Incidental Mutation 'R9086:Baz1b'
| ID |
690594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
068905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135260538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1112
(F1112L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002825
AA Change: F1112L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: F1112L
| 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: 99.6%
- 20x: 98.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,589,636 (GRCm39) |
V608A |
probably damaging |
Het |
| Arl14epl |
T |
C |
18: 47,065,661 (GRCm39) |
V142A |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,932,159 (GRCm39) |
D210G |
|
Het |
| Cage1 |
T |
A |
13: 38,206,898 (GRCm39) |
I316F |
probably damaging |
Het |
| Car2 |
A |
C |
3: 14,952,968 (GRCm39) |
T37P |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,929,573 (GRCm39) |
D542V |
probably damaging |
Het |
| Coro1b |
T |
C |
19: 4,202,525 (GRCm39) |
Y338H |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 121,838,298 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,391 (GRCm39) |
L59P |
probably damaging |
Het |
| Duoxa2 |
A |
G |
2: 122,131,821 (GRCm39) |
Y170C |
probably damaging |
Het |
| Dus2 |
T |
A |
8: 106,742,573 (GRCm39) |
Y34* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,781,493 (GRCm39) |
I266T |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Echdc2 |
C |
T |
4: 108,027,076 (GRCm39) |
Q74* |
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,025,592 (GRCm39) |
Y33H |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,754 (GRCm39) |
C378* |
probably null |
Het |
| Fbxo25 |
C |
A |
8: 13,989,621 (GRCm39) |
P356Q |
probably damaging |
Het |
| Fig4 |
G |
T |
10: 41,161,399 (GRCm39) |
T59K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,366,369 (GRCm39) |
M512L |
probably benign |
Het |
| Gdf10 |
T |
A |
14: 33,654,221 (GRCm39) |
Y243N |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
| H1f9 |
A |
T |
11: 94,859,083 (GRCm39) |
K126M |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,743,947 (GRCm39) |
H1540Q |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,529 (GRCm39) |
L310Q |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,640,051 (GRCm39) |
K1532R |
probably benign |
Het |
| Ltc4s |
T |
C |
11: 50,128,074 (GRCm39) |
Y59C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,377,944 (GRCm39) |
H1427L |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,754 (GRCm39) |
|
probably null |
Het |
| Mthfd1l |
A |
T |
10: 3,923,412 (GRCm39) |
D53V |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,577,842 (GRCm39) |
P303Q |
|
Het |
| Nrxn1 |
A |
G |
17: 90,469,792 (GRCm39) |
F1293S |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,108 (GRCm39) |
E803K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,830 (GRCm39) |
D1071G |
possibly damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,426 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,126 (GRCm39) |
I181N |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,955 (GRCm39) |
S143T |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,821,633 (GRCm39) |
E287G |
probably damaging |
Het |
| Pex13 |
C |
A |
11: 23,615,760 (GRCm39) |
G29C |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,839,412 (GRCm39) |
T869K |
unknown |
Het |
| Pitrm1 |
A |
G |
13: 6,627,517 (GRCm39) |
T912A |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,071,692 (GRCm39) |
K171E |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,929,709 (GRCm39) |
T833S |
probably damaging |
Het |
| Por |
G |
T |
5: 135,744,918 (GRCm39) |
|
probably null |
Het |
| Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
| Rabgef1 |
A |
T |
5: 130,240,792 (GRCm39) |
I304F |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,875,736 (GRCm39) |
V883A |
possibly damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,429 (GRCm39) |
D51G |
possibly damaging |
Het |
| Rnf13 |
A |
C |
3: 57,740,997 (GRCm39) |
D291A |
probably benign |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,270 (GRCm39) |
I191N |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,181,358 (GRCm39) |
L55S |
probably benign |
Het |
| Son |
T |
A |
16: 91,467,418 (GRCm39) |
F2260I |
unknown |
Het |
| Spata31h1 |
C |
T |
10: 82,124,577 (GRCm39) |
S2811N |
probably benign |
Het |
| Ssr1 |
A |
G |
13: 38,167,449 (GRCm39) |
I238T |
probably benign |
Het |
| Stk11ip |
A |
G |
1: 75,506,818 (GRCm39) |
E633G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,062 (GRCm39) |
Y211C |
probably benign |
Het |
| Sytl1 |
T |
A |
4: 132,988,175 (GRCm39) |
E60D |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,198 (GRCm39) |
I460V |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Ttll5 |
G |
A |
12: 85,964,516 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ttll5 |
A |
T |
12: 86,071,107 (GRCm39) |
T1327S |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,680,177 (GRCm39) |
C334* |
probably null |
Het |
| Wdr74 |
C |
A |
19: 8,713,358 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zbtb42 |
G |
A |
12: 112,645,848 (GRCm39) |
V8I |
probably benign |
Het |
| Zfp541 |
T |
A |
7: 15,824,329 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,076,029 (GRCm39) |
V212A |
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 |
|
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 |
|
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'- GAAGTCAGGTGCTGTTAGATCC -3'
(R):5'- CAGCTCAACTACAGGCAGTG -3'
Sequencing Primer
(F):5'- CCCTAGTTATTATGGAAGGCACGC -3'
(R):5'- AACTACAGGCAGTGGCTCTACTTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation