Incidental Mutation 'R9292:Slc12a7'
| ID |
704349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a7
|
| Ensembl Gene |
ENSMUSG00000017756 |
| Gene Name |
solute carrier family 12, member 7 |
| Synonyms |
Kcc4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73932707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 65
(E65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000220535]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017900
AA Change: E65G
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: E65G
| 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: ENSMUST00000220535
|
| Meta Mutation Damage Score |
0.0711 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Abcb1b |
C |
T |
5: 8,862,843 (GRCm39) |
T175I |
probably benign |
Het |
| Acat3 |
T |
C |
17: 13,146,255 (GRCm39) |
T243A |
probably benign |
Het |
| Aebp1 |
C |
A |
11: 5,815,260 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,568,867 (GRCm39) |
F723L |
probably damaging |
Het |
| Atp13a4 |
T |
A |
16: 29,241,500 (GRCm39) |
I723F |
|
Het |
| Bop1 |
T |
C |
15: 76,351,031 (GRCm39) |
T97A |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,114 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,832,688 (GRCm39) |
E1538K |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,585,805 (GRCm39) |
V1218E |
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,110,868 (GRCm39) |
M212K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,403,120 (GRCm39) |
T3141A |
probably damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,176,916 (GRCm39) |
T624A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,995 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,775 (GRCm39) |
V892E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,921,382 (GRCm39) |
R1370G |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,784,429 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,498,799 (GRCm39) |
I225N |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,049 (GRCm39) |
V422L |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,191,221 (GRCm39) |
H54L |
probably benign |
Het |
| Gabbr1 |
T |
G |
17: 37,366,784 (GRCm39) |
I336S |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,692,037 (GRCm39) |
F194S |
probably damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,534,964 (GRCm39) |
Q189* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,563 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,452,047 (GRCm39) |
E247G |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,486,558 (GRCm39) |
R238G |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,583,436 (GRCm39) |
S412Y |
probably damaging |
Het |
| Nup210 |
A |
C |
6: 91,051,235 (GRCm39) |
S383A |
possibly damaging |
Het |
| Or10j3 |
C |
T |
1: 173,031,099 (GRCm39) |
P59S |
probably damaging |
Het |
| Or11g2 |
T |
C |
14: 50,856,513 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,071 (GRCm39) |
N206Y |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,218 (GRCm39) |
Y198N |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,713 (GRCm39) |
I421L |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,536,751 (GRCm39) |
I149T |
probably benign |
Het |
| Peli3 |
G |
A |
19: 4,988,117 (GRCm39) |
P81L |
possibly damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,234,883 (GRCm39) |
S30P |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,942,042 (GRCm39) |
L263Q |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,238,879 (GRCm39) |
M190V |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,285,963 (GRCm39) |
E186G |
probably benign |
Het |
| Ralyl |
T |
A |
3: 14,172,312 (GRCm39) |
D60E |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,406,006 (GRCm39) |
Y97H |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,560 (GRCm39) |
V457E |
unknown |
Het |
| Sh2d4b |
C |
G |
14: 40,537,914 (GRCm39) |
E403Q |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,075 (GRCm39) |
V905A |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,005,832 (GRCm39) |
F198S |
probably benign |
Het |
| St18 |
C |
A |
1: 6,898,106 (GRCm39) |
T636K |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,299,712 (GRCm39) |
D874E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,671,574 (GRCm39) |
T502A |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,278,787 (GRCm39) |
I457V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,997,823 (GRCm39) |
C2266F |
probably benign |
Het |
| Tcirg1 |
T |
C |
19: 3,947,840 (GRCm39) |
N532D |
probably damaging |
Het |
| Tfdp1 |
T |
A |
8: 13,420,580 (GRCm39) |
N136K |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,926,173 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,979 (GRCm39) |
I190V |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,046,177 (GRCm39) |
V1208M |
probably damaging |
Het |
| Tulp1 |
T |
A |
17: 28,582,738 (GRCm39) |
K137* |
probably null |
Het |
| Zfp534 |
A |
T |
4: 147,759,095 (GRCm39) |
C525S |
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 |
|
|
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 |
|
|
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'- TAGAATACAGGGTCCCGGAC -3'
(R):5'- ACTGTAAGGAATGCACCAGCC -3'
Sequencing Primer
(F):5'- GGACCTACTGATTTGGCCAC -3'
(R):5'- TAAACTCAGTGGATCTCAGGCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation