Incidental Mutation 'R2496:Baz1b'
| ID |
251177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
040410-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2496 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135239629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 243
(R243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002825
AA Change: R243Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: R243Q
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
| Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,680 (GRCm39) |
W10R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
| Dpp4 |
G |
A |
2: 62,217,477 (GRCm39) |
T40M |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
| E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,121,069 (GRCm39) |
A79E |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
| Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
| Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
| Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
| Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
| H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
| Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
| Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 19,883,750 (GRCm39) |
Y134F |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mdfic |
A |
T |
6: 15,741,041 (GRCm39) |
H45L |
possibly damaging |
Het |
| Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
| Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
| Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
| Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
| Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
| Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
| Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
| Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
| Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
| Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
| Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
probably damaging |
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 |
|
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 |
|
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'- AACTAGAAAAGTTGCTGGTGTG -3'
(R):5'- CAGGTGTCAAACATTAATAGTGACC -3'
Sequencing Primer
(F):5'- TGTAATGAGATCTGACGCCC -3'
(R):5'- GTGACCTTACCTTATATGGGTCAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation