Incidental Mutation 'R8429:Baz1b'
| ID |
653643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
067774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135246185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 545
(K545E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002825
AA Change: K545E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: K545E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
T |
17: 48,347,875 (GRCm39) |
L143* |
probably null |
Het |
| 2900026A02Rik |
T |
C |
5: 113,331,302 (GRCm39) |
T971A |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,093,208 (GRCm39) |
C1022S |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,340 (GRCm39) |
N334K |
probably benign |
Het |
| Bin3 |
A |
G |
14: 70,374,598 (GRCm39) |
Y209C |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,397,067 (GRCm39) |
A223T |
probably benign |
Het |
| C3 |
A |
G |
17: 57,529,811 (GRCm39) |
V555A |
probably damaging |
Het |
| Calm3 |
T |
A |
7: 16,653,592 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
A |
11: 22,946,030 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,389,504 (GRCm39) |
D1443N |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Epha4 |
G |
T |
1: 77,366,673 (GRCm39) |
Q591K |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,088,133 (GRCm39) |
F929L |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,366,522 (GRCm39) |
D95V |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,759 (GRCm39) |
H190L |
probably benign |
Het |
| Gm45713 |
T |
C |
7: 44,785,540 (GRCm39) |
S2G |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,710,914 (GRCm39) |
I877M |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,255 (GRCm39) |
I119V |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,538 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
C |
A |
6: 145,110,949 (GRCm39) |
D251E |
probably damaging |
Het |
| Krt13 |
A |
T |
11: 100,011,951 (GRCm39) |
L124Q |
probably damaging |
Het |
| Larp1b |
A |
G |
3: 40,931,662 (GRCm39) |
*336W |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,032 (GRCm39) |
N160I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,487 (GRCm39) |
Q331K |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,944,460 (GRCm39) |
V930E |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,173 (GRCm39) |
F252I |
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,634,391 (GRCm39) |
Y511H |
probably damaging |
Het |
| Naxe |
C |
A |
3: 87,965,459 (GRCm39) |
S84I |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,523 (GRCm39) |
D634V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,481,909 (GRCm39) |
Q1206* |
probably null |
Het |
| Nr1d2 |
G |
A |
14: 18,215,409 (GRCm38) |
T201I |
probably benign |
Het |
| Nt5el |
A |
G |
13: 105,255,296 (GRCm39) |
Y459C |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,141,904 (GRCm39) |
H99Y |
probably damaging |
Het |
| Or10ag60 |
G |
T |
2: 87,437,868 (GRCm39) |
L45F |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,313,840 (GRCm39) |
V50I |
possibly damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,990 (GRCm39) |
V197A |
possibly damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,092 (GRCm39) |
V219A |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,365,916 (GRCm39) |
Y214N |
probably damaging |
Het |
| Pex7 |
T |
C |
10: 19,770,074 (GRCm39) |
T145A |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,304 (GRCm39) |
S146N |
probably benign |
Het |
| Ralgapb |
C |
T |
2: 158,268,217 (GRCm39) |
P107S |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,074,978 (GRCm39) |
M506T |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,821 (GRCm39) |
N203D |
possibly damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,562,342 (GRCm39) |
I240F |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,125,301 (GRCm39) |
Q2570K |
possibly damaging |
Het |
| Syt17 |
T |
A |
7: 118,033,564 (GRCm39) |
Y144F |
probably benign |
Het |
| Thbd |
G |
T |
2: 148,249,457 (GRCm39) |
T137K |
possibly damaging |
Het |
| Tmem114 |
A |
G |
16: 8,230,031 (GRCm39) |
F124L |
probably damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,556 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
G |
13: 67,406,152 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,492 (GRCm39) |
S181P |
probably benign |
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 |
|
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 |
|
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'- CAGCTCTGCATCTGATTGCC -3'
(R):5'- GAGTAACAGCTCAGGAACTCC -3'
Sequencing Primer
(F):5'- CTGCATCTGATTGCCTATTACAAAG -3'
(R):5'- CATCCCCAAAAAGAGTGTTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation