Incidental Mutation 'R0828:Slc12a7'
| ID |
78400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| MMRRC Submission |
039008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73936771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 144
(I144V)
|
| 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: I144V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: I144V
| 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
|
| Meta Mutation Damage Score |
0.1036 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
C |
T |
11: 25,602,020 (GRCm39) |
C70Y |
unknown |
Het |
| Abi3bp |
C |
T |
16: 56,498,193 (GRCm39) |
T929I |
probably damaging |
Het |
| Adap2 |
C |
A |
11: 80,056,490 (GRCm39) |
|
probably benign |
Het |
| Adgrg5 |
A |
G |
8: 95,668,413 (GRCm39) |
|
probably null |
Het |
| Afdn |
C |
A |
17: 14,124,260 (GRCm39) |
N1803K |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,057,132 (GRCm39) |
L451P |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,510,434 (GRCm39) |
|
probably benign |
Het |
| Bcr |
A |
T |
10: 74,993,039 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,734,347 (GRCm39) |
N300D |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,829,097 (GRCm39) |
Q876K |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,837 (GRCm39) |
D356G |
possibly damaging |
Het |
| Cdipt |
T |
A |
7: 126,576,092 (GRCm39) |
Y16N |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,233,411 (GRCm39) |
E772G |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,828,992 (GRCm39) |
I304T |
probably benign |
Het |
| Chpt1 |
C |
A |
10: 88,312,277 (GRCm39) |
G9V |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,739,263 (GRCm39) |
|
probably null |
Het |
| Dock7 |
G |
T |
4: 98,903,982 (GRCm39) |
P688T |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,037,784 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
T |
C |
1: 170,788,599 (GRCm39) |
Y336C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,639 (GRCm39) |
H889L |
unknown |
Het |
| Gucy2c |
C |
T |
6: 136,686,746 (GRCm39) |
V806M |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,304,426 (GRCm39) |
I55F |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,230,901 (GRCm39) |
Y301* |
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,333,691 (GRCm39) |
R196H |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,677 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,515,943 (GRCm39) |
V283A |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,135 (GRCm39) |
L423P |
probably damaging |
Het |
| Krt6a |
T |
C |
15: 101,602,271 (GRCm39) |
N138S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,515,677 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,852,100 (GRCm39) |
T828A |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,382,639 (GRCm39) |
M434K |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,500,971 (GRCm39) |
Q743* |
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,884 (GRCm39) |
N14S |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,557,073 (GRCm39) |
S808G |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,953 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
G |
19: 56,333,990 (GRCm39) |
Y874H |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,171,501 (GRCm39) |
F455L |
probably benign |
Het |
| Or2t1 |
G |
T |
14: 14,328,800 (GRCm38) |
V230L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,613,466 (GRCm39) |
V894A |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,990 (GRCm39) |
S173P |
probably damaging |
Het |
| Pphln1-ps1 |
A |
G |
16: 13,495,669 (GRCm39) |
Y256C |
probably damaging |
Het |
| Prep |
C |
T |
10: 45,031,621 (GRCm39) |
A564V |
probably benign |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,922 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
G |
C |
4: 132,063,136 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,584,073 (GRCm39) |
D1514V |
probably benign |
Het |
| Setdb1 |
G |
A |
3: 95,246,171 (GRCm39) |
P584S |
probably damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,458,665 (GRCm39) |
M295V |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,867,565 (GRCm39) |
D456V |
possibly damaging |
Het |
| Sspo |
G |
T |
6: 48,475,668 (GRCm39) |
C4928F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,823 (GRCm39) |
K163N |
probably benign |
Het |
| Tcp11l1 |
A |
T |
2: 104,530,181 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,958,825 (GRCm39) |
I1715F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,108 (GRCm39) |
V1008M |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,312 (GRCm39) |
E587G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,177,864 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp8 |
G |
A |
2: 126,584,034 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,237,612 (GRCm39) |
A464S |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,084 (GRCm39) |
I108V |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCAAACCAAAGCATGGGGTAG -3'
(R):5'- AGGTGGAGTCTCATCATAGCCCAG -3'
Sequencing Primer
(F):5'- GTAGGGTTCCAGACTGAGTTAC -3'
(R):5'- ACTAGTAGGAAACCTGGCCTTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation