
missense |
probably benign |
|
|
R8747:Slc12a7
|
UTSW |
13 |
73,933,241 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8920:Slc12a7
|
UTSW |
13 |
73,946,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Slc12a7
|
UTSW |
13 |
73,954,089 (GRCm39) |
intron |
probably benign |
|
|
R9292:Slc12a7
|
UTSW |
13 |
73,932,707 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9381:Slc12a7
|
UTSW |
13 |
73,949,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Slc12a7
|
UTSW |
13 |
73,932,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9521:Slc12a7
|
UTSW |
13 |
73,947,087 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9687:Slc12a7
|
UTSW |
13 |
73,938,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Slc12a7
|
UTSW |
13 |
73,936,727 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0028:Slc12a7
|
UTSW |
13 |
73,946,660 (GRCm39) |
splice site |
probably null |
|
|
X0065:Slc12a7
|
UTSW |
13 |
73,949,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation