Incidental Mutation 'IGL00516:Baz1b'
ID |
5526 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00516
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135245444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 298
(Y298H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
AlphaFold |
Q9Z277 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002825
AA Change: Y298H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002825 Gene: ENSMUSG00000002748 AA Change: Y298H
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176793
|
Coding Region Coverage |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Baz1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |