Incidental Mutation 'R3977:Bicral'
| ID |
311098 |
| 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 |
040940-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3977 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47109046-47169408 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 47141917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040624]
|
| AlphaFold |
Q8CHH5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000040624
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000044833
Gene: ENSMUSG00000036568
AA Change: M1L
| 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 |
|
| Meta Mutation Damage Score |
0.6496 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
96% (50/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
C |
T |
11: 105,872,664 (GRCm39) |
P942L |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,026,016 (GRCm39) |
E363G |
possibly damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,510 (GRCm39) |
L172P |
possibly damaging |
Het |
| Cln3 |
G |
A |
7: 126,179,308 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,668,071 (GRCm39) |
I1526T |
possibly damaging |
Het |
| Entr1 |
T |
A |
2: 26,274,805 (GRCm39) |
N364I |
probably damaging |
Het |
| Fmo3 |
T |
G |
1: 162,786,147 (GRCm39) |
E281A |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,470 (GRCm39) |
I194V |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,126,098 (GRCm39) |
V396A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il19 |
A |
T |
1: 130,863,770 (GRCm39) |
C74S |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,719,562 (GRCm39) |
T703A |
unknown |
Het |
| Lrig2 |
A |
T |
3: 104,365,160 (GRCm39) |
V664E |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,348,430 (GRCm39) |
K2755R |
unknown |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,796,001 (GRCm39) |
N13D |
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,850,704 (GRCm39) |
|
probably benign |
Het |
| Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Ogfod2 |
C |
A |
5: 124,251,272 (GRCm39) |
|
probably null |
Het |
| Or10q3 |
C |
A |
19: 11,847,869 (GRCm39) |
R237L |
possibly damaging |
Het |
| Or10v1 |
T |
A |
19: 11,873,880 (GRCm39) |
F165Y |
probably damaging |
Het |
| Or11a4 |
T |
C |
17: 37,536,049 (GRCm39) |
V11A |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4c3 |
C |
A |
2: 89,852,089 (GRCm39) |
G107V |
probably damaging |
Het |
| Or6c5 |
C |
T |
10: 129,074,377 (GRCm39) |
R120C |
probably damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,954,305 (GRCm39) |
M362V |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,713 (GRCm39) |
S983P |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,780,957 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
A |
T |
1: 60,537,682 (GRCm39) |
D491E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,786,969 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
T |
C |
11: 29,643,819 (GRCm39) |
L5P |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,930,723 (GRCm39) |
V400I |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,204,698 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,108 (GRCm39) |
F329S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Ten1 |
G |
A |
11: 116,107,771 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
C |
G |
1: 19,174,718 (GRCm39) |
S57C |
possibly damaging |
Het |
| Tnr |
A |
G |
1: 159,719,593 (GRCm39) |
M957V |
probably benign |
Het |
| Trbv13-3 |
A |
G |
6: 41,107,079 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
C |
T |
2: 166,637,446 (GRCm39) |
A134V |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,607,345 (GRCm39) |
Y126C |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
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 |
|
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'- GCTAGTTATTGCTGTAACCATGGTA -3'
(R):5'- TGGACCTCTATGTTGAAACTGATTT -3'
Sequencing Primer
(F):5'- CCAGGAGCTTAAGATAGCT -3'
(R):5'- TTCCAACTCCTGGGATCAAGGTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation