Incidental Mutation 'R8747:Slc12a7'
| ID |
663622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| MMRRC Submission |
068618-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73933241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 100
(V100I)
|
| 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: V100I
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V100I
| 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: 98.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,240 (GRCm39) |
D190G |
probably benign |
Het |
| Abhd11 |
A |
G |
5: 135,040,760 (GRCm39) |
I271V |
possibly damaging |
Het |
| Akap6 |
T |
G |
12: 53,188,999 (GRCm39) |
S2138A |
probably benign |
Het |
| Amn |
C |
A |
12: 111,241,440 (GRCm39) |
P235H |
probably damaging |
Het |
| Arf2 |
A |
T |
11: 103,859,975 (GRCm39) |
M18L |
probably benign |
Het |
| Asic2 |
A |
T |
11: 81,043,233 (GRCm39) |
F20Y |
possibly damaging |
Het |
| Bok |
T |
C |
1: 93,622,664 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
T |
A |
4: 100,860,045 (GRCm39) |
|
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,883,617 (GRCm39) |
N308S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,154 (GRCm39) |
H71Q |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,646 (GRCm39) |
I713V |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,093,354 (GRCm39) |
|
probably null |
Het |
| Cmas |
T |
C |
6: 142,716,927 (GRCm39) |
I273T |
possibly damaging |
Het |
| Ctxn3 |
A |
T |
18: 57,610,378 (GRCm39) |
D65V |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,705 (GRCm39) |
N387K |
probably benign |
Het |
| Depp1 |
T |
A |
6: 116,629,122 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,818,816 (GRCm39) |
K3174R |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,828,632 (GRCm39) |
V934I |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,603,793 (GRCm39) |
N157S |
probably damaging |
Het |
| Ets1 |
G |
A |
9: 32,641,474 (GRCm39) |
G109D |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,734,754 (GRCm39) |
R173C |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,096,035 (GRCm39) |
P525L |
probably benign |
Het |
| Gmppa |
G |
A |
1: 75,416,025 (GRCm39) |
V156I |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,603,482 (GRCm39) |
D182G |
|
Het |
| Ift140 |
T |
A |
17: 25,254,809 (GRCm39) |
S430T |
probably benign |
Het |
| Kat7 |
G |
C |
11: 95,185,392 (GRCm39) |
C161W |
probably damaging |
Het |
| Lipk |
T |
A |
19: 33,996,184 (GRCm39) |
M32K |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,351 (GRCm39) |
D82V |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,248,944 (GRCm39) |
A7196S |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,964,782 (GRCm39) |
S926T |
probably damaging |
Het |
| Nbn |
G |
T |
4: 15,981,555 (GRCm39) |
R549I |
probably damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,400 (GRCm39) |
I117T |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,139 (GRCm39) |
T117A |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,155 (GRCm39) |
T50A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,422,275 (GRCm39) |
L778P |
probably damaging |
Het |
| Pbld2 |
G |
T |
10: 62,888,069 (GRCm39) |
V125F |
probably benign |
Het |
| Prkag2 |
A |
G |
5: 25,085,680 (GRCm39) |
|
probably null |
Het |
| Prss54 |
A |
G |
8: 96,286,351 (GRCm39) |
F241L |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,678,316 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc28a1 |
C |
T |
7: 80,774,719 (GRCm39) |
L189F |
possibly damaging |
Het |
| Slc35a3 |
T |
C |
3: 116,488,219 (GRCm39) |
Q16R |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,686,577 (GRCm39) |
F354L |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,723,539 (GRCm39) |
I447T |
probably benign |
Het |
| Tagap |
T |
A |
17: 8,147,602 (GRCm39) |
I104N |
probably damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,387,318 (GRCm39) |
D259G |
probably benign |
Het |
| Tgm3 |
T |
C |
2: 129,886,452 (GRCm39) |
S558P |
probably benign |
Het |
| Tuba3a |
A |
G |
6: 125,258,018 (GRCm39) |
V324A |
probably damaging |
Het |
| Vmn1r238 |
T |
G |
18: 3,123,232 (GRCm39) |
I61L |
possibly damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,451 (GRCm39) |
T252A |
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,492,885 (GRCm39) |
V308A |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,874,611 (GRCm39) |
V159G |
|
Het |
| Zfp180 |
A |
G |
7: 23,804,687 (GRCm39) |
T369A |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,755,316 (GRCm39) |
M1V |
probably null |
Het |
| Zmym4 |
A |
G |
4: 126,787,198 (GRCm39) |
I1031T |
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 |
|
|
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 |
|
R8342:Slc12a7
|
UTSW |
13 |
73,933,281 (GRCm39) |
missense |
probably benign |
|
|
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'- ACTGTGGGCTCTTGAGCTCTAC -3'
(R):5'- ACCTTGTCCCTTCCCAGAAG -3'
Sequencing Primer
(F):5'- GGCTCTTGAGCTCTACACAGC -3'
(R):5'- TGTCCACTGAGACACGGTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation