Incidental Mutation 'R5653:Baz1b'
| ID |
442100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
043299-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135237951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 209
(E209V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002825
AA Change: E209V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: E209V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WAC_Acf1_DNA_bd
|
21 |
120 |
2.6e-28 |
PFAM |
|
low complexity region
|
312 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
587 |
N/A |
INTRINSIC |
|
DDT
|
605 |
669 |
5.59e-17 |
SMART |
|
Pfam:WHIM1
|
725 |
773 |
2.2e-9 |
PFAM |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
coiled coil region
|
854 |
890 |
N/A |
INTRINSIC |
|
Pfam:WHIM2
|
900 |
935 |
1.3e-10 |
PFAM |
|
Pfam:WHIM3
|
991 |
1029 |
1.5e-16 |
PFAM |
|
low complexity region
|
1131 |
1148 |
N/A |
INTRINSIC |
|
PHD
|
1186 |
1232 |
1.89e-14 |
SMART |
|
RING
|
1187 |
1231 |
7.85e-2 |
SMART |
|
low complexity region
|
1245 |
1277 |
N/A |
INTRINSIC |
|
BROMO
|
1333 |
1441 |
3.63e-37 |
SMART |
|
low complexity region
|
1459 |
1472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176793
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects. [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 |
|---|
| Ablim2 |
T |
C |
5: 36,040,756 (GRCm39) |
L663P |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,421,410 (GRCm39) |
Q682L |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,678,268 (GRCm39) |
V876A |
probably damaging |
Het |
| Bard1 |
A |
T |
1: 71,070,588 (GRCm39) |
V632E |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,727,534 (GRCm39) |
Y683F |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,900,105 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,654,112 (GRCm39) |
A55T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,879,804 (GRCm39) |
N1127S |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,853 (GRCm39) |
*255R |
probably null |
Het |
| Ddias |
G |
T |
7: 92,507,937 (GRCm39) |
N659K |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,740,806 (GRCm39) |
T4127A |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,712 (GRCm39) |
Y749N |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,137,353 (GRCm39) |
L422P |
probably damaging |
Het |
| Edil3 |
A |
T |
13: 89,279,931 (GRCm39) |
N203I |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,617 (GRCm39) |
A1132V |
probably benign |
Het |
| Entpd7 |
C |
T |
19: 43,679,596 (GRCm39) |
R50* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,201,142 (GRCm39) |
D644G |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,629,808 (GRCm39) |
L40Q |
probably damaging |
Het |
| Galnt11 |
T |
A |
5: 25,453,856 (GRCm39) |
D27E |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,396 (GRCm39) |
F158I |
probably damaging |
Het |
| Gm37240 |
A |
G |
3: 84,405,102 (GRCm39) |
F234L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,439,821 (GRCm39) |
F136L |
probably damaging |
Het |
| Hspa1l |
T |
C |
17: 35,196,396 (GRCm39) |
V145A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,335,662 (GRCm39) |
T882A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,440 (GRCm39) |
N1264S |
probably benign |
Het |
| Kcnq4 |
C |
A |
4: 120,559,608 (GRCm39) |
V531L |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,353,999 (GRCm39) |
K790N |
probably damaging |
Het |
| Lipe |
T |
A |
7: 25,097,833 (GRCm39) |
I37L |
probably benign |
Het |
| Lrrc43 |
A |
G |
5: 123,637,643 (GRCm39) |
D270G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,861,999 (GRCm39) |
Y782H |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,686 (GRCm39) |
S49P |
probably damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or2h15 |
T |
A |
17: 38,442,075 (GRCm39) |
T3S |
possibly damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5p56 |
A |
T |
7: 107,589,592 (GRCm39) |
T7S |
probably benign |
Het |
| Pcbp2 |
C |
T |
15: 102,395,524 (GRCm39) |
A141V |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,316,113 (GRCm39) |
Y110F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,860,896 (GRCm39) |
L506Q |
probably damaging |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,217,029 (GRCm39) |
P510L |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,255,672 (GRCm39) |
F54L |
probably damaging |
Het |
| Rspry1 |
T |
G |
8: 95,363,239 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11b |
A |
T |
15: 54,123,262 (GRCm39) |
L113Q |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,744,411 (GRCm39) |
G411S |
probably damaging |
Het |
| Tor3a |
A |
G |
1: 156,484,080 (GRCm39) |
L290S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,794,970 (GRCm39) |
T751A |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 88,992,815 (GRCm39) |
V547I |
possibly damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,631,067 (GRCm39) |
L121P |
probably benign |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,378 (GRCm39) |
R303* |
probably null |
Het |
| Vmn2r38 |
T |
C |
7: 9,100,764 (GRCm39) |
M1V |
probably null |
Het |
|
| Other mutations in Baz1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Baz1b
|
APN |
5 |
135,245,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00589:Baz1b
|
APN |
5 |
135,225,346 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00736:Baz1b
|
APN |
5 |
135,268,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02053:Baz1b
|
APN |
5 |
135,271,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02197:Baz1b
|
APN |
5 |
135,237,951 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02236:Baz1b
|
APN |
5 |
135,246,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Baz1b
|
APN |
5 |
135,273,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Baz1b
|
APN |
5 |
135,273,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Baz1b
|
APN |
5 |
135,246,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03051:Baz1b
|
APN |
5 |
135,246,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4480001:Baz1b
|
UTSW |
5 |
135,246,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Baz1b
|
UTSW |
5 |
135,227,113 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0097:Baz1b
|
UTSW |
5 |
135,227,113 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0365:Baz1b
|
UTSW |
5 |
135,268,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Baz1b
|
UTSW |
5 |
135,271,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0698:Baz1b
|
UTSW |
5 |
135,227,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Baz1b
|
UTSW |
5 |
135,273,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Baz1b
|
UTSW |
5 |
135,259,177 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1469:Baz1b
|
UTSW |
5 |
135,246,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Baz1b
|
UTSW |
5 |
135,246,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Baz1b
|
UTSW |
5 |
135,246,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Baz1b
|
UTSW |
5 |
135,247,097 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1674:Baz1b
|
UTSW |
5 |
135,233,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Baz1b
|
UTSW |
5 |
135,271,378 (GRCm39) |
missense |
probably benign |
|
|
R1951:Baz1b
|
UTSW |
5 |
135,245,593 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2058:Baz1b
|
UTSW |
5 |
135,246,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2060:Baz1b
|
UTSW |
5 |
135,233,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Baz1b
|
UTSW |
5 |
135,246,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Baz1b
|
UTSW |
5 |
135,239,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Baz1b
|
UTSW |
5 |
135,245,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4397:Baz1b
|
UTSW |
5 |
135,273,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Baz1b
|
UTSW |
5 |
135,246,267 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4785:Baz1b
|
UTSW |
5 |
135,246,267 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5386:Baz1b
|
UTSW |
5 |
135,266,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Baz1b
|
UTSW |
5 |
135,250,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6010:Baz1b
|
UTSW |
5 |
135,246,305 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6014:Baz1b
|
UTSW |
5 |
135,246,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Baz1b
|
UTSW |
5 |
135,271,361 (GRCm39) |
missense |
probably benign |
|
|
R6194:Baz1b
|
UTSW |
5 |
135,272,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6419:Baz1b
|
UTSW |
5 |
135,271,348 (GRCm39) |
missense |
probably benign |
|
|
R6435:Baz1b
|
UTSW |
5 |
135,266,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Baz1b
|
UTSW |
5 |
135,246,293 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7341:Baz1b
|
UTSW |
5 |
135,251,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Baz1b
|
UTSW |
5 |
135,246,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7922:Baz1b
|
UTSW |
5 |
135,260,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8188:Baz1b
|
UTSW |
5 |
135,233,916 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8429:Baz1b
|
UTSW |
5 |
135,246,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8436:Baz1b
|
UTSW |
5 |
135,266,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Baz1b
|
UTSW |
5 |
135,245,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Baz1b
|
UTSW |
5 |
135,271,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8771:Baz1b
|
UTSW |
5 |
135,273,151 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8832:Baz1b
|
UTSW |
5 |
135,246,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9086:Baz1b
|
UTSW |
5 |
135,260,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Baz1b
|
UTSW |
5 |
135,239,648 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9340:Baz1b
|
UTSW |
5 |
135,246,729 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9356:Baz1b
|
UTSW |
5 |
135,239,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9448:Baz1b
|
UTSW |
5 |
135,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Baz1b
|
UTSW |
5 |
135,233,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Baz1b
|
UTSW |
5 |
135,216,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9651:Baz1b
|
UTSW |
5 |
135,252,022 (GRCm39) |
missense |
probably benign |
|
|
R9694:Baz1b
|
UTSW |
5 |
135,273,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Baz1b
|
UTSW |
5 |
135,245,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTACCTGATTTCCTGCATAGAC -3'
(R):5'- AATCTCTGTGGTGAGGACATTCC -3'
Sequencing Primer
(F):5'- TGCATAGACTAGCTCGTGGAAGTTAC -3'
(R):5'- GGACATTCCTTGACATATTCCTTAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation