Incidental Mutation 'R6010:Baz1b'
| ID |
479702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
044187-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135246305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 585
(E585K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002825
AA Change: E585K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: E585K
| 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
|
| Meta Mutation Damage Score |
0.1728 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
G |
4: 56,743,870 (GRCm39) |
I132M |
possibly damaging |
Het |
| Agap2 |
A |
T |
10: 126,926,779 (GRCm39) |
I939F |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,378 (GRCm39) |
V80A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,914,285 (GRCm39) |
D67G |
probably damaging |
Het |
| Avl9 |
G |
A |
6: 56,730,375 (GRCm39) |
V573M |
possibly damaging |
Het |
| Brms1l |
T |
C |
12: 55,914,985 (GRCm39) |
F298S |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,363 (GRCm39) |
V278I |
possibly damaging |
Het |
| Car10 |
A |
G |
11: 93,490,149 (GRCm39) |
I297V |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,962,190 (GRCm39) |
C677Y |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,495 (GRCm39) |
D872E |
possibly damaging |
Het |
| Cgrrf1 |
A |
C |
14: 47,091,158 (GRCm39) |
Q227H |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,121,711 (GRCm39) |
I46T |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,796,917 (GRCm39) |
H621L |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,755,437 (GRCm39) |
R351W |
possibly damaging |
Het |
| Cnot6 |
A |
T |
11: 49,574,066 (GRCm39) |
Y201* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,245,630 (GRCm39) |
V127A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,701,219 (GRCm39) |
V2566I |
unknown |
Het |
| Cope |
T |
A |
8: 70,761,162 (GRCm39) |
M88K |
probably damaging |
Het |
| Cops4 |
A |
G |
5: 100,691,776 (GRCm39) |
I358M |
possibly damaging |
Het |
| Coro7 |
T |
C |
16: 4,487,820 (GRCm39) |
E130G |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,213 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,701,160 (GRCm39) |
F217L |
probably damaging |
Het |
| Dmac1 |
A |
G |
4: 75,196,473 (GRCm39) |
S6P |
unknown |
Het |
| Drd4 |
A |
T |
7: 140,874,709 (GRCm39) |
I367F |
probably damaging |
Het |
| Efcc1 |
T |
A |
6: 87,730,711 (GRCm39) |
|
probably null |
Het |
| Emid1 |
A |
T |
11: 5,085,389 (GRCm39) |
M119K |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,202,596 (GRCm39) |
D1237N |
probably benign |
Het |
| Fbxl18 |
C |
A |
5: 142,858,153 (GRCm39) |
R761L |
probably damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,205 (GRCm39) |
L185R |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gucd1 |
G |
T |
10: 75,256,600 (GRCm39) |
|
probably benign |
Het |
| Helb |
G |
A |
10: 119,941,788 (GRCm39) |
T300M |
probably damaging |
Het |
| Ifna11 |
A |
T |
4: 88,738,278 (GRCm39) |
H28L |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,950 (GRCm39) |
N723I |
probably benign |
Het |
| Kcnb2 |
C |
T |
1: 15,780,790 (GRCm39) |
S554F |
possibly damaging |
Het |
| Med1 |
A |
C |
11: 98,049,188 (GRCm39) |
V536G |
probably damaging |
Het |
| Nanog |
A |
C |
6: 122,690,255 (GRCm39) |
N195T |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,031 (GRCm39) |
S94F |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,071 (GRCm39) |
S154R |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,388,314 (GRCm39) |
L239* |
probably null |
Het |
| Nrg1 |
G |
A |
8: 32,308,600 (GRCm39) |
T483M |
probably damaging |
Het |
| Nup98 |
G |
T |
7: 101,829,636 (GRCm39) |
F391L |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,087 (GRCm39) |
I305K |
probably benign |
Het |
| Or5ar1 |
T |
C |
2: 85,671,905 (GRCm39) |
I77V |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,886 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,374 (GRCm39) |
I135V |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,266,020 (GRCm39) |
V59A |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,311,469 (GRCm39) |
R254H |
possibly damaging |
Het |
| Pierce2 |
A |
T |
9: 72,887,488 (GRCm39) |
|
probably null |
Het |
| Psme2 |
C |
A |
14: 55,824,980 (GRCm39) |
|
probably null |
Het |
| Ptprc |
T |
A |
1: 138,028,794 (GRCm39) |
H468L |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,676,604 (GRCm39) |
I184N |
probably damaging |
Het |
| Serpinb1c |
A |
G |
13: 33,066,042 (GRCm39) |
L301P |
probably damaging |
Het |
| Smim6 |
G |
T |
11: 115,804,219 (GRCm39) |
G2V |
probably damaging |
Het |
| Snrpb2 |
A |
G |
2: 142,912,815 (GRCm39) |
D146G |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,832 (GRCm39) |
S954C |
possibly damaging |
Het |
| Telo2 |
G |
T |
17: 25,323,852 (GRCm39) |
T568N |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 43,990,373 (GRCm39) |
|
probably null |
Het |
| Upf1 |
A |
G |
8: 70,789,675 (GRCm39) |
V720A |
probably damaging |
Het |
| Vmn1r81 |
T |
C |
7: 11,994,349 (GRCm39) |
I86M |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,363,955 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,916,900 (GRCm39) |
|
probably null |
Het |
| Zfp385c |
A |
T |
11: 100,548,363 (GRCm39) |
S30T |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,577,254 (GRCm39) |
L108* |
probably null |
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 |
|
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'- TAGAGCCCGTCTTCCAGAAG -3'
(R):5'- TGCACTCAAGGCTTCCATTAGG -3'
Sequencing Primer
(F):5'- GCTCTTGTCCAGAAACGCTATGAG -3'
(R):5'- TCCATTAGGGACACAGCAGTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation