Incidental Mutation 'R8489:Baz1b'
| ID |
657881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
067932-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 135245709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 386
(P386H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002825
AA Change: P386H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: P386H
| 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: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,254 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
T |
G |
10: 80,143,298 (GRCm39) |
L466R |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,999 (GRCm39) |
D389G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,083,962 (GRCm39) |
|
probably null |
Het |
| Cmas |
C |
A |
6: 142,702,596 (GRCm39) |
A33E |
probably benign |
Het |
| Dcaf7 |
A |
G |
11: 105,942,743 (GRCm39) |
N230S |
probably damaging |
Het |
| Dcun1d5 |
C |
A |
9: 7,206,837 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,986,389 (GRCm39) |
D58V |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,831 (GRCm39) |
Q477K |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,672,999 (GRCm39) |
N90S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,804,435 (GRCm39) |
I1848F |
possibly damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,769,534 (GRCm39) |
M522L |
probably benign |
Het |
| Fshr |
C |
A |
17: 89,293,795 (GRCm39) |
K294N |
probably benign |
Het |
| Gja10 |
T |
C |
4: 32,601,866 (GRCm39) |
I173V |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,941,614 (GRCm39) |
S32P |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,180 (GRCm39) |
N95D |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,219 (GRCm39) |
T715A |
probably damaging |
Het |
| Klrc2 |
A |
G |
6: 129,635,787 (GRCm39) |
S97P |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,721,364 (GRCm39) |
S151L |
probably benign |
Het |
| Man2a1 |
G |
T |
17: 64,908,765 (GRCm39) |
S12I |
possibly damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,164,085 (GRCm39) |
T117A |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,701 (GRCm39) |
V124E |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,180,128 (GRCm39) |
W690R |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,150,745 (GRCm39) |
K817E |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,328 (GRCm39) |
I185T |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,400 (GRCm39) |
*149Q |
probably null |
Het |
| Or5p60 |
T |
A |
7: 107,724,372 (GRCm39) |
I33F |
probably benign |
Het |
| Or8b50 |
T |
C |
9: 38,518,232 (GRCm39) |
M157T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,709,038 (GRCm39) |
I759N |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,207 (GRCm39) |
N396Y |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,766,437 (GRCm39) |
C1542S |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,274,121 (GRCm39) |
V450E |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,121 (GRCm39) |
K574E |
probably damaging |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,551 (GRCm39) |
L145P |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,089,356 (GRCm39) |
R410C |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,374,024 (GRCm39) |
S201L |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,733 (GRCm39) |
L200Q |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,479,846 (GRCm39) |
M1293V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,019 (GRCm39) |
G298D |
probably damaging |
Het |
| Scn8a |
C |
A |
15: 100,867,014 (GRCm39) |
F123L |
probably damaging |
Het |
| Snapc3 |
G |
A |
4: 83,369,531 (GRCm39) |
C353Y |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,210,978 (GRCm39) |
S231* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,574 (GRCm39) |
T2335A |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,526 (GRCm39) |
G481D |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,343 (GRCm39) |
F2027V |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,711,548 (GRCm39) |
A1449T |
probably benign |
Het |
| Ulk1 |
G |
T |
5: 110,947,002 (GRCm39) |
Y89* |
probably null |
Het |
| Usp54 |
A |
G |
14: 20,611,604 (GRCm39) |
F1071L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,587,190 (GRCm39) |
E949K |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,964 (GRCm39) |
T651S |
possibly damaging |
Het |
| Wdfy1 |
A |
G |
1: 79,739,368 (GRCm39) |
L17P |
probably damaging |
Het |
| Zfp672 |
G |
A |
11: 58,220,681 (GRCm39) |
|
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 |
|
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 |
|
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'- AGAGGAGGAATACTGGATCTCC -3'
(R):5'- TGCGGGTCATCTTCTGAGTC -3'
Sequencing Primer
(F):5'- AGAGACAGTTCTTCTCTGAGTTC -3'
(R):5'- TTTGGCCATATCCAACAAAGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation