Incidental Mutation 'IGL02423:Slc12a7'
| ID |
292807 |
| 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 # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 73911882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
| 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: ENSMUST00000221196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222742
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,109,832 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,756 (GRCm39) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,983,467 (GRCm39) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,733,830 (GRCm39) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,210,220 (GRCm39) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,911 (GRCm39) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,350,927 (GRCm39) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,905 (GRCm39) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,483,800 (GRCm39) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,923 (GRCm39) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,032 (GRCm39) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,081,097 (GRCm39) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,762,144 (GRCm39) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,378 (GRCm39) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,894,827 (GRCm39) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,507,732 (GRCm39) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,819,732 (GRCm39) |
M540R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,824 (GRCm39) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,498,248 (GRCm39) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,740,718 (GRCm39) |
M2163K |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,450 (GRCm39) |
V244A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,391,050 (GRCm39) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,590,987 (GRCm39) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,481,680 (GRCm39) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,726,045 (GRCm39) |
D317G |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,054,539 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,164,858 (GRCm39) |
S218T |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,397 (GRCm39) |
V216I |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,392 (GRCm39) |
V590A |
possibly damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,734 (GRCm39) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,510,524 (GRCm39) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,118 (GRCm39) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm39) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,302,943 (GRCm39) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,704,891 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,760,084 (GRCm39) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,685 (GRCm39) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,141,844 (GRCm39) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,776 (GRCm39) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,244,191 (GRCm39) |
D478G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,211,322 (GRCm39) |
T1074A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,059,298 (GRCm39) |
T239A |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,928,419 (GRCm39) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,318,295 (GRCm39) |
Q444K |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,140,305 (GRCm39) |
I817F |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,082,077 (GRCm39) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,572,442 (GRCm39) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,907 (GRCm39) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,535,617 (GRCm39) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,304,900 (GRCm39) |
I378V |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,889,968 (GRCm39) |
E42G |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,665 (GRCm39) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,228 (GRCm39) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,120 (GRCm39) |
H380R |
probably benign |
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 |
|
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