Incidental Mutation 'R6693:Slc12a7'
| ID |
528182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73733094-73816754 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73797537 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 489
(A489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
AA Change: A489S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: A489S
| 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: ENSMUST00000220686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223008
|
| Meta Mutation Damage Score |
0.1078 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 138,069,154 (GRCm38) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,965,515 (GRCm38) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 40,754,531 (GRCm38) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,342,886 (GRCm38) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,770,224 (GRCm38) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,466,517 (GRCm38) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,917,286 (GRCm38) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,877,422 (GRCm38) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,285,912 (GRCm38) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,788,044 (GRCm38) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,209,101 (GRCm38) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,478,976 (GRCm38) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,351,227 (GRCm38) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,286,480 (GRCm38) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,866,813 (GRCm38) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,645,278 (GRCm38) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,473,808 (GRCm38) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm38) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,245,731 (GRCm38) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,698,337 (GRCm38) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 39,018,801 (GRCm38) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,903,308 (GRCm38) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,709,731 (GRCm38) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,474,341 (GRCm38) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,111,126 (GRCm38) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,174,111 (GRCm38) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,573,829 (GRCm38) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,436,020 (GRCm38) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 92,940,758 (GRCm38) |
A456T |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,303,064 (GRCm38) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,880,134 (GRCm38) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,568,667 (GRCm38) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 70,850,890 (GRCm38) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm38) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 178,033,431 (GRCm38) |
K274N |
probably benign |
Het |
|
| Other mutations in Slc12a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Slc12a7
|
APN |
13 |
73,794,082 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01086:Slc12a7
|
APN |
13 |
73,814,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01344:Slc12a7
|
APN |
13 |
73,792,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01739:Slc12a7
|
APN |
13 |
73,799,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02039:Slc12a7
|
APN |
13 |
73,809,094 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02213:Slc12a7
|
APN |
13 |
73,797,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02285:Slc12a7
|
APN |
13 |
73,795,595 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02422:Slc12a7
|
APN |
13 |
73,806,161 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02423:Slc12a7
|
APN |
13 |
73,763,763 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02596:Slc12a7
|
APN |
13 |
73,785,123 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02794:Slc12a7
|
APN |
13 |
73,809,087 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02813:Slc12a7
|
APN |
13 |
73,813,676 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02868:Slc12a7
|
APN |
13 |
73,806,388 (GRCm38) |
missense |
probably benign |
|
|
R0828:Slc12a7
|
UTSW |
13 |
73,788,652 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1440:Slc12a7
|
UTSW |
13 |
73,801,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1659:Slc12a7
|
UTSW |
13 |
73,790,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1669:Slc12a7
|
UTSW |
13 |
73,795,113 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2111:Slc12a7
|
UTSW |
13 |
73,785,155 (GRCm38) |
nonsense |
probably null |
|
|
R3023:Slc12a7
|
UTSW |
13 |
73,800,422 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3612:Slc12a7
|
UTSW |
13 |
73,809,923 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4210:Slc12a7
|
UTSW |
13 |
73,814,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4353:Slc12a7
|
UTSW |
13 |
73,790,734 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R4761:Slc12a7
|
UTSW |
13 |
73,813,589 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4801:Slc12a7
|
UTSW |
13 |
73,763,892 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4802:Slc12a7
|
UTSW |
13 |
73,763,892 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5002:Slc12a7
|
UTSW |
13 |
73,763,777 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5128:Slc12a7
|
UTSW |
13 |
73,805,433 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5594:Slc12a7
|
UTSW |
13 |
73,785,139 (GRCm38) |
missense |
probably benign |
|
|
R5760:Slc12a7
|
UTSW |
13 |
73,813,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5854:Slc12a7
|
UTSW |
13 |
73,793,940 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6233:Slc12a7
|
UTSW |
13 |
73,805,471 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6782:Slc12a7
|
UTSW |
13 |
73,798,969 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7169:Slc12a7
|
UTSW |
13 |
73,784,560 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7225:Slc12a7
|
UTSW |
13 |
73,763,962 (GRCm38) |
intron |
probably benign |
|
|
R7458:Slc12a7
|
UTSW |
13 |
73,785,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7534:Slc12a7
|
UTSW |
13 |
73,764,068 (GRCm38) |
intron |
probably benign |
|
|
R7565:Slc12a7
|
UTSW |
13 |
73,790,772 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7660:Slc12a7
|
UTSW |
13 |
73,806,089 (GRCm38) |
missense |
probably benign |
|
|
R7737:Slc12a7
|
UTSW |
13 |
73,788,677 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7783:Slc12a7
|
UTSW |
13 |
73,805,469 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7875:Slc12a7
|
UTSW |
13 |
73,788,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8017:Slc12a7
|
UTSW |
13 |
73,799,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8019:Slc12a7
|
UTSW |
13 |
73,799,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8281:Slc12a7
|
UTSW |
13 |
73,790,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8342:Slc12a7
|
UTSW |
13 |
73,785,162 (GRCm38) |
missense |
probably benign |
|
|
R8747:Slc12a7
|
UTSW |
13 |
73,785,122 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8920:Slc12a7
|
UTSW |
13 |
73,798,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Slc12a7
|
UTSW |
13 |
73,805,970 (GRCm38) |
intron |
probably benign |
|
|
R9292:Slc12a7
|
UTSW |
13 |
73,784,588 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9381:Slc12a7
|
UTSW |
13 |
73,800,944 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9400:Slc12a7
|
UTSW |
13 |
73,784,570 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9521:Slc12a7
|
UTSW |
13 |
73,798,968 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9687:Slc12a7
|
UTSW |
13 |
73,790,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Slc12a7
|
UTSW |
13 |
73,788,608 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0028:Slc12a7
|
UTSW |
13 |
73,798,541 (GRCm38) |
splice site |
probably null |
|
|
X0065:Slc12a7
|
UTSW |
13 |
73,800,945 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACAGTTTCAAGCCACCTAAG -3'
(R):5'- TTCATCTGCTGCACCTTGAG -3'
Sequencing Primer
(F):5'- AGCCACCTAAGCCCTTTCTGAG -3'
(R):5'- TGAGTGAAGGACTCACCT -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation