Incidental Mutation 'R6728:Barhl1'
| ID |
529935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Barhl1
|
| Ensembl Gene |
ENSMUSG00000026805 |
| Gene Name |
BarH like homeobox 1 |
| Synonyms |
MBH2, Dres115 |
| MMRRC Submission |
044846-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R6728 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28797691-28806680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28805495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 66
(P66L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050776]
[ENSMUST00000113847]
[ENSMUST00000113849]
|
| AlphaFold |
P63157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050776
AA Change: P66L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: P66L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113847
AA Change: P66L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: P66L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113849
AA Change: P66L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: P66L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124059
|
| SMART Domains |
Protein: ENSMUSP00000134363
Gene: ENSMUSG00000026805
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174027
|
| SMART Domains |
Protein: ENSMUSP00000134118
Gene: ENSMUSG00000026805
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
1 |
32 |
2.5e-3 |
SMART |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,977,535 (GRCm39) |
V356E |
possibly damaging |
Het |
| Agmat |
G |
T |
4: 141,476,897 (GRCm39) |
C101F |
probably benign |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,779 (GRCm39) |
S596P |
possibly damaging |
Het |
| Atl1 |
T |
C |
12: 69,994,324 (GRCm39) |
V276A |
possibly damaging |
Het |
| Camk4 |
A |
T |
18: 33,317,992 (GRCm39) |
E383V |
probably benign |
Het |
| Cap2 |
G |
A |
13: 46,793,335 (GRCm39) |
E234K |
possibly damaging |
Het |
| Col24a1 |
A |
T |
3: 145,020,957 (GRCm39) |
M443L |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,657,673 (GRCm39) |
V293A |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,664 (GRCm39) |
S1162P |
probably benign |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kin |
G |
A |
2: 10,094,959 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Ninl |
G |
T |
2: 150,817,777 (GRCm39) |
S129* |
probably null |
Het |
| Or11h4 |
T |
C |
14: 50,974,296 (GRCm39) |
T108A |
possibly damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,018 (GRCm39) |
D231E |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Platr25 |
G |
A |
13: 62,848,197 (GRCm39) |
H222Y |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,554,171 (GRCm39) |
S94Y |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,011,737 (GRCm39) |
Y722H |
probably benign |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Thsd4 |
T |
C |
9: 59,904,480 (GRCm39) |
D572G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,802,727 (GRCm39) |
L1510H |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,840,098 (GRCm39) |
S433P |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,639,057 (GRCm39) |
V401A |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,196,453 (GRCm39) |
M27V |
probably damaging |
Het |
|
| Other mutations in Barhl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Barhl1
|
APN |
2 |
28,805,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02337:Barhl1
|
APN |
2 |
28,801,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Barhl1
|
APN |
2 |
28,805,468 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0449:Barhl1
|
UTSW |
2 |
28,805,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1675:Barhl1
|
UTSW |
2 |
28,805,423 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1829:Barhl1
|
UTSW |
2 |
28,799,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Barhl1
|
UTSW |
2 |
28,801,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3616:Barhl1
|
UTSW |
2 |
28,801,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4937:Barhl1
|
UTSW |
2 |
28,799,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Barhl1
|
UTSW |
2 |
28,805,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6075:Barhl1
|
UTSW |
2 |
28,805,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6727:Barhl1
|
UTSW |
2 |
28,805,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7096:Barhl1
|
UTSW |
2 |
28,799,726 (GRCm39) |
missense |
probably benign |
|
|
R7123:Barhl1
|
UTSW |
2 |
28,799,943 (GRCm39) |
splice site |
probably null |
|
|
R7336:Barhl1
|
UTSW |
2 |
28,799,855 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7339:Barhl1
|
UTSW |
2 |
28,799,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Barhl1
|
UTSW |
2 |
28,799,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9070:Barhl1
|
UTSW |
2 |
28,805,423 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9087:Barhl1
|
UTSW |
2 |
28,805,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Barhl1
|
UTSW |
2 |
28,805,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTGTCTCGAAAGTCCTC -3'
(R):5'- GGCTTTGGGATTGACTCCATTC -3'
Sequencing Primer
(F):5'- TCTCGAAAGTCCTCCCCGG -3'
(R):5'- ATTCTCTCCCACCGAGCGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation