Incidental Mutation 'R1659:Slc12a7'
ID |
186616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a7
|
Ensembl Gene |
ENSMUSG00000017756 |
Gene Name |
solute carrier family 12, member 7 |
Synonyms |
Kcc4 |
MMRRC Submission |
039695-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1659 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73938790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 189
(I189N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
AlphaFold |
Q9WVL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017900
AA Change: I189N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000017900 Gene: ENSMUSG00000017756 AA Change: I189N
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
Brd7 |
G |
T |
8: 89,060,420 (GRCm39) |
P568T |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,885,027 (GRCm39) |
L538P |
probably benign |
Het |
Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,005,574 (GRCm39) |
D938G |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
Rhpn2 |
A |
G |
7: 35,076,466 (GRCm39) |
Y339C |
probably damaging |
Het |
Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
Vwa7 |
T |
C |
17: 35,238,047 (GRCm39) |
L216P |
probably benign |
Het |
Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
possibly 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 |
|
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 |
|
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 |
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'- TGTATCAGGCAGTTCTCATCACGC -3'
(R):5'- ACATGCCTCCTGAGATAGCACAGAC -3'
Sequencing Primer
(F):5'- TACCAGTAGGCAGGCTAGACC -3'
(R):5'- TCAGCCTAGACAGGAGCTTTG -3'
|
Posted On |
2014-05-09 |