Incidental Mutation 'R3737:Bicral'
| ID |
270203 |
| 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 |
040724-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3737 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47109046-47169408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47136836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 125
(Y125N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040624]
|
| AlphaFold |
Q8CHH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040624
AA Change: Y125N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044833
Gene: ENSMUSG00000036568
AA Change: Y125N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
| Brd2 |
A |
G |
17: 34,336,054 (GRCm39) |
L53S |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,436,482 (GRCm39) |
V867A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,411,523 (GRCm39) |
D1531V |
possibly damaging |
Het |
| Dnah9 |
G |
A |
11: 66,047,734 (GRCm39) |
Q29* |
probably null |
Het |
| Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,938 (GRCm39) |
Y118C |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,937,050 (GRCm39) |
I332V |
possibly damaging |
Het |
| Gprc6a |
A |
C |
10: 51,503,007 (GRCm39) |
N285K |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
| Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Il36rn |
T |
C |
2: 24,171,215 (GRCm39) |
F101S |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,849,280 (GRCm39) |
L1340P |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
| Nolc1 |
C |
CAGT |
19: 46,069,816 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,792 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
GCA |
GCAACA |
19: 46,069,809 (GRCm39) |
|
probably benign |
Het |
| Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
| Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,714,080 (GRCm39) |
Y215* |
probably null |
Het |
| Pde6c |
T |
A |
19: 38,128,672 (GRCm39) |
V212D |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
| Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
| R3hcc1 |
C |
T |
14: 69,935,042 (GRCm39) |
R262Q |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
| Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Tprg1l |
T |
C |
4: 154,244,585 (GRCm39) |
I137V |
probably benign |
Het |
| Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,801,578 (GRCm39) |
|
probably null |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Usp49 |
G |
A |
17: 47,983,243 (GRCm39) |
V83M |
probably damaging |
Het |
| Usp6nl |
C |
A |
2: 6,445,728 (GRCm39) |
N568K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Vmn1r55 |
T |
G |
7: 5,150,195 (GRCm39) |
D76A |
probably damaging |
Het |
| Xrcc6 |
T |
C |
15: 81,913,832 (GRCm39) |
Y53H |
probably damaging |
Het |
| Zbtb7c |
T |
G |
18: 76,270,011 (GRCm39) |
L33R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCACGTGTTGCATAAAG -3'
(R):5'- CTCAAAGGTGTGAGTGACCAGC -3'
Sequencing Primer
(F):5'- CACGTGTTGCATAAAGCCATG -3'
(R):5'- TGACCAGCTTGGGGAGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation