Incidental Mutation 'R7973:Slc12a4'
| ID |
650717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a4
|
| Ensembl Gene |
ENSMUSG00000017765 |
| Gene Name |
solute carrier family 12, member 4 |
| Synonyms |
K-Cl Co-transporter-1, KCC1 |
| MMRRC Submission |
046016-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R7973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106670222-106692729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106678237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 319
(R319W)
|
| 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: R319W
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: R319W
| 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 |
probably damaging
Transcript: ENSMUST00000116429
AA Change: R317W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: R317W
| 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 |
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
A |
G |
5: 115,084,112 (GRCm39) |
D76G |
probably benign |
Het |
| Abcg1 |
T |
C |
17: 31,323,132 (GRCm39) |
V237A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,506 (GRCm39) |
H122Q |
|
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,763,518 (GRCm39) |
R925W |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,480,381 (GRCm39) |
G181D |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,960,164 (GRCm39) |
S2299T |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,538,062 (GRCm39) |
Q432* |
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,483 (GRCm39) |
S10T |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,539 (GRCm39) |
I221V |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,057 (GRCm39) |
Y688C |
probably damaging |
Het |
| Caml |
C |
T |
13: 55,779,784 (GRCm39) |
L286F |
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,806,331 (GRCm39) |
|
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,477 (GRCm39) |
V116E |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,929,011 (GRCm39) |
I305N |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,680,130 (GRCm39) |
G33S |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,181,148 (GRCm39) |
I178L |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,909,377 (GRCm39) |
L1330Q |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fmnl1 |
G |
T |
11: 103,061,984 (GRCm39) |
|
probably benign |
Het |
| Galk1 |
A |
G |
11: 115,903,435 (GRCm39) |
F24L |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,785 (GRCm39) |
M1K |
probably null |
Het |
| Ighe |
T |
C |
12: 113,236,677 (GRCm39) |
T64A |
|
Het |
| Iqch |
A |
G |
9: 63,432,228 (GRCm39) |
I389T |
possibly damaging |
Het |
| Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,230,922 (GRCm39) |
S650P |
probably benign |
Het |
| Mapkapk5 |
T |
G |
5: 121,663,776 (GRCm39) |
N426T |
possibly damaging |
Het |
| Mroh5 |
G |
T |
15: 73,664,614 (GRCm39) |
Y90* |
probably null |
Het |
| Ncan |
T |
G |
8: 70,550,225 (GRCm39) |
I1184L |
probably benign |
Het |
| Nectin3 |
T |
C |
16: 46,216,484 (GRCm39) |
T439A |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,897,476 (GRCm39) |
A160E |
probably damaging |
Het |
| Nosip |
T |
C |
7: 44,726,784 (GRCm39) |
S295P |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,222,274 (GRCm39) |
F1979L |
probably benign |
Het |
| Nxpe2 |
A |
T |
9: 48,231,168 (GRCm39) |
D400E |
probably damaging |
Het |
| Or4a73 |
T |
A |
2: 89,421,331 (GRCm39) |
I43F |
probably damaging |
Het |
| Pfkfb4 |
G |
A |
9: 108,854,179 (GRCm39) |
R351Q |
probably damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,462 (GRCm39) |
I324T |
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,583,887 (GRCm39) |
T235N |
possibly damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,230,481 (GRCm39) |
N981I |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,036,651 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sgk1 |
G |
T |
10: 21,870,054 (GRCm39) |
S31I |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,857,419 (GRCm39) |
Y390D |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,112,779 (GRCm39) |
Y271* |
probably null |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,590 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
A |
T |
10: 62,285,202 (GRCm39) |
L88Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,668,570 (GRCm39) |
|
probably null |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,913,634 (GRCm39) |
I899T |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,413,762 (GRCm39) |
R96M |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,961 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,872 (GRCm39) |
E249G |
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,531 (GRCm39) |
G337R |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,441,882 (GRCm39) |
H231L |
probably benign |
Het |
| Zfp715 |
C |
T |
7: 42,949,321 (GRCm39) |
G213D |
possibly damaging |
Het |
| Zfp760 |
T |
G |
17: 21,941,084 (GRCm39) |
H86Q |
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 |
|
IGL02526:Slc12a4
|
APN |
8 |
106,676,438 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAAGGACAGCTCTGTAC -3'
(R):5'- ACTAGGGCATTTGTTCCAGC -3'
Sequencing Primer
(F):5'- TGGGGCTTTCAGGACACAG -3'
(R):5'- CTAGGGCATTTGTTCCAGCCATTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation