Incidental Mutation 'R3979:Bicral'
| ID |
311221 |
| 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 |
040942-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3979 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.2%
- 20x: 94.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,154,320 (GRCm39) |
V82A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ak3 |
T |
A |
19: 29,025,118 (GRCm39) |
S38C |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,147,354 (GRCm39) |
N170S |
probably benign |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,076 (GRCm39) |
L598P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,828,085 (GRCm39) |
D611V |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,489,787 (GRCm39) |
E246D |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,692,245 (GRCm39) |
Y294* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,386,402 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
T |
C |
5: 29,956,006 (GRCm39) |
F46L |
possibly damaging |
Het |
| Exoc7 |
T |
C |
11: 116,187,588 (GRCm39) |
E275G |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,877 (GRCm39) |
V35A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,137,552 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,409,682 (GRCm39) |
H218Y |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,304,105 (GRCm39) |
K109Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,546 (GRCm39) |
D443G |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,861,017 (GRCm39) |
G220D |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,173,596 (GRCm39) |
C242R |
probably benign |
Het |
| Madd |
G |
A |
2: 91,007,173 (GRCm39) |
T313I |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 112,006,885 (GRCm39) |
|
probably null |
Het |
| Neil3 |
T |
C |
8: 54,076,699 (GRCm39) |
T79A |
probably damaging |
Het |
| Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4a66 |
T |
C |
2: 88,530,792 (GRCm39) |
S294G |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Rarres1 |
A |
G |
3: 67,403,143 (GRCm39) |
V86A |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,022,737 (GRCm39) |
K1059E |
probably damaging |
Het |
| Sft2d1rt |
T |
A |
11: 45,942,853 (GRCm39) |
K90M |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,647 (GRCm39) |
H259R |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,699,320 (GRCm39) |
D515G |
possibly damaging |
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 |
| Tasor |
T |
C |
14: 27,199,087 (GRCm39) |
L1335S |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,481 (GRCm39) |
V182A |
probably damaging |
Het |
| Tcof1 |
C |
T |
18: 60,964,605 (GRCm39) |
E674K |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,738 (GRCm39) |
W25052R |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,693,168 (GRCm39) |
N1746I |
probably benign |
Het |
| Vax2 |
T |
C |
6: 83,714,529 (GRCm39) |
V148A |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,252 (GRCm39) |
V372A |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,752,558 (GRCm39) |
G62D |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,324,701 (GRCm39) |
R432H |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,636 (GRCm39) |
T537A |
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 |
|
|
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'- GCTAGTTATTGCTGTAACCATGGTAA -3'
(R):5'- TGGACCTCTATGTTGAAACTGATTT -3'
Sequencing Primer
(F):5'- AGGCCAGGAGCTTAAGAT -3'
(R):5'- TTCCAACTCCTGGGATCAAGGTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation