Incidental Mutation 'R7458:Slc12a7'
ID |
578266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a7
|
Ensembl Gene |
ENSMUSG00000017756 |
Gene Name |
solute carrier family 12, member 7 |
Synonyms |
Kcc4 |
MMRRC Submission |
045532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7458 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73933188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 82
(V82E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
AlphaFold |
Q9WVL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017900
AA Change: V82E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017900 Gene: ENSMUSG00000017756 AA Change: V82E
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 |
probably benign
Transcript: ENSMUST00000220535
|
Meta Mutation Damage Score |
0.3685 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
T |
5: 113,338,510 (GRCm39) |
V501M |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,240,777 (GRCm39) |
F880S |
possibly damaging |
Het |
AI182371 |
T |
A |
2: 34,976,516 (GRCm39) |
R206S |
possibly damaging |
Het |
Akr1a1 |
A |
T |
4: 116,495,014 (GRCm39) |
M286K |
possibly damaging |
Het |
Aldh8a1 |
A |
G |
10: 21,271,492 (GRCm39) |
E406G |
possibly damaging |
Het |
Ambra1 |
T |
A |
2: 91,748,029 (GRCm39) |
V1255D |
probably benign |
Het |
Apol7e |
C |
T |
15: 77,598,604 (GRCm39) |
T23I |
probably benign |
Het |
Armh4 |
T |
C |
14: 49,920,196 (GRCm39) |
Y711C |
probably damaging |
Het |
Boc |
T |
C |
16: 44,307,119 (GRCm39) |
E1034G |
|
Het |
Bricd5 |
T |
C |
17: 24,693,476 (GRCm39) |
I39T |
probably damaging |
Het |
Ccne1 |
T |
C |
7: 37,800,096 (GRCm39) |
T163A |
probably damaging |
Het |
Cct7 |
T |
C |
6: 85,436,978 (GRCm39) |
V72A |
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,263,779 (GRCm39) |
D199G |
probably damaging |
Het |
Clip1 |
T |
G |
5: 123,778,609 (GRCm39) |
E438A |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,476,669 (GRCm39) |
I553M |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,003,738 (GRCm39) |
N2605K |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,155,094 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
A |
2: 125,161,036 (GRCm39) |
D2168V |
probably benign |
Het |
G2e3 |
T |
A |
12: 51,412,290 (GRCm39) |
N443K |
possibly damaging |
Het |
Gak |
T |
C |
5: 108,730,940 (GRCm39) |
D822G |
probably benign |
Het |
Gm9493 |
A |
G |
19: 23,597,277 (GRCm39) |
I58V |
probably benign |
Het |
Gpr65 |
T |
G |
12: 98,242,324 (GRCm39) |
S326A |
probably damaging |
Het |
Irs2 |
T |
C |
8: 11,057,739 (GRCm39) |
E231G |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,122,802 (GRCm39) |
D718G |
probably benign |
Het |
Itih1 |
T |
C |
14: 30,665,223 (GRCm39) |
M1V |
probably null |
Het |
Lgr5 |
A |
G |
10: 115,293,660 (GRCm39) |
|
probably null |
Het |
Lipn |
A |
G |
19: 34,049,242 (GRCm39) |
N136S |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,388,258 (GRCm39) |
T2389I |
unknown |
Het |
Myo7b |
G |
A |
18: 32,121,604 (GRCm39) |
A767V |
possibly damaging |
Het |
Necab1 |
A |
T |
4: 15,111,244 (GRCm39) |
S61R |
possibly damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,994 (GRCm39) |
T278A |
probably damaging |
Het |
Phyhip |
G |
A |
14: 70,699,260 (GRCm39) |
R21H |
probably damaging |
Het |
Pls1 |
G |
A |
9: 95,667,560 (GRCm39) |
T116I |
probably damaging |
Het |
Pnn |
C |
A |
12: 59,119,200 (GRCm39) |
S594R |
unknown |
Het |
Psen1 |
T |
A |
12: 83,761,540 (GRCm39) |
I114N |
probably damaging |
Het |
Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
Slc25a44 |
A |
G |
3: 88,323,368 (GRCm39) |
I246T |
probably benign |
Het |
Slc2a13 |
T |
A |
15: 91,296,390 (GRCm39) |
Y308F |
probably benign |
Het |
Sntb2 |
C |
A |
8: 107,662,930 (GRCm39) |
A166E |
possibly damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,881 (GRCm39) |
V140D |
possibly damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,937 (GRCm39) |
T1704A |
probably benign |
Het |
Txndc12 |
A |
G |
4: 108,718,606 (GRCm39) |
D159G |
probably benign |
Het |
Ubash3a |
T |
C |
17: 31,427,139 (GRCm39) |
L16P |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,692,532 (GRCm39) |
D108G |
probably benign |
Het |
Vmn2r58 |
C |
A |
7: 41,487,123 (GRCm39) |
A591S |
probably benign |
Het |
Wdpcp |
T |
C |
11: 21,698,919 (GRCm39) |
I566T |
probably damaging |
Het |
Zfp866 |
T |
A |
8: 70,218,202 (GRCm39) |
K473* |
probably null |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGATGTTCTGGGCACACAG -3'
(R):5'- ATGGTCAAGCCTCATGAAGGG -3'
Sequencing Primer
(F):5'- TTCTGGGCACACAGATGGG -3'
(R):5'- GGCACACGTGATCTGAAAACCTG -3'
|
Posted On |
2019-10-07 |