Incidental Mutation 'R6497:Bicral'
ID |
523085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bicral
|
Ensembl Gene |
ENSMUSG00000036568 |
Gene Name |
BRD4 interacting chromatin remodeling complex associated protein like |
Synonyms |
BC032203, Gltscr1l |
MMRRC Submission |
044629-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6497 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
47109046-47169408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47136499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 237
(I237K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040624]
|
AlphaFold |
Q8CHH5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040624
AA Change: I237K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044833 Gene: ENSMUSG00000036568 AA Change: I237K
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
probably damaging |
Het |
|
Other mutations in Bicral |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Bicral
|
APN |
17 |
47,136,278 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCACGGGTAAAGATGCCTG -3'
(R):5'- AGGTCAGACACTGCAGCCTATC -3'
Sequencing Primer
(F):5'- AAGATGCCTGGAAATTTGTGC -3'
(R):5'- CATCGTTTGCAAGCAATACAGTGG -3'
|
Posted On |
2018-06-06 |