Incidental Mutation 'R0365:Baz1b'
| ID |
36337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz1b
|
| Ensembl Gene |
ENSMUSG00000002748 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 1B |
| Synonyms |
Wbscr9, WSTF |
| MMRRC Submission |
038571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0365 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135216118-135274983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135268985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1278
(V1278A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
|
| AlphaFold |
Q9Z277 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002825
AA Change: V1278A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: V1278A
| 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: ENSMUST00000136947
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,088 (GRCm39) |
M173K |
probably benign |
Het |
| Abcb1b |
T |
A |
5: 8,856,009 (GRCm39) |
F39Y |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,566,177 (GRCm39) |
Y290C |
probably damaging |
Het |
| Alg12 |
A |
C |
15: 88,700,352 (GRCm39) |
I28R |
possibly damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,984 (GRCm39) |
D393V |
probably damaging |
Het |
| Anxa5 |
A |
T |
3: 36,511,618 (GRCm39) |
V153D |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,306,141 (GRCm39) |
M64V |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,516,118 (GRCm39) |
L1236P |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,297,713 (GRCm39) |
S424P |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,510,617 (GRCm39) |
S239R |
probably benign |
Het |
| Cbfa2t3 |
G |
T |
8: 123,361,799 (GRCm39) |
L408I |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,250 (GRCm39) |
N227K |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 110,036,486 (GRCm39) |
Q555H |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,215,094 (GRCm39) |
N1412I |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,866,105 (GRCm39) |
S302P |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,782,317 (GRCm39) |
E1563D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,912,753 (GRCm39) |
E107V |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
| Coro6 |
A |
T |
11: 77,354,916 (GRCm39) |
I60F |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,138,156 (GRCm39) |
V753E |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,573,400 (GRCm39) |
N245K |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,345,119 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam83g |
G |
T |
11: 61,593,935 (GRCm39) |
E490* |
probably null |
Het |
| Gnb1l |
T |
C |
16: 18,371,211 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3a |
T |
A |
5: 146,885,747 (GRCm39) |
W53R |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,276 (GRCm39) |
I415V |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
| Il17ra |
G |
A |
6: 120,455,410 (GRCm39) |
V340M |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,731 (GRCm39) |
H76Q |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,264 (GRCm39) |
L390P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,479 (GRCm39) |
D443G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,640,064 (GRCm39) |
R86S |
probably damaging |
Het |
| Lrrc24 |
G |
A |
15: 76,599,984 (GRCm39) |
A385V |
probably benign |
Het |
| Maea |
C |
T |
5: 33,517,787 (GRCm39) |
A109V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,570,507 (GRCm39) |
Y1188F |
probably benign |
Het |
| Nccrp1 |
T |
C |
7: 28,243,977 (GRCm39) |
D202G |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,161,027 (GRCm39) |
R571W |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,539,188 (GRCm39) |
M789K |
probably benign |
Het |
| Odad2 |
T |
A |
18: 7,217,800 (GRCm39) |
H638L |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,440 (GRCm39) |
F195S |
probably benign |
Het |
| Or5p50 |
A |
T |
7: 107,422,124 (GRCm39) |
L184* |
probably null |
Het |
| Or8d2b |
A |
T |
9: 38,788,481 (GRCm39) |
H3L |
probably benign |
Het |
| Pgpep1 |
G |
T |
8: 71,105,174 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,748,589 (GRCm39) |
V1861M |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,667 (GRCm39) |
T788K |
possibly damaging |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,902 (GRCm39) |
D16G |
possibly damaging |
Het |
| Pramel22 |
G |
T |
4: 143,382,071 (GRCm39) |
Y208* |
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,426,513 (GRCm39) |
I424N |
probably damaging |
Het |
| Psen2 |
T |
A |
1: 180,056,410 (GRCm39) |
I396F |
probably damaging |
Het |
| Psip1 |
C |
T |
4: 83,403,949 (GRCm39) |
|
probably null |
Het |
| Ptprd |
G |
A |
4: 76,055,083 (GRCm39) |
T215I |
probably damaging |
Het |
| Rec114 |
A |
G |
9: 58,648,822 (GRCm39) |
S2P |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,410 (GRCm39) |
I1181T |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,527,118 (GRCm39) |
M1436T |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,316,937 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Rorc |
G |
A |
3: 94,296,069 (GRCm39) |
G83S |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,683,725 (GRCm39) |
Q3113P |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 44,003,401 (GRCm39) |
S1698P |
possibly damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,762,828 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
A |
T |
4: 111,749,033 (GRCm39) |
Y98* |
probably null |
Het |
| Smc6 |
T |
C |
12: 11,333,175 (GRCm39) |
|
probably null |
Het |
| Sptb |
G |
T |
12: 76,647,157 (GRCm39) |
F1959L |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,621,610 (GRCm39) |
H984L |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,931,466 (GRCm39) |
C224* |
probably null |
Het |
| Ston2 |
A |
T |
12: 91,614,634 (GRCm39) |
H591Q |
probably benign |
Het |
| Tbx3 |
C |
T |
5: 119,813,315 (GRCm39) |
A222V |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,321,886 (GRCm39) |
|
probably null |
Het |
| Usp9y |
T |
C |
Y: 1,364,732 (GRCm39) |
D1027G |
probably damaging |
Het |
| Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,637,462 (GRCm39) |
E74G |
possibly damaging |
Het |
| Zwint |
C |
A |
10: 72,493,127 (GRCm39) |
S223* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGTAAGGGGCTTTAGCTCTCCG -3'
(R):5'- AACCATGTTTCTGTGAGGACCAGTG -3'
Sequencing Primer
(F):5'- GTAAGCCGTCCTGGACTGAAC -3'
(R):5'- catgaatgaaggaaggttccag -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation