Incidental Mutation 'IGL00471:Barhl2'
| ID |
277545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Barhl2
|
| Ensembl Gene |
ENSMUSG00000034384 |
| Gene Name |
BarH like homeobox 2 |
| Synonyms |
MBH1, E130309B19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
106600389-106606032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106603365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 265
(A265T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086795]
|
| AlphaFold |
Q8VIB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086795
AA Change: A265T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084005
Gene: ENSMUSG00000034384
AA Change: A265T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
138 |
N/A |
INTRINSIC |
|
HOX
|
229 |
291 |
4.6e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with slow weight gain, impaired coordination, decreased numbers of retinal ganglion cells and retinal amacrine cells, and abnormal eye electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
| Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Barhl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00332:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00339:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00418:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00421:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00425:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00428:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00432:Barhl2
|
APN |
5 |
106,603,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02548:Barhl2
|
APN |
5 |
106,603,391 (GRCm39) |
missense |
probably benign |
0.22 |
|
BB001:Barhl2
|
UTSW |
5 |
106,605,515 (GRCm39) |
missense |
unknown |
|
|
BB011:Barhl2
|
UTSW |
5 |
106,605,515 (GRCm39) |
missense |
unknown |
|
|
R0310:Barhl2
|
UTSW |
5 |
106,605,253 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1662:Barhl2
|
UTSW |
5 |
106,601,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1749:Barhl2
|
UTSW |
5 |
106,605,572 (GRCm39) |
missense |
unknown |
|
|
R1974:Barhl2
|
UTSW |
5 |
106,605,179 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5184:Barhl2
|
UTSW |
5 |
106,605,506 (GRCm39) |
missense |
unknown |
|
|
R5195:Barhl2
|
UTSW |
5 |
106,601,305 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5604:Barhl2
|
UTSW |
5 |
106,603,412 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6026:Barhl2
|
UTSW |
5 |
106,603,474 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7924:Barhl2
|
UTSW |
5 |
106,605,515 (GRCm39) |
missense |
unknown |
|
|
R8906:Barhl2
|
UTSW |
5 |
106,603,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation