Incidental Mutation 'IGL00547:Bicral'
| ID |
5755 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bicral
|
| Ensembl Gene |
ENSMUSG00000036568 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein like |
| Synonyms |
BC032203, Gltscr1l |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47109046-47169408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47136278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 311
(I311V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040624]
|
| AlphaFold |
Q8CHH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040624
AA Change: I311V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044833
Gene: ENSMUSG00000036568
AA Change: I311V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
616 |
N/A |
INTRINSIC |
|
Pfam:GLTSCR1
|
701 |
808 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal embryo turning, embryonic growth retardation, cardiac hypertrophy, and complete embryonic lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,076,302 (GRCm39) |
Q1345K |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,380,546 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,200,817 (GRCm39) |
C784R |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,346,570 (GRCm39) |
R551H |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,732,426 (GRCm39) |
M842L |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,627,361 (GRCm39) |
N65D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,034,677 (GRCm39) |
Q4199* |
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,397,598 (GRCm39) |
|
probably benign |
Het |
| Gm454 |
T |
C |
5: 138,205,389 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7073 |
A |
T |
X: 59,481,748 (GRCm39) |
D204E |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,048,735 (GRCm39) |
H286R |
probably benign |
Het |
| Nelfb |
C |
A |
2: 25,094,300 (GRCm39) |
M354I |
possibly damaging |
Het |
| Oas3 |
C |
T |
5: 120,915,507 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,898 (GRCm39) |
S228P |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,837,874 (GRCm39) |
I429N |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,554,402 (GRCm39) |
V108M |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,027,883 (GRCm39) |
S138P |
possibly damaging |
Het |
| Rpn2 |
T |
C |
2: 157,156,833 (GRCm39) |
Y479H |
probably damaging |
Het |
| Sdr16c5 |
A |
T |
4: 4,012,320 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,015,674 (GRCm39) |
N372K |
probably benign |
Het |
| Stag2 |
T |
C |
X: 41,335,892 (GRCm39) |
I563T |
probably benign |
Het |
| Vrk1 |
T |
C |
12: 106,024,840 (GRCm39) |
S239P |
probably damaging |
Het |
|
| Other mutations in Bicral |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Bicral
|
APN |
17 |
47,136,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01899:Bicral
|
APN |
17 |
47,135,600 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02321:Bicral
|
APN |
17 |
47,122,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02425:Bicral
|
APN |
17 |
47,119,380 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0091:Bicral
|
UTSW |
17 |
47,136,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Bicral
|
UTSW |
17 |
47,124,978 (GRCm39) |
splice site |
probably benign |
|
|
R0344:Bicral
|
UTSW |
17 |
47,124,978 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Bicral
|
UTSW |
17 |
47,136,327 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0589:Bicral
|
UTSW |
17 |
47,112,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1442:Bicral
|
UTSW |
17 |
47,112,650 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1468:Bicral
|
UTSW |
17 |
47,135,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Bicral
|
UTSW |
17 |
47,135,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1874:Bicral
|
UTSW |
17 |
47,136,104 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2057:Bicral
|
UTSW |
17 |
47,135,814 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2120:Bicral
|
UTSW |
17 |
47,135,741 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2190:Bicral
|
UTSW |
17 |
47,136,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3737:Bicral
|
UTSW |
17 |
47,136,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Bicral
|
UTSW |
17 |
47,135,751 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3977:Bicral
|
UTSW |
17 |
47,141,917 (GRCm39) |
start codon destroyed |
unknown |
|
|
R3979:Bicral
|
UTSW |
17 |
47,141,917 (GRCm39) |
start codon destroyed |
unknown |
|
|
R4183:Bicral
|
UTSW |
17 |
47,124,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Bicral
|
UTSW |
17 |
47,136,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Bicral
|
UTSW |
17 |
47,112,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5310:Bicral
|
UTSW |
17 |
47,124,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5493:Bicral
|
UTSW |
17 |
47,112,620 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5610:Bicral
|
UTSW |
17 |
47,119,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5656:Bicral
|
UTSW |
17 |
47,119,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5771:Bicral
|
UTSW |
17 |
47,136,284 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5891:Bicral
|
UTSW |
17 |
47,112,155 (GRCm39) |
missense |
probably benign |
|
|
R6426:Bicral
|
UTSW |
17 |
47,141,005 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6497:Bicral
|
UTSW |
17 |
47,136,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Bicral
|
UTSW |
17 |
47,112,594 (GRCm39) |
missense |
probably benign |
|
|
R7037:Bicral
|
UTSW |
17 |
47,135,560 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7440:Bicral
|
UTSW |
17 |
47,136,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:Bicral
|
UTSW |
17 |
47,112,534 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8680:Bicral
|
UTSW |
17 |
47,141,873 (GRCm39) |
splice site |
probably benign |
|
|
R8802:Bicral
|
UTSW |
17 |
47,135,626 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9366:Bicral
|
UTSW |
17 |
47,117,558 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9683:Bicral
|
UTSW |
17 |
47,122,944 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
V3553:Bicral
|
UTSW |
17 |
47,141,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Bicral
|
UTSW |
17 |
47,136,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation