Incidental Mutation 'R4050:Baz1a'
| ID |
314122 |
| 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 |
040968-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54976404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 424
(V424A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
| AlphaFold |
O88379 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038926
AA Change: V424A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: V424A
| 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 benign
Transcript: ENSMUST00000173433
AA Change: V424A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: V424A
| 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 |
unknown
Transcript: ENSMUST00000174225
AA Change: V45A
|
| SMART Domains |
Protein: ENSMUSP00000133324
Gene: ENSMUSG00000035021
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDT
|
45 |
78 |
8.8e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,029,449 (GRCm39) |
D473G |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,044,144 (GRCm39) |
Q1826L |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,065,390 (GRCm39) |
V4087I |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,150,363 (GRCm39) |
A1354T |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,200,819 (GRCm39) |
D180N |
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,171 (GRCm39) |
D1053G |
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,448,863 (GRCm39) |
M246K |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,114,441 (GRCm39) |
T1013M |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,445,769 (GRCm39) |
T265N |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,410 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Gbp8 |
T |
A |
5: 105,179,104 (GRCm39) |
I132F |
probably damaging |
Het |
| Gga1 |
A |
G |
15: 78,775,691 (GRCm39) |
D382G |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,378 (GRCm39) |
|
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,342 (GRCm39) |
L188Q |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,646,599 (GRCm39) |
S95G |
probably damaging |
Het |
| Hnf1a |
T |
A |
5: 115,108,633 (GRCm39) |
N91Y |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,280,003 (GRCm39) |
S710F |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,834,215 (GRCm39) |
E614K |
unknown |
Het |
| Kif26a |
T |
A |
12: 112,146,350 (GRCm39) |
M1812K |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,139,713 (GRCm39) |
K488* |
probably null |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,533,983 (GRCm39) |
T645A |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,185,903 (GRCm39) |
|
probably null |
Het |
| Mycl |
A |
T |
4: 122,890,632 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
G |
A |
4: 46,147,483 (GRCm39) |
R110H |
probably damaging |
Het |
| Nfasc |
G |
T |
1: 132,538,043 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
A |
G |
2: 80,486,320 (GRCm39) |
I212V |
probably benign |
Het |
| Or2y8 |
T |
G |
11: 52,035,961 (GRCm39) |
Y132S |
probably damaging |
Het |
| Or4p20 |
A |
G |
2: 88,253,967 (GRCm39) |
M134T |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,420,311 (GRCm39) |
S181N |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,400 (GRCm39) |
T617I |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,913,182 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Pramel24 |
T |
C |
4: 143,453,692 (GRCm39) |
S267P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,169,542 (GRCm39) |
K220R |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,004,840 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,014,697 (GRCm39) |
A1005V |
probably benign |
Het |
| Samd15 |
T |
G |
12: 87,247,406 (GRCm39) |
N30K |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,911,294 (GRCm39) |
K905* |
probably null |
Het |
| Scrib |
G |
A |
15: 75,923,322 (GRCm39) |
R1245W |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 111,981,811 (GRCm39) |
S260L |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,079,481 (GRCm39) |
M339L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,164 (GRCm39) |
R75G |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,907,927 (GRCm39) |
D463G |
possibly damaging |
Het |
| Taf4 |
C |
A |
2: 179,573,805 (GRCm39) |
G688C |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,623,507 (GRCm39) |
S2148P |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,856,000 (GRCm39) |
V600E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,651,510 (GRCm39) |
V10953A |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,178,691 (GRCm39) |
Y333C |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,181,415 (GRCm39) |
S311P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,327,000 (GRCm39) |
M1R |
probably null |
Het |
| Zfp26 |
G |
A |
9: 20,353,525 (GRCm39) |
P88L |
probably benign |
Het |
| Zfp324 |
T |
C |
7: 12,704,794 (GRCm39) |
F328L |
probably 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 |
|
R0826:Baz1a
|
UTSW |
12 |
54,977,097 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GTACCCACCTACTTTCATGGAAC -3'
(R):5'- GAAACCATAACTGCTGTGTGC -3'
Sequencing Primer
(F):5'- GAATGCTTCCTTAACATGGCCTGTAG -3'
(R):5'- GCTGTGTGCATTTAGCTTTATTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation