Incidental Mutation 'IGL02868:Slc12a7'
ID |
362408 |
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 # |
IGL02868
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73954507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 897
(M897K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
|
AlphaFold |
Q9WVL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
AA Change: M897K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017900 Gene: ENSMUSG00000017756 AA Change: M897K
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 |
noncoding transcript
Transcript: ENSMUST00000220686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222309
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223454
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
probably benign |
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 |
|
IGL02285:Slc12a7
|
APN |
13 |
73,943,714 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
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 |
2015-12-18 |