Incidental Mutation 'R0826:Baz1a'
ID |
78250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Baz1a
|
Ensembl Gene |
ENSMUSG00000035021 |
Gene Name |
bromodomain adjacent to zinc finger domain 1A |
Synonyms |
Gtl5, Wcrf180, Acf1 |
MMRRC Submission |
039006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0826 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 54977097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 9
(Y9*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038926
AA Change: Y388*
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: Y388*
Domain | Start | End | E-Value | Type |
Pfam:WAC_Acf1_DNA_bd
|
23 |
122 |
4.4e-36 |
PFAM |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
coiled coil region
|
312 |
397 |
N/A |
INTRINSIC |
Pfam:DDT
|
423 |
485 |
2.3e-14 |
PFAM |
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
Pfam:WHIM1
|
593 |
641 |
1.5e-8 |
PFAM |
low complexity region
|
658 |
696 |
N/A |
INTRINSIC |
low complexity region
|
725 |
738 |
N/A |
INTRINSIC |
low complexity region
|
774 |
796 |
N/A |
INTRINSIC |
low complexity region
|
861 |
873 |
N/A |
INTRINSIC |
Pfam:WHIM3
|
894 |
932 |
2e-16 |
PFAM |
low complexity region
|
1058 |
1073 |
N/A |
INTRINSIC |
PHD
|
1151 |
1197 |
9.46e-15 |
SMART |
RING
|
1152 |
1196 |
6.88e-1 |
SMART |
low complexity region
|
1214 |
1257 |
N/A |
INTRINSIC |
BROMO
|
1426 |
1534 |
2.18e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173433
AA Change: Y388*
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: Y388*
Domain | Start | End | E-Value | Type |
Pfam:WAC_Acf1_DNA_bd
|
22 |
122 |
1.1e-37 |
PFAM |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
coiled coil region
|
312 |
397 |
N/A |
INTRINSIC |
DDT
|
422 |
487 |
1.54e-19 |
SMART |
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
Pfam:WHIM1
|
592 |
640 |
1.8e-8 |
PFAM |
low complexity region
|
657 |
695 |
N/A |
INTRINSIC |
low complexity region
|
722 |
735 |
N/A |
INTRINSIC |
low complexity region
|
771 |
793 |
N/A |
INTRINSIC |
low complexity region
|
858 |
870 |
N/A |
INTRINSIC |
low complexity region
|
1055 |
1070 |
N/A |
INTRINSIC |
PHD
|
1148 |
1194 |
9.46e-15 |
SMART |
RING
|
1149 |
1193 |
6.88e-1 |
SMART |
low complexity region
|
1211 |
1254 |
N/A |
INTRINSIC |
BROMO
|
1423 |
1531 |
2.18e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174225
AA Change: Y9*
|
SMART Domains |
Protein: ENSMUSP00000133324 Gene: ENSMUSG00000035021 AA Change: Y9*
Domain | Start | End | E-Value | Type |
Pfam:DDT
|
45 |
78 |
8.8e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 95.7%
- 20x: 86.3%
|
Validation Efficiency |
100% (69/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] PHENOTYPE: Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4931406C07Rik |
T |
C |
9: 15,203,292 (GRCm39) |
|
probably null |
Het |
Adamts16 |
T |
A |
13: 70,916,811 (GRCm39) |
D727V |
possibly damaging |
Het |
Anxa10 |
A |
C |
8: 62,529,318 (GRCm39) |
L133* |
probably null |
Het |
Arfgef3 |
G |
A |
10: 18,465,414 (GRCm39) |
T2143I |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,579,950 (GRCm39) |
T333A |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,238,450 (GRCm39) |
T1310A |
probably benign |
Het |
Atg10 |
C |
T |
13: 91,084,705 (GRCm39) |
|
probably null |
Het |
Atp1a1 |
A |
G |
3: 101,492,169 (GRCm39) |
F569S |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,464,203 (GRCm39) |
W849R |
possibly damaging |
Het |
Catsperg2 |
C |
T |
7: 29,405,049 (GRCm39) |
D702N |
possibly damaging |
Het |
Clasrp |
G |
T |
7: 19,318,226 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Col19a1 |
T |
C |
1: 24,565,467 (GRCm39) |
K288R |
unknown |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
A |
G |
6: 18,405,177 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,025,864 (GRCm39) |
I828F |
probably benign |
Het |
Dpf2 |
G |
T |
19: 5,957,155 (GRCm39) |
Q23K |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,114,229 (GRCm39) |
I342F |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,671,614 (GRCm39) |
L460P |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,380,090 (GRCm39) |
E871G |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,040,780 (GRCm39) |
|
probably null |
Het |
Fam243 |
G |
A |
16: 92,118,075 (GRCm39) |
S71L |
probably benign |
Het |
Fpr-rs7 |
A |
T |
17: 20,333,888 (GRCm39) |
S201T |
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,245,797 (GRCm39) |
F685S |
probably damaging |
Het |
Helz2 |
C |
T |
2: 180,882,646 (GRCm39) |
R49H |
possibly damaging |
Het |
Ica1 |
A |
G |
6: 8,667,375 (GRCm39) |
|
probably benign |
Het |
Ift56 |
A |
G |
6: 38,402,049 (GRCm39) |
|
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kif21a |
A |
G |
15: 90,881,744 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
A |
1: 193,013,216 (GRCm39) |
C480* |
probably null |
Het |
Lamc2 |
A |
G |
1: 153,027,828 (GRCm39) |
S199P |
probably damaging |
Het |
Lrfn3 |
T |
C |
7: 30,059,676 (GRCm39) |
N183S |
probably benign |
Het |
Lsm14a |
C |
A |
7: 34,070,470 (GRCm39) |
|
probably benign |
Het |
Mest |
C |
A |
6: 30,742,813 (GRCm39) |
H146Q |
probably damaging |
Het |
Mmp27 |
T |
C |
9: 7,579,010 (GRCm39) |
V339A |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,426,285 (GRCm39) |
|
probably benign |
Het |
Myoz1 |
C |
T |
14: 20,703,679 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,133 (GRCm39) |
M286V |
probably benign |
Het |
Optc |
T |
C |
1: 133,832,893 (GRCm39) |
K69R |
probably benign |
Het |
Or13c3 |
C |
T |
4: 52,855,566 (GRCm39) |
V316I |
probably benign |
Het |
Or2y1c |
A |
T |
11: 49,361,158 (GRCm39) |
Y60F |
probably damaging |
Het |
Or4a77 |
A |
C |
2: 89,487,181 (GRCm39) |
N201K |
possibly damaging |
Het |
Or8g18 |
C |
T |
9: 39,149,725 (GRCm39) |
M1I |
probably null |
Het |
Osbpl3 |
A |
T |
6: 50,323,357 (GRCm39) |
M242K |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,267,624 (GRCm39) |
S64C |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,245,672 (GRCm39) |
S859P |
possibly damaging |
Het |
Ppp1r12a |
G |
T |
10: 108,066,414 (GRCm39) |
A202S |
possibly damaging |
Het |
Rab32 |
A |
T |
10: 10,426,611 (GRCm39) |
F112I |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,445,245 (GRCm39) |
|
probably benign |
Het |
Sbk1 |
C |
T |
7: 125,891,007 (GRCm39) |
P147L |
probably damaging |
Het |
Shpk |
T |
A |
11: 73,094,857 (GRCm39) |
M91K |
probably damaging |
Het |
Slco6c1 |
C |
T |
1: 97,055,826 (GRCm39) |
S25N |
probably benign |
Het |
Snx2 |
A |
T |
18: 53,327,594 (GRCm39) |
T107S |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,422,148 (GRCm39) |
V397I |
possibly damaging |
Het |
Tmem131l |
T |
C |
3: 83,805,724 (GRCm39) |
D1573G |
probably damaging |
Het |
Tnfrsf8 |
A |
G |
4: 145,011,708 (GRCm39) |
|
probably benign |
Het |
Tpmt |
T |
C |
13: 47,194,965 (GRCm39) |
E36G |
probably benign |
Het |
Trim30c |
T |
A |
7: 104,032,688 (GRCm39) |
T257S |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,815,932 (GRCm39) |
L150P |
probably benign |
Het |
Upf3a |
G |
C |
8: 13,848,338 (GRCm39) |
G378A |
possibly damaging |
Het |
Yeats2 |
A |
T |
16: 20,011,966 (GRCm39) |
K514* |
probably null |
Het |
Zfp11 |
A |
G |
5: 129,734,589 (GRCm39) |
Y291H |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,378 (GRCm39) |
D399G |
possibly damaging |
Het |
|
Other mutations in Baz1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01108:Baz1a
|
APN |
12 |
54,963,516 (GRCm39) |
missense |
probably benign |
|
IGL01138:Baz1a
|
APN |
12 |
54,977,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01298:Baz1a
|
APN |
12 |
55,001,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02639:Baz1a
|
APN |
12 |
54,942,810 (GRCm39) |
splice site |
probably benign |
|
IGL02995:Baz1a
|
APN |
12 |
54,947,232 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Baz1a
|
APN |
12 |
54,969,896 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03104:Baz1a
|
APN |
12 |
54,941,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03135:Baz1a
|
APN |
12 |
54,976,375 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03151:Baz1a
|
APN |
12 |
54,955,934 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03235:Baz1a
|
APN |
12 |
54,945,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:Baz1a
|
APN |
12 |
54,974,352 (GRCm39) |
nonsense |
probably null |
|
Bezos
|
UTSW |
12 |
54,941,816 (GRCm39) |
nonsense |
probably null |
|
Flavia
|
UTSW |
12 |
55,022,093 (GRCm39) |
missense |
probably damaging |
1.00 |
gumdrops
|
UTSW |
12 |
54,947,233 (GRCm39) |
missense |
probably damaging |
1.00 |
Kilter
|
UTSW |
12 |
54,947,317 (GRCm39) |
missense |
probably damaging |
0.99 |
Kisses
|
UTSW |
12 |
55,021,922 (GRCm39) |
missense |
probably damaging |
1.00 |
liverlips
|
UTSW |
12 |
54,967,928 (GRCm39) |
missense |
possibly damaging |
0.68 |
smooch
|
UTSW |
12 |
54,963,608 (GRCm39) |
missense |
probably damaging |
1.00 |
Smootch
|
UTSW |
12 |
54,958,170 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Baz1a
|
UTSW |
12 |
54,977,095 (GRCm39) |
missense |
probably benign |
0.03 |
R0127:Baz1a
|
UTSW |
12 |
54,945,491 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0183:Baz1a
|
UTSW |
12 |
54,958,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R0393:Baz1a
|
UTSW |
12 |
54,965,221 (GRCm39) |
critical splice donor site |
probably null |
|
R0532:Baz1a
|
UTSW |
12 |
54,981,605 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0614:Baz1a
|
UTSW |
12 |
54,988,304 (GRCm39) |
nonsense |
probably null |
|
R0626:Baz1a
|
UTSW |
12 |
55,022,055 (GRCm39) |
missense |
probably damaging |
0.99 |
R0654:Baz1a
|
UTSW |
12 |
54,958,182 (GRCm39) |
missense |
probably benign |
0.01 |
R0782:Baz1a
|
UTSW |
12 |
54,941,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0855:Baz1a
|
UTSW |
12 |
54,947,348 (GRCm39) |
splice site |
probably benign |
|
R0927:Baz1a
|
UTSW |
12 |
54,941,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Baz1a
|
UTSW |
12 |
54,945,216 (GRCm39) |
missense |
probably benign |
0.00 |
R1079:Baz1a
|
UTSW |
12 |
54,941,785 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1157:Baz1a
|
UTSW |
12 |
54,976,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1647:Baz1a
|
UTSW |
12 |
55,021,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Baz1a
|
UTSW |
12 |
54,965,330 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1739:Baz1a
|
UTSW |
12 |
54,945,573 (GRCm39) |
nonsense |
probably null |
|
R1762:Baz1a
|
UTSW |
12 |
54,955,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Baz1a
|
UTSW |
12 |
54,945,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Baz1a
|
UTSW |
12 |
54,947,122 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2037:Baz1a
|
UTSW |
12 |
54,976,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Baz1a
|
UTSW |
12 |
54,958,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R2215:Baz1a
|
UTSW |
12 |
55,022,154 (GRCm39) |
nonsense |
probably null |
|
R2282:Baz1a
|
UTSW |
12 |
54,963,597 (GRCm39) |
nonsense |
probably null |
|
R2875:Baz1a
|
UTSW |
12 |
54,969,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R2890:Baz1a
|
UTSW |
12 |
54,945,302 (GRCm39) |
missense |
probably benign |
|
R2971:Baz1a
|
UTSW |
12 |
54,970,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R3404:Baz1a
|
UTSW |
12 |
54,963,774 (GRCm39) |
missense |
probably benign |
0.00 |
R3419:Baz1a
|
UTSW |
12 |
54,993,684 (GRCm39) |
missense |
probably benign |
0.05 |
R3699:Baz1a
|
UTSW |
12 |
54,963,831 (GRCm39) |
missense |
probably benign |
0.09 |
R3899:Baz1a
|
UTSW |
12 |
54,981,589 (GRCm39) |
missense |
probably benign |
0.01 |
R3927:Baz1a
|
UTSW |
12 |
54,967,928 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4050:Baz1a
|
UTSW |
12 |
54,976,404 (GRCm39) |
missense |
probably benign |
0.00 |
R4072:Baz1a
|
UTSW |
12 |
54,988,345 (GRCm39) |
missense |
probably benign |
0.18 |
R4196:Baz1a
|
UTSW |
12 |
54,958,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4289:Baz1a
|
UTSW |
12 |
54,947,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R4455:Baz1a
|
UTSW |
12 |
54,958,153 (GRCm39) |
missense |
probably benign |
0.26 |
R4583:Baz1a
|
UTSW |
12 |
54,969,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R4622:Baz1a
|
UTSW |
12 |
54,988,300 (GRCm39) |
missense |
probably benign |
0.00 |
R4807:Baz1a
|
UTSW |
12 |
54,945,267 (GRCm39) |
missense |
probably benign |
0.28 |
R4998:Baz1a
|
UTSW |
12 |
55,021,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Baz1a
|
UTSW |
12 |
54,945,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Baz1a
|
UTSW |
12 |
54,941,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Baz1a
|
UTSW |
12 |
54,969,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5678:Baz1a
|
UTSW |
12 |
54,947,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R5810:Baz1a
|
UTSW |
12 |
54,974,500 (GRCm39) |
intron |
probably benign |
|
R6092:Baz1a
|
UTSW |
12 |
54,955,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6317:Baz1a
|
UTSW |
12 |
55,001,585 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6332:Baz1a
|
UTSW |
12 |
54,965,339 (GRCm39) |
missense |
probably benign |
0.01 |
R6803:Baz1a
|
UTSW |
12 |
54,988,340 (GRCm39) |
missense |
probably null |
0.99 |
R7185:Baz1a
|
UTSW |
12 |
55,022,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Baz1a
|
UTSW |
12 |
54,947,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Baz1a
|
UTSW |
12 |
54,945,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R8009:Baz1a
|
UTSW |
12 |
54,941,816 (GRCm39) |
nonsense |
probably null |
|
R8025:Baz1a
|
UTSW |
12 |
54,955,921 (GRCm39) |
missense |
probably benign |
0.34 |
R8392:Baz1a
|
UTSW |
12 |
54,969,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Baz1a
|
UTSW |
12 |
55,032,624 (GRCm39) |
unclassified |
probably benign |
|
R8949:Baz1a
|
UTSW |
12 |
54,941,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R9340:Baz1a
|
UTSW |
12 |
54,963,372 (GRCm39) |
missense |
probably damaging |
0.97 |
R9389:Baz1a
|
UTSW |
12 |
54,963,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R9401:Baz1a
|
UTSW |
12 |
54,963,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Baz1a
|
UTSW |
12 |
54,988,345 (GRCm39) |
missense |
probably benign |
0.18 |
R9722:Baz1a
|
UTSW |
12 |
54,946,882 (GRCm39) |
missense |
probably benign |
0.43 |
R9746:Baz1a
|
UTSW |
12 |
55,021,895 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAAAACAAACAAACCCAACCCC -3'
(R):5'- ACACACATTCATAGACCATACACACCCAA -3'
Sequencing Primer
(F):5'- tccatcctcctgtctctacc -3'
(R):5'- ccagcacccaaatggcag -3'
|
Posted On |
2013-10-16 |