Incidental Mutation 'IGL02422:Slc12a7'
| ID |
292722 |
| 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 # |
IGL02422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73954280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 857
(M857T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
AA Change: M857T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: M857T
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,821 (GRCm39) |
|
noncoding transcript |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Aak1 |
A |
T |
6: 86,959,598 (GRCm39) |
T846S |
unknown |
Het |
| Adgrl1 |
A |
G |
8: 84,664,115 (GRCm39) |
D1149G |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,778,017 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,720,170 (GRCm39) |
V139A |
possibly damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,371,522 (GRCm39) |
R224* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,976,386 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,412,092 (GRCm39) |
V988D |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,533,823 (GRCm39) |
E47G |
probably damaging |
Het |
| Cdkn2aip |
G |
A |
8: 48,164,534 (GRCm39) |
S393L |
probably damaging |
Het |
| Cep20 |
T |
G |
16: 14,118,070 (GRCm39) |
D150A |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,722,896 (GRCm39) |
N217K |
probably damaging |
Het |
| Dapp1 |
A |
T |
3: 137,667,260 (GRCm39) |
S101T |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,462,660 (GRCm39) |
I242V |
probably null |
Het |
| Dpy19l4 |
T |
C |
4: 11,265,803 (GRCm39) |
N715S |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,606,644 (GRCm39) |
E2511G |
possibly damaging |
Het |
| Gm9839 |
T |
A |
1: 32,558,943 (GRCm39) |
|
probably benign |
Het |
| Grn |
A |
G |
11: 102,327,084 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
T |
C |
7: 30,359,571 (GRCm39) |
T196A |
possibly damaging |
Het |
| Ik |
A |
G |
18: 36,886,313 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
T |
G |
1: 87,635,854 (GRCm39) |
F473C |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,680,187 (GRCm39) |
S841R |
probably damaging |
Het |
| Lipn |
G |
A |
19: 34,046,063 (GRCm39) |
C12Y |
probably benign |
Het |
| Ltbp4 |
G |
T |
7: 27,019,097 (GRCm39) |
P1074Q |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,741,535 (GRCm39) |
S65P |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,426,439 (GRCm39) |
F127S |
possibly damaging |
Het |
| Or8k37 |
A |
G |
2: 86,469,560 (GRCm39) |
F164S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,503 (GRCm39) |
D336G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,871,237 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
A |
T |
1: 64,961,025 (GRCm39) |
C410* |
probably null |
Het |
| Ppm1f |
T |
A |
16: 16,735,580 (GRCm39) |
H265Q |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,617,947 (GRCm39) |
T207A |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,719,592 (GRCm39) |
N947K |
probably damaging |
Het |
| Rpl3l |
C |
A |
17: 24,952,962 (GRCm39) |
Y307* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,857,124 (GRCm39) |
S703P |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,122,275 (GRCm39) |
D110G |
probably benign |
Het |
| Spata32 |
A |
T |
11: 103,099,706 (GRCm39) |
N266K |
probably benign |
Het |
| Spata9 |
A |
G |
13: 76,141,193 (GRCm39) |
I147V |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,417,000 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,715,064 (GRCm39) |
I95T |
probably benign |
Het |
| Usp17ld |
T |
A |
7: 102,899,967 (GRCm39) |
M322L |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation