Incidental Mutation 'IGL00428:Barhl2'
| ID |
277591 |
| 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 # |
IGL00428
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
A |
10: 14,343,119 (GRCm39) |
P276L |
probably benign |
Het |
| Asap1 |
G |
A |
15: 63,991,803 (GRCm39) |
|
probably benign |
Het |
| Axl |
T |
C |
7: 25,460,297 (GRCm39) |
T723A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,876 (GRCm39) |
N3491S |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,085,535 (GRCm39) |
K503E |
probably benign |
Het |
| Cbln4 |
A |
G |
2: 171,880,970 (GRCm39) |
V108A |
probably benign |
Het |
| Ccdc71 |
C |
T |
9: 108,341,354 (GRCm39) |
T389M |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,452 (GRCm39) |
T393A |
unknown |
Het |
| Cdh20 |
A |
T |
1: 104,881,612 (GRCm39) |
H359L |
probably benign |
Het |
| Cfap119 |
A |
T |
7: 127,184,210 (GRCm39) |
S229T |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,452,500 (GRCm39) |
V364M |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,185,528 (GRCm39) |
N204K |
probably damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,512,309 (GRCm39) |
R238C |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,062 (GRCm39) |
V39I |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,478 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,455,114 (GRCm39) |
Y583C |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,402,909 (GRCm39) |
F514S |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,833,750 (GRCm39) |
C484S |
probably benign |
Het |
| Masp1 |
A |
G |
16: 23,295,062 (GRCm39) |
Y400H |
probably damaging |
Het |
| Olfml3 |
G |
A |
3: 103,644,298 (GRCm39) |
|
probably null |
Het |
| Pard3b |
T |
C |
1: 62,200,357 (GRCm39) |
S299P |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,623 (GRCm39) |
E194D |
possibly damaging |
Het |
| Pip5k1c |
A |
T |
10: 81,141,545 (GRCm39) |
T78S |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,304,877 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,422,823 (GRCm39) |
N11D |
probably benign |
Het |
| Slc10a6 |
G |
A |
5: 103,760,362 (GRCm39) |
T211I |
probably benign |
Het |
| Smim8 |
T |
C |
4: 34,769,006 (GRCm39) |
T93A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,645,273 (GRCm39) |
I774M |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,189,351 (GRCm39) |
T58A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,424 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,177 (GRCm39) |
D210G |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
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 |
|
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 |
2015-04-16 |
Incidental Mutation