Incidental Mutation 'IGL00326:Barhl2'
ID |
332262 |
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 # |
IGL00326
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
Other mutations in Barhl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL00471: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 |
2015-08-05 |