Incidental Mutation 'R5808:Baz1b'
ID |
501568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Baz1b
|
Ensembl Gene |
ENSMUSG00000002748 |
Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
Synonyms |
Wbscr9, WSTF |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5808 (G1)
|
Quality Score |
159 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 135250812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 866
(V866E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
AlphaFold |
Q9Z277 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002825
AA Change: V866E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000002825 Gene: ENSMUSG00000002748 AA Change: V866E
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: ENSMUST00000142307
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,746 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,744 (GRCm39) |
E122G |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,406,428 (GRCm39) |
S139G |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
Sec23ip |
C |
A |
7: 128,373,908 (GRCm39) |
A710E |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
Trappc12 |
T |
A |
12: 28,796,863 (GRCm39) |
D223V |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
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 |
R5653:Baz1b
|
UTSW |
5 |
135,237,951 (GRCm39) |
missense |
probably benign |
0.20 |
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'- CATCCTGGTCTGTTTAGGGATCC -3'
(R):5'- TGCACAATGAGAAATCATCGCTAC -3'
Sequencing Primer
(F):5'- AGGGATCCTGTGGCAGTGAG -3'
(R):5'- CAGAAGCAGTTTGTCTCTAGCAC -3'
|
Posted On |
2017-12-01 |