Incidental Mutation 'R7997:Bicral'
ID |
616165 |
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 |
046037-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7997 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
47109046-47169408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47112534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 889
(I889F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040624]
|
AlphaFold |
Q8CHH5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040624
AA Change: I889F
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044833 Gene: ENSMUSG00000036568 AA Change: I889F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
G |
A |
14: 41,766,209 (GRCm39) |
|
probably benign |
Het |
Abra |
A |
C |
15: 41,729,593 (GRCm39) |
M269R |
probably damaging |
Het |
Atp6v0e2 |
A |
G |
6: 48,514,718 (GRCm39) |
I12V |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,569,609 (GRCm39) |
V826A |
probably benign |
Het |
Casq2 |
A |
T |
3: 101,994,158 (GRCm39) |
K68N |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,432,518 (GRCm39) |
Q135H |
possibly damaging |
Het |
Chn2 |
A |
T |
6: 54,267,270 (GRCm39) |
H253L |
probably damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,514 (GRCm39) |
E233G |
probably damaging |
Het |
Fbxo6 |
A |
G |
4: 148,231,852 (GRCm39) |
S96P |
possibly damaging |
Het |
Gimap6 |
G |
T |
6: 48,679,249 (GRCm39) |
N262K |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Grid2 |
C |
A |
6: 64,297,120 (GRCm39) |
H494Q |
possibly damaging |
Het |
Hmgcl |
T |
A |
4: 135,687,320 (GRCm39) |
Y198* |
probably null |
Het |
Hmgxb4 |
A |
T |
8: 75,727,956 (GRCm39) |
Y313F |
probably damaging |
Het |
Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
Insc |
A |
G |
7: 114,444,372 (GRCm39) |
D453G |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,501,413 (GRCm39) |
N179S |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
Kmt2a |
C |
A |
9: 44,745,220 (GRCm39) |
K1597N |
unknown |
Het |
Kntc1 |
T |
C |
5: 123,916,117 (GRCm39) |
V682A |
probably damaging |
Het |
Mcm9 |
T |
A |
10: 53,473,502 (GRCm39) |
|
probably benign |
Het |
Med30 |
T |
C |
15: 52,593,467 (GRCm39) |
L149P |
probably damaging |
Het |
Mmd2 |
T |
A |
5: 142,560,615 (GRCm39) |
H102L |
possibly damaging |
Het |
Mtres1 |
T |
C |
10: 43,401,356 (GRCm39) |
T198A |
probably benign |
Het |
Mybph |
G |
A |
1: 134,122,405 (GRCm39) |
R150H |
probably damaging |
Het |
Ndufaf4 |
A |
G |
4: 24,901,919 (GRCm39) |
T156A |
probably benign |
Het |
Or2g1 |
T |
A |
17: 38,107,053 (GRCm39) |
C239* |
probably null |
Het |
Pecr |
T |
A |
1: 72,315,475 (GRCm39) |
K92* |
probably null |
Het |
Pithd1 |
T |
C |
4: 135,703,723 (GRCm39) |
T207A |
probably benign |
Het |
Prdm10 |
T |
A |
9: 31,264,721 (GRCm39) |
C719S |
probably damaging |
Het |
Rasef |
C |
A |
4: 73,658,799 (GRCm39) |
W316L |
possibly damaging |
Het |
Robo1 |
T |
C |
16: 72,701,581 (GRCm39) |
V149A |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,702,968 (GRCm39) |
V5034D |
unknown |
Het |
Slc26a10 |
A |
G |
10: 127,009,178 (GRCm39) |
V661A |
possibly damaging |
Het |
Slc30a8 |
T |
G |
15: 52,189,081 (GRCm39) |
I232S |
possibly damaging |
Het |
Smg1 |
A |
G |
7: 117,772,364 (GRCm39) |
F1464L |
unknown |
Het |
Smg1 |
A |
C |
7: 117,772,365 (GRCm39) |
H1463Q |
unknown |
Het |
Spata1 |
G |
A |
3: 146,182,035 (GRCm39) |
A245V |
probably benign |
Het |
St8sia1 |
C |
T |
6: 142,909,376 (GRCm39) |
C40Y |
probably damaging |
Het |
Strn |
T |
C |
17: 78,991,672 (GRCm39) |
T216A |
probably benign |
Het |
Tecpr2 |
G |
A |
12: 110,900,037 (GRCm39) |
E802K |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,523,512 (GRCm39) |
I1685V |
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,427,683 (GRCm39) |
D307G |
probably benign |
Het |
Usp17le |
A |
T |
7: 104,418,046 (GRCm39) |
D365E |
possibly damaging |
Het |
Vmn1r13 |
T |
G |
6: 57,187,329 (GRCm39) |
S163A |
possibly damaging |
Het |
Vmn1r75 |
A |
T |
7: 11,614,600 (GRCm39) |
T111S |
probably damaging |
Het |
Wdr95 |
G |
T |
5: 149,502,622 (GRCm39) |
|
probably null |
Het |
Zfp292 |
G |
A |
4: 34,808,688 (GRCm39) |
P1457L |
probably damaging |
Het |
Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
probably damaging |
Het |
Zfp606 |
T |
C |
7: 12,228,134 (GRCm39) |
S752P |
possibly damaging |
Het |
Zscan29 |
T |
G |
2: 120,991,221 (GRCm39) |
S856R |
probably benign |
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 |
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 |
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'- GAATTCCTCAGCGCTTTGTC -3'
(R):5'- GACGAAGCTGTACCTGAGAC -3'
Sequencing Primer
(F):5'- ATCTCCATGTGCGAGCTG -3'
(R):5'- TGTACCTGAGACCCCGCTTG -3'
|
Posted On |
2020-01-23 |