Incidental Mutation 'R1327:Bsnd'
| ID |
157239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bsnd
|
| Ensembl Gene |
ENSMUSG00000025418 |
| Gene Name |
barttin CLCNK type accessory beta subunit |
| Synonyms |
Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
| MMRRC Submission |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106340653-106349440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106343809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 166
(E166K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054472]
|
| AlphaFold |
Q8VIM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054472
AA Change: E166K
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: E166K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Barttin
|
27 |
241 |
5.2e-110 |
PFAM |
|
low complexity region
|
273 |
280 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0798 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bsnd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03220:Bsnd
|
APN |
4 |
106,343,962 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02802:Bsnd
|
UTSW |
4 |
106,349,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Bsnd
|
UTSW |
4 |
106,343,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1912:Bsnd
|
UTSW |
4 |
106,345,227 (GRCm39) |
nonsense |
probably null |
|
|
R4294:Bsnd
|
UTSW |
4 |
106,342,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4411:Bsnd
|
UTSW |
4 |
106,343,868 (GRCm39) |
missense |
probably benign |
|
|
R5241:Bsnd
|
UTSW |
4 |
106,345,182 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5733:Bsnd
|
UTSW |
4 |
106,345,198 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6274:Bsnd
|
UTSW |
4 |
106,343,832 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6483:Bsnd
|
UTSW |
4 |
106,345,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7153:Bsnd
|
UTSW |
4 |
106,349,230 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7184:Bsnd
|
UTSW |
4 |
106,349,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Bsnd
|
UTSW |
4 |
106,342,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCGTGAGAGAAACTGCTTG -3'
(R):5'- TATGACCAGAGCCTCCCAGACTTC -3'
Sequencing Primer
(F):5'- CTGCTTGGGAGAGTCTAAAACC -3'
(R):5'- TTCACTCACATCCAAATGAAGGTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation