Incidental Mutation 'R9722:Baz1a'
ID |
730873 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9722 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54946882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 1228
(D1228N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038926
AA Change: D1228N
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: D1228N
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 |
possibly damaging
Transcript: ENSMUST00000173433
AA Change: D1225N
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: D1225N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,094,269 (GRCm39) |
I52F |
probably benign |
Het |
Abcc3 |
A |
T |
11: 94,250,072 (GRCm39) |
L1017Q |
probably damaging |
Het |
Antxr2 |
T |
C |
5: 98,096,186 (GRCm39) |
D366G |
possibly damaging |
Het |
Astn2 |
C |
T |
4: 65,831,978 (GRCm39) |
V563I |
probably benign |
Het |
Atrn |
C |
A |
2: 130,803,536 (GRCm39) |
D575E |
probably damaging |
Het |
Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
Ccnt2 |
T |
A |
1: 127,729,925 (GRCm39) |
D267E |
probably damaging |
Het |
Cd209c |
G |
T |
8: 3,995,905 (GRCm39) |
R2S |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,261,301 (GRCm39) |
Y2523C |
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,323,892 (GRCm39) |
P990L |
probably benign |
Het |
Dnajc9 |
T |
C |
14: 20,438,279 (GRCm39) |
I108V |
probably benign |
Het |
Eif2d |
T |
C |
1: 131,092,948 (GRCm39) |
|
probably null |
Het |
Ephb2 |
T |
C |
4: 136,384,768 (GRCm39) |
D881G |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,951,215 (GRCm39) |
N531S |
probably benign |
Het |
Fbxo2 |
G |
A |
4: 148,248,883 (GRCm39) |
R125H |
probably damaging |
Het |
Foxred1 |
C |
T |
9: 35,117,300 (GRCm39) |
S277N |
possibly damaging |
Het |
Gemin5 |
T |
C |
11: 58,041,418 (GRCm39) |
E518G |
probably damaging |
Het |
Gm17655 |
A |
G |
5: 110,194,226 (GRCm39) |
Y519H |
probably benign |
Het |
Igkv4-57-1 |
A |
T |
6: 69,521,493 (GRCm39) |
W70R |
probably damaging |
Het |
Krtap4-13 |
A |
G |
11: 99,700,180 (GRCm39) |
S160P |
unknown |
Het |
Map3k3 |
A |
G |
11: 106,033,361 (GRCm39) |
I205V |
possibly damaging |
Het |
Map3k4 |
A |
C |
17: 12,490,523 (GRCm39) |
F303V |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,304,504 (GRCm39) |
Q132R |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,801,227 (GRCm39) |
V1472E |
probably damaging |
Het |
Nckap1 |
G |
A |
2: 80,401,568 (GRCm39) |
Q39* |
probably null |
Het |
Nog |
A |
G |
11: 89,192,396 (GRCm39) |
S151P |
probably damaging |
Het |
Obox6 |
G |
A |
7: 15,568,831 (GRCm39) |
S15F |
probably benign |
Het |
Odf2 |
A |
G |
2: 29,813,594 (GRCm39) |
H647R |
possibly damaging |
Het |
Or6c74 |
A |
G |
10: 129,869,500 (GRCm39) |
R2G |
probably benign |
Het |
Pcdhga11 |
T |
C |
18: 37,890,398 (GRCm39) |
S469P |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pglyrp3 |
A |
G |
3: 91,938,695 (GRCm39) |
K290R |
possibly damaging |
Het |
Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,225,497 (GRCm39) |
L530R |
|
Het |
Pigg |
A |
T |
5: 108,495,767 (GRCm39) |
I935F |
possibly damaging |
Het |
Pofut2 |
T |
C |
10: 77,102,759 (GRCm39) |
S282P |
possibly damaging |
Het |
Ppfia1 |
A |
G |
7: 144,071,402 (GRCm39) |
S337P |
probably benign |
Het |
Sdr16c5 |
A |
T |
4: 4,005,595 (GRCm39) |
D246E |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,428,207 (GRCm39) |
H327L |
possibly damaging |
Het |
Slc39a4 |
A |
G |
15: 76,500,211 (GRCm39) |
I113T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,603,985 (GRCm39) |
|
probably null |
Het |
Snx11 |
A |
G |
11: 96,661,925 (GRCm39) |
S86P |
probably benign |
Het |
Srm |
T |
A |
4: 148,676,245 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
C |
6: 42,412,082 (GRCm39) |
I205T |
possibly damaging |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,753,849 (GRCm39) |
S851R |
probably benign |
Het |
Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,733,476 (GRCm39) |
|
probably null |
Het |
Trim33 |
C |
A |
3: 103,261,146 (GRCm39) |
T1115K |
possibly damaging |
Het |
Tspan13 |
T |
A |
12: 36,074,017 (GRCm39) |
I40F |
probably damaging |
Het |
Ube2v2 |
T |
C |
16: 15,394,899 (GRCm39) |
I91V |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,631 (GRCm39) |
F115L |
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,598,407 (GRCm39) |
P717S |
probably damaging |
Het |
Zan |
T |
C |
5: 137,387,324 (GRCm39) |
T4910A |
unknown |
Het |
Zfp599 |
T |
A |
9: 22,160,741 (GRCm39) |
T475S |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,923,301 (GRCm39) |
F700I |
probably damaging |
Het |
Zfp985 |
A |
C |
4: 147,667,618 (GRCm39) |
K162T |
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 |
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 |
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 |
R9746:Baz1a
|
UTSW |
12 |
55,021,895 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACTCAGCTCTTCTTGTGGGTC -3'
(R):5'- CCGACCAAAGCTCAAGGTATTTTC -3'
Sequencing Primer
(F):5'- TGGGTCTGAAGGGTCACAGAC -3'
(R):5'- CTGTTGGGCACATTGACATTAAG -3'
|
Posted On |
2022-10-06 |