Incidental Mutation 'R8342:Slc12a7'
| ID |
644974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| MMRRC Submission |
067731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73933281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 113
(V113A)
|
| 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: V113A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V113A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,963,321 (GRCm39) |
D917G |
unknown |
Het |
| Adad1 |
T |
C |
3: 37,134,050 (GRCm39) |
S322P |
probably damaging |
Het |
| Agbl4 |
C |
T |
4: 110,976,224 (GRCm39) |
L194F |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,271 (GRCm39) |
G250R |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,024,310 (GRCm39) |
I226N |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,691,619 (GRCm39) |
V1114A |
probably damaging |
Het |
| Ankrd49 |
C |
A |
9: 14,692,823 (GRCm39) |
A114S |
probably damaging |
Het |
| Arl6 |
C |
T |
16: 59,442,802 (GRCm39) |
G140D |
unknown |
Het |
| Arrdc3 |
A |
G |
13: 81,031,790 (GRCm39) |
S8G |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,105,495 (GRCm39) |
V298E |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,554,035 (GRCm39) |
I71V |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,546,166 (GRCm39) |
M112V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,940,383 (GRCm39) |
A152T |
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,706 (GRCm39) |
F251V |
probably damaging |
Het |
| Cdkl1 |
A |
T |
12: 69,800,952 (GRCm39) |
F229I |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,171 (GRCm39) |
Y556F |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,849,615 (GRCm39) |
N442S |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,436,707 (GRCm39) |
D1602E |
possibly damaging |
Het |
| Col9a3 |
A |
T |
2: 180,245,183 (GRCm39) |
I131F |
unknown |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,733 (GRCm39) |
D110V |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,968,457 (GRCm39) |
I1258V |
probably benign |
Het |
| Dpyd |
A |
G |
3: 119,108,452 (GRCm39) |
T832A |
possibly damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,693 (GRCm39) |
Y189C |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,838 (GRCm39) |
T181A |
|
Het |
| Kif1b |
T |
C |
4: 149,306,805 (GRCm39) |
M852V |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 43,665,508 (GRCm39) |
I139F |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,493,681 (GRCm39) |
V1547M |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,318,790 (GRCm39) |
T876A |
probably damaging |
Het |
| Malrd1 |
G |
T |
2: 15,638,035 (GRCm39) |
W451L |
unknown |
Het |
| Marchf6 |
A |
T |
15: 31,494,262 (GRCm39) |
N261K |
possibly damaging |
Het |
| Mcpt2 |
T |
C |
14: 56,280,250 (GRCm39) |
C50R |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,981 (GRCm39) |
V846A |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,414,602 (GRCm39) |
D2516V |
unknown |
Het |
| Myh15 |
T |
C |
16: 48,913,120 (GRCm39) |
L359P |
probably benign |
Het |
| Nemp1 |
G |
A |
10: 127,528,898 (GRCm39) |
V201I |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,444,425 (GRCm39) |
L228Q |
probably damaging |
Het |
| Nrg1 |
C |
A |
8: 32,312,334 (GRCm39) |
V388L |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,734,053 (GRCm39) |
T278S |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,854,990 (GRCm39) |
E112G |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,036,778 (GRCm39) |
S185P |
probably damaging |
Het |
| Or8g2b |
A |
C |
9: 39,751,612 (GRCm39) |
N294T |
probably damaging |
Het |
| Pdlim2 |
C |
A |
14: 70,403,563 (GRCm39) |
C283F |
probably damaging |
Het |
| Potegl |
T |
A |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Ppm1a |
G |
A |
12: 72,830,909 (GRCm39) |
G145R |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,809 (GRCm39) |
D44V |
probably benign |
Het |
| Pramel18 |
A |
T |
4: 101,767,581 (GRCm39) |
M277L |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,103,027 (GRCm39) |
Q2729K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn9a |
G |
T |
2: 66,366,626 (GRCm39) |
T719K |
probably benign |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,149,510 (GRCm39) |
|
probably null |
Het |
| Steap1 |
G |
A |
5: 5,790,816 (GRCm39) |
S44L |
probably benign |
Het |
| Sucnr1 |
C |
T |
3: 59,994,155 (GRCm39) |
R228C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,742,517 (GRCm39) |
G48D |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,302,891 (GRCm39) |
V88D |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,058,622 (GRCm39) |
D7297G |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,710,734 (GRCm39) |
I18T |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,608,601 (GRCm39) |
L230P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,719,785 (GRCm39) |
N7108S |
unknown |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt1a7c |
T |
C |
1: 88,022,973 (GRCm39) |
V44A |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,790,494 (GRCm39) |
S494C |
possibly 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 |
|
|
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 |
|
|
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 |
|
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'- TCTTGAGCTCTACACAGCCC -3'
(R):5'- ACCTTGTCCCTTCCCAGAAG -3'
Sequencing Primer
(F):5'- ACAGATGGATCTCCTGGGC -3'
(R):5'- CCAGAAGCTGGTGGTGTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation