Incidental Mutation 'R9521:Slc12a7'
| ID |
718904 |
| 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 # |
R9521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73881213-73964873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73947087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 592
(V592I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
|
| AlphaFold |
Q9WVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
AA Change: V592I
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V592I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,608,778 (GRCm39) |
|
probably null |
Het |
| A030005K14Rik |
C |
A |
1: 83,036,980 (GRCm39) |
G17V |
unknown |
Het |
| Afap1l1 |
C |
T |
18: 61,879,863 (GRCm39) |
A336T |
probably benign |
Het |
| Akap8 |
C |
T |
17: 32,530,036 (GRCm39) |
R395H |
possibly damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,517,420 (GRCm39) |
A467V |
possibly damaging |
Het |
| Ano9 |
A |
T |
7: 140,682,227 (GRCm39) |
S683T |
probably benign |
Het |
| Aox3 |
C |
A |
1: 58,164,222 (GRCm39) |
A164E |
probably benign |
Het |
| Apc |
T |
C |
18: 34,445,738 (GRCm39) |
I878T |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atg9b |
T |
C |
5: 24,593,107 (GRCm39) |
N432S |
probably benign |
Het |
| Atp1b3 |
A |
G |
9: 96,227,911 (GRCm39) |
F49L |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,609,138 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,916,283 (GRCm39) |
L828Q |
probably null |
Het |
| Chd3 |
C |
T |
11: 69,249,133 (GRCm39) |
R748Q |
probably benign |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,581,028 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
T |
5: 113,752,480 (GRCm39) |
V174I |
probably benign |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,688 (GRCm39) |
V362D |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,501,763 (GRCm39) |
K1810R |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,159,216 (GRCm39) |
V661E |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,125,899 (GRCm39) |
R518Q |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,841,471 (GRCm39) |
L1591P |
probably damaging |
Het |
| Fam186b |
G |
T |
15: 99,178,419 (GRCm39) |
D302E |
probably benign |
Het |
| Fap |
T |
C |
2: 62,372,500 (GRCm39) |
D326G |
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,655,892 (GRCm39) |
D135E |
|
Het |
| Keap1 |
A |
T |
9: 21,143,136 (GRCm39) |
V463E |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,979 (GRCm39) |
S2888P |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,722,118 (GRCm39) |
D403G |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,233,171 (GRCm39) |
T773I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,835,845 (GRCm39) |
D79G |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
| Or8k35 |
C |
A |
2: 86,424,771 (GRCm39) |
V134F |
|
Het |
| Orc6 |
T |
C |
8: 86,026,615 (GRCm39) |
V20A |
possibly damaging |
Het |
| Peli2 |
A |
G |
14: 48,490,052 (GRCm39) |
K175E |
probably benign |
Het |
| Plec |
C |
G |
15: 76,062,924 (GRCm39) |
R2382P |
possibly damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,705,063 (GRCm39) |
D875V |
probably damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,629 (GRCm39) |
C320* |
probably null |
Het |
| Qrich2 |
A |
T |
11: 116,339,208 (GRCm39) |
M26K |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,624,291 (GRCm39) |
I1006V |
probably benign |
Het |
| Rasgrp3 |
T |
A |
17: 75,821,158 (GRCm39) |
L455Q |
probably null |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 79,974,687 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,992,144 (GRCm39) |
Y700C |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,915,246 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,877,906 (GRCm39) |
V396A |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,388 (GRCm39) |
T236A |
probably benign |
Het |
| Tob1 |
AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC |
AGCAGCAGCAGCAGCAGCAGCC |
11: 94,105,205 (GRCm39) |
|
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,787,181 (GRCm39) |
D729E |
probably damaging |
Het |
| Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,808,586 (GRCm39) |
D224G |
probably benign |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,626 (GRCm39) |
E413G |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,509,033 (GRCm39) |
L437Q |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,227 (GRCm39) |
V227A |
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 |
|
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 |
|
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'- TGCGACTTATTCTTAGGGTCC -3'
(R):5'- TGGCCTCCTAGACTTCACTG -3'
Sequencing Primer
(F):5'- CCTCAGCTGCTGTGTAGAGAC -3'
(R):5'- TGGGTCTCCTTCCACCAAAACAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation