Incidental Mutation 'IGL02526:Slc12a4'
| ID |
297097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc12a4
|
| Ensembl Gene |
ENSMUSG00000017765 |
| Gene Name |
solute carrier family 12, member 4 |
| Synonyms |
K-Cl Co-transporter-1, KCC1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
IGL02526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106670222-106692729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106676438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 495
(N495D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034370]
[ENSMUST00000116429]
|
| AlphaFold |
Q9JIS8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034370
AA Change: N495D
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: N495D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
117 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
125 |
318 |
5.8e-28 |
PFAM |
|
Pfam:AA_permease
|
409 |
698 |
1.2e-40 |
PFAM |
|
Pfam:SLC12
|
710 |
833 |
7.1e-18 |
PFAM |
|
Pfam:SLC12
|
829 |
1087 |
4.8e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116429
AA Change: N493D
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: N493D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
115 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
123 |
309 |
7.7e-29 |
PFAM |
|
Pfam:AA_permease_2
|
390 |
654 |
2.9e-17 |
PFAM |
|
Pfam:AA_permease
|
404 |
696 |
4.4e-39 |
PFAM |
|
Pfam:KCl_Cotrans_1
|
953 |
982 |
9.2e-21 |
PFAM |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132231
|
| SMART Domains |
Protein: ENSMUSP00000121018
Gene: ENSMUSG00000017765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
86 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
94 |
171 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183884
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a constitutively active mutation display microcytosis and hypochromic anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
| Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
| Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
| Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
| Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
| Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
| Other mutations in Slc12a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01471:Slc12a4
|
APN |
8 |
106,670,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Slc12a4
|
APN |
8 |
106,687,339 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01736:Slc12a4
|
APN |
8 |
106,672,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01804:Slc12a4
|
APN |
8 |
106,671,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Slc12a4
|
APN |
8 |
106,671,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Slc12a4
|
APN |
8 |
106,677,137 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL03385:Slc12a4
|
APN |
8 |
106,677,496 (GRCm39) |
unclassified |
probably benign |
|
|
ablution
|
UTSW |
8 |
106,671,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
custom
|
UTSW |
8 |
106,677,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
Custom2
|
UTSW |
8 |
106,671,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
custom3
|
UTSW |
8 |
106,676,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Slc12a4
|
UTSW |
8 |
106,678,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Slc12a4
|
UTSW |
8 |
106,674,111 (GRCm39) |
splice site |
probably benign |
|
|
R0200:Slc12a4
|
UTSW |
8 |
106,678,249 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0201:Slc12a4
|
UTSW |
8 |
106,671,982 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0270:Slc12a4
|
UTSW |
8 |
106,672,021 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0389:Slc12a4
|
UTSW |
8 |
106,678,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Slc12a4
|
UTSW |
8 |
106,686,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Slc12a4
|
UTSW |
8 |
106,678,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Slc12a4
|
UTSW |
8 |
106,674,203 (GRCm39) |
splice site |
probably null |
|
|
R1792:Slc12a4
|
UTSW |
8 |
106,678,475 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1940:Slc12a4
|
UTSW |
8 |
106,672,669 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3115:Slc12a4
|
UTSW |
8 |
106,686,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Slc12a4
|
UTSW |
8 |
106,671,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Slc12a4
|
UTSW |
8 |
106,671,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5220:Slc12a4
|
UTSW |
8 |
106,680,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Slc12a4
|
UTSW |
8 |
106,677,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5367:Slc12a4
|
UTSW |
8 |
106,678,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Slc12a4
|
UTSW |
8 |
106,676,845 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5921:Slc12a4
|
UTSW |
8 |
106,671,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6060:Slc12a4
|
UTSW |
8 |
106,672,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Slc12a4
|
UTSW |
8 |
106,674,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Slc12a4
|
UTSW |
8 |
106,670,882 (GRCm39) |
splice site |
probably null |
|
|
R6800:Slc12a4
|
UTSW |
8 |
106,676,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Slc12a4
|
UTSW |
8 |
106,680,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Slc12a4
|
UTSW |
8 |
106,675,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Slc12a4
|
UTSW |
8 |
106,671,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Slc12a4
|
UTSW |
8 |
106,673,369 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7243:Slc12a4
|
UTSW |
8 |
106,680,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Slc12a4
|
UTSW |
8 |
106,682,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Slc12a4
|
UTSW |
8 |
106,682,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Slc12a4
|
UTSW |
8 |
106,682,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Slc12a4
|
UTSW |
8 |
106,677,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Slc12a4
|
UTSW |
8 |
106,672,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Slc12a4
|
UTSW |
8 |
106,672,203 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7968:Slc12a4
|
UTSW |
8 |
106,678,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7970:Slc12a4
|
UTSW |
8 |
106,678,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7971:Slc12a4
|
UTSW |
8 |
106,678,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7972:Slc12a4
|
UTSW |
8 |
106,678,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7973:Slc12a4
|
UTSW |
8 |
106,678,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8221:Slc12a4
|
UTSW |
8 |
106,678,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8386:Slc12a4
|
UTSW |
8 |
106,678,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Slc12a4
|
UTSW |
8 |
106,678,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8751:Slc12a4
|
UTSW |
8 |
106,676,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8786:Slc12a4
|
UTSW |
8 |
106,680,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Slc12a4
|
UTSW |
8 |
106,673,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Slc12a4
|
UTSW |
8 |
106,673,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8965:Slc12a4
|
UTSW |
8 |
106,671,982 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9100:Slc12a4
|
UTSW |
8 |
106,675,774 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9113:Slc12a4
|
UTSW |
8 |
106,670,984 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0019:Slc12a4
|
UTSW |
8 |
106,670,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Slc12a4
|
UTSW |
8 |
106,673,364 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2015-04-16 |
Incidental Mutation