Incidental Mutation 'R5760:Slc12a7'
ID |
445259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a7
|
Ensembl Gene |
ENSMUSG00000017756 |
Gene Name |
solute carrier family 12, member 7 |
Synonyms |
Kcc4 |
MMRRC Submission |
043362-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5760 (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 73961741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1037
(V1037D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000022051]
|
AlphaFold |
Q9WVL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017900
AA Change: V1037D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017900 Gene: ENSMUSG00000017756 AA Change: V1037D
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 |
probably benign
Transcript: ENSMUST00000022051
|
SMART Domains |
Protein: ENSMUSP00000022051 Gene: ENSMUSG00000021567
Domain | Start | End | E-Value | Type |
SCOP:d1alva_
|
133 |
160 |
7e-3 |
SMART |
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
low complexity region
|
380 |
390 |
N/A |
INTRINSIC |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222309
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223454
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.3%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
T |
C |
15: 37,439,835 (GRCm39) |
|
probably benign |
Het |
Abl2 |
C |
T |
1: 156,469,427 (GRCm39) |
T793M |
probably benign |
Het |
Accs |
A |
C |
2: 93,676,105 (GRCm39) |
L90R |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,926 (GRCm39) |
D4070V |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,520,100 (GRCm39) |
V475A |
probably benign |
Het |
Atp10d |
T |
A |
5: 72,418,280 (GRCm39) |
V602E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,242,171 (GRCm39) |
V1088M |
probably damaging |
Het |
Dennd6a |
A |
T |
14: 26,333,195 (GRCm39) |
I144L |
probably damaging |
Het |
Dnajc6 |
G |
A |
4: 101,475,839 (GRCm39) |
A571T |
probably benign |
Het |
Drap1 |
A |
G |
19: 5,474,391 (GRCm39) |
I18T |
probably damaging |
Het |
En2 |
C |
A |
5: 28,371,997 (GRCm39) |
A158D |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,203,167 (GRCm39) |
G1219R |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm7535 |
C |
T |
17: 18,132,080 (GRCm39) |
|
probably benign |
Het |
Hao2 |
A |
T |
3: 98,787,748 (GRCm39) |
L227* |
probably null |
Het |
Hdlbp |
C |
T |
1: 93,368,499 (GRCm39) |
|
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,952,208 (GRCm39) |
K175E |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,304,580 (GRCm39) |
A3075T |
possibly damaging |
Het |
Igkv6-15 |
A |
T |
6: 70,383,516 (GRCm39) |
I95N |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,802,537 (GRCm39) |
Q1001L |
probably benign |
Het |
Jaml |
T |
A |
9: 45,009,052 (GRCm39) |
M151K |
probably benign |
Het |
Lix1 |
T |
A |
17: 17,647,499 (GRCm39) |
V55D |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,407,677 (GRCm39) |
S179P |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
Mroh5 |
A |
C |
15: 73,693,356 (GRCm39) |
I28S |
probably damaging |
Het |
Naip5 |
T |
G |
13: 100,379,346 (GRCm39) |
K231N |
probably damaging |
Het |
Neb |
A |
C |
2: 52,073,830 (GRCm39) |
Y5683D |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,179,031 (GRCm39) |
H126Q |
probably benign |
Het |
Npm2 |
A |
G |
14: 70,886,935 (GRCm39) |
F110L |
probably damaging |
Het |
Nsd3 |
A |
T |
8: 26,149,772 (GRCm39) |
H319L |
probably damaging |
Het |
Nup205 |
G |
A |
6: 35,224,278 (GRCm39) |
R2039Q |
probably damaging |
Het |
Or10j7 |
C |
A |
1: 173,011,318 (GRCm39) |
A228S |
probably benign |
Het |
Or6b2b |
A |
G |
1: 92,418,922 (GRCm39) |
L185P |
possibly damaging |
Het |
Or7d10 |
A |
C |
9: 19,832,050 (GRCm39) |
T182P |
probably benign |
Het |
Pcdhac2 |
G |
A |
18: 37,279,453 (GRCm39) |
G811E |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,143,778 (GRCm39) |
R3849S |
probably benign |
Het |
Pmfbp1 |
A |
T |
8: 110,247,655 (GRCm39) |
D317V |
probably damaging |
Het |
Sall1 |
T |
C |
8: 89,755,278 (GRCm39) |
N1234D |
possibly damaging |
Het |
Slc12a8 |
G |
T |
16: 33,445,155 (GRCm39) |
E404* |
probably null |
Het |
Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,151,996 (GRCm39) |
V152A |
probably damaging |
Het |
Tshz3 |
C |
A |
7: 36,470,994 (GRCm39) |
H994Q |
probably damaging |
Het |
Ubash3b |
T |
G |
9: 40,988,719 (GRCm39) |
K62T |
probably benign |
Het |
Ushbp1 |
G |
T |
8: 71,840,012 (GRCm39) |
D546E |
probably damaging |
Het |
Zfp458 |
A |
C |
13: 67,405,853 (GRCm39) |
C192W |
probably damaging |
Het |
Zfp808 |
A |
T |
13: 62,319,740 (GRCm39) |
H323L |
probably 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 |
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 |
|
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'- CATCCTAATATGCTAAGCCTTGCC -3'
(R):5'- TGGACCCCTCATTGTACCAC -3'
Sequencing Primer
(F):5'- CCTTCCCATGAACAAGCTGGG -3'
(R):5'- ATTGTACCACACATCACTGCCTG -3'
|
Posted On |
2016-11-21 |