Incidental Mutation 'R8436:Baz1b'
| ID |
653993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
067777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8436 (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 135266821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1210
(H1210R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002825
AA Change: H1210R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: H1210R
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,936 (GRCm39) |
I1278V |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,296,070 (GRCm39) |
S128L |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,800,398 (GRCm39) |
N1603K |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,469,026 (GRCm39) |
N300S |
possibly damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,676,940 (GRCm39) |
|
probably null |
Het |
| Cpb2 |
C |
A |
14: 75,510,015 (GRCm39) |
F258L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,218 (GRCm39) |
D767E |
probably damaging |
Het |
| Dennd3 |
C |
T |
15: 73,434,198 (GRCm39) |
T956I |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,129,228 (GRCm39) |
T245A |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,864 (GRCm39) |
V239A |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,692,810 (GRCm39) |
A260T |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,446,421 (GRCm39) |
D205G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,481,210 (GRCm39) |
S3005G |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,479,553 (GRCm39) |
L148P |
probably damaging |
Het |
| Irf2 |
C |
T |
8: 47,271,929 (GRCm39) |
T172M |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,970 (GRCm39) |
H82R |
possibly damaging |
Het |
| Kcnc4 |
G |
T |
3: 107,366,084 (GRCm39) |
N41K |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,682,870 (GRCm39) |
A490V |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,349,649 (GRCm39) |
E946K |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,452,200 (GRCm39) |
Y359N |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,349,709 (GRCm39) |
S1365G |
probably damaging |
Het |
| P3h3 |
C |
A |
6: 124,828,041 (GRCm39) |
|
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,930,259 (GRCm39) |
V59D |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,683,613 (GRCm39) |
K168R |
probably benign |
Het |
| Prg4 |
G |
T |
1: 150,331,318 (GRCm39) |
P452T |
unknown |
Het |
| Prl2b1 |
T |
C |
13: 27,567,442 (GRCm39) |
N234S |
possibly damaging |
Het |
| Rnd1 |
T |
A |
15: 98,574,455 (GRCm39) |
T41S |
possibly damaging |
Het |
| Sall4 |
G |
A |
2: 168,597,830 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,586,298 (GRCm39) |
A301T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,044,053 (GRCm39) |
T3531I |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,004,761 (GRCm39) |
D894G |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,178,659 (GRCm39) |
N4605S |
probably benign |
Het |
| Syt4 |
A |
C |
18: 31,573,472 (GRCm39) |
C348G |
possibly damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,034,778 (GRCm39) |
T28M |
probably damaging |
Het |
| Tmco1 |
A |
G |
1: 167,136,254 (GRCm39) |
D5G |
|
Het |
| Tnfsf12 |
T |
C |
11: 69,577,713 (GRCm39) |
K235E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,450 (GRCm39) |
S2396P |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,304,191 (GRCm39) |
D125V |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,771 (GRCm39) |
F35S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,649 (GRCm39) |
N619D |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,718,157 (GRCm39) |
V521A |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,273,035 (GRCm39) |
L166Q |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,821,022 (GRCm39) |
C706* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zscan21 |
A |
T |
5: 138,116,178 (GRCm39) |
Y30F |
unknown |
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 |
|
R8429:Baz1b
|
UTSW |
5 |
135,246,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGCTGTTCTAGAGGATCCGTG -3'
(R):5'- GCTTTAACTCCTTAGAAACGCTCAG -3'
Sequencing Primer
(F):5'- TGTTGGGCAGCTAGGACTCC -3'
(R):5'- TTTGTAGCCAAGGATGACCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation