Incidental Mutation 'R9666:Baz1a'
ID |
735733 |
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 # |
R9666 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54988345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 268
(I268T)
|
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: I268T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: I268T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173433
AA Change: I268T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: I268T
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 |
|
Meta Mutation Damage Score |
0.0844 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
C |
A |
12: 118,838,422 (GRCm39) |
V1047L |
probably damaging |
Het |
Akap6 |
G |
A |
12: 53,188,318 (GRCm39) |
A1911T |
probably benign |
Het |
Ank2 |
T |
A |
3: 126,726,838 (GRCm39) |
K819* |
probably null |
Het |
Apc2 |
A |
G |
10: 80,147,183 (GRCm39) |
R746G |
possibly damaging |
Het |
Bysl |
A |
G |
17: 47,914,865 (GRCm39) |
I206T |
probably benign |
Het |
Ccdc70 |
A |
C |
8: 22,463,357 (GRCm39) |
E49A |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,955,976 (GRCm39) |
H525L |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,496,670 (GRCm39) |
E442G |
unknown |
Het |
Cpd |
G |
A |
11: 76,693,133 (GRCm39) |
P718S |
probably benign |
Het |
Dip2b |
T |
A |
15: 100,107,461 (GRCm39) |
I1391N |
probably damaging |
Het |
Dpp9 |
T |
C |
17: 56,501,946 (GRCm39) |
T541A |
probably damaging |
Het |
Dst |
C |
T |
1: 34,218,947 (GRCm39) |
Q1796* |
probably null |
Het |
Gm10267 |
T |
C |
18: 44,291,397 (GRCm39) |
I25V |
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,061,441 (GRCm39) |
R744Q |
probably benign |
Het |
Gm37240 |
T |
C |
3: 84,422,952 (GRCm39) |
Y139C |
probably damaging |
Het |
Gm39115 |
A |
G |
7: 141,689,255 (GRCm39) |
C173R |
unknown |
Het |
Grm6 |
T |
G |
11: 50,750,877 (GRCm39) |
V680G |
probably damaging |
Het |
Grxcr2 |
C |
T |
18: 42,131,956 (GRCm39) |
D38N |
probably damaging |
Het |
Iah1 |
G |
A |
12: 21,366,587 (GRCm39) |
R52H |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,131,920 (GRCm39) |
Y36C |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,945,588 (GRCm39) |
I334V |
probably benign |
Het |
Igfn1 |
T |
A |
1: 135,897,692 (GRCm39) |
Q958L |
possibly damaging |
Het |
Il4i1 |
G |
A |
7: 44,489,263 (GRCm39) |
A343T |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,748,217 (GRCm39) |
I1128V |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,111,588 (GRCm39) |
G7V |
probably damaging |
Het |
Krr1 |
A |
G |
10: 111,818,896 (GRCm39) |
R312G |
possibly damaging |
Het |
Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
Lpin2 |
A |
T |
17: 71,529,065 (GRCm39) |
N108Y |
probably damaging |
Het |
Man2a1 |
A |
T |
17: 64,943,557 (GRCm39) |
E204V |
possibly damaging |
Het |
Megf8 |
A |
G |
7: 25,030,166 (GRCm39) |
T434A |
possibly damaging |
Het |
Minar1 |
A |
T |
9: 89,484,072 (GRCm39) |
S442T |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,567,285 (GRCm39) |
T1745A |
unknown |
Het |
Mycbp2 |
G |
T |
14: 103,371,474 (GRCm39) |
P4135T |
probably damaging |
Het |
Nuggc |
T |
C |
14: 65,857,045 (GRCm39) |
V398A |
possibly damaging |
Het |
Or1e22 |
A |
G |
11: 73,376,885 (GRCm39) |
I255T |
probably damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,976 (GRCm39) |
M59K |
probably damaging |
Het |
Or5w11 |
C |
T |
2: 87,459,152 (GRCm39) |
A115V |
possibly damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,099 (GRCm39) |
S323T |
probably benign |
Het |
Or6e1 |
G |
T |
14: 54,520,342 (GRCm39) |
N3K |
probably damaging |
Het |
Or6f1 |
A |
G |
7: 85,970,444 (GRCm39) |
S239P |
probably damaging |
Het |
Parg |
A |
G |
14: 31,964,294 (GRCm39) |
N653S |
probably damaging |
Het |
Plek |
A |
G |
11: 16,945,346 (GRCm39) |
F18L |
probably benign |
Het |
Pnoc |
A |
G |
14: 65,639,247 (GRCm39) |
I206T |
possibly damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,049,129 (GRCm39) |
M1V |
probably null |
Het |
Pramel21 |
A |
G |
4: 143,341,699 (GRCm39) |
T43A |
probably benign |
Het |
Psg22 |
T |
C |
7: 18,458,248 (GRCm39) |
V313A |
probably benign |
Het |
Ptk2b |
G |
T |
14: 66,409,546 (GRCm39) |
P497T |
probably damaging |
Het |
Rer1 |
A |
G |
4: 155,160,044 (GRCm39) |
|
probably null |
Het |
Rnf130 |
A |
G |
11: 49,986,618 (GRCm39) |
T321A |
probably benign |
Het |
Rnf207 |
A |
T |
4: 152,397,717 (GRCm39) |
F346I |
probably damaging |
Het |
Rraga |
T |
A |
4: 86,494,574 (GRCm39) |
I140N |
possibly damaging |
Het |
Rusc2 |
A |
T |
4: 43,416,262 (GRCm39) |
M523L |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,792,622 (GRCm39) |
V495D |
probably benign |
Het |
Slc44a5 |
T |
C |
3: 153,945,926 (GRCm39) |
L153P |
probably benign |
Het |
Spag16 |
T |
C |
1: 70,764,072 (GRCm39) |
S631P |
probably damaging |
Het |
Syne1 |
A |
C |
10: 4,984,937 (GRCm39) |
L747R |
probably damaging |
Het |
Tac1 |
A |
G |
6: 7,555,675 (GRCm39) |
E21G |
probably benign |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,542,957 (GRCm39) |
D1344G |
probably damaging |
Het |
Tnc |
C |
T |
4: 63,926,045 (GRCm39) |
E912K |
probably damaging |
Het |
Trav16d-dv11 |
A |
G |
14: 53,285,037 (GRCm39) |
T38A |
probably benign |
Het |
Trbv15 |
T |
A |
6: 41,118,364 (GRCm39) |
L40Q |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,973,455 (GRCm39) |
I288V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,604,941 (GRCm39) |
I18331N |
probably damaging |
Het |
Tubgcp2 |
A |
T |
7: 139,587,836 (GRCm39) |
I263N |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,023,870 (GRCm39) |
T904A |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,323 (GRCm39) |
T106M |
probably damaging |
Het |
Zfp617 |
A |
G |
8: 72,686,539 (GRCm39) |
T290A |
probably benign |
Het |
Zfp809 |
T |
C |
9: 22,149,863 (GRCm39) |
V120A |
probably benign |
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 |
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'- TTAATGCTGAGCAGTATCAAGCG -3'
(R):5'- GGCTTAGTCTTTAACAGCAGC -3'
Sequencing Primer
(F):5'- GCGAGCACACACTCAAGTTTTC -3'
(R):5'- GTCTTTAACAGCAGCAATAGTGGCC -3'
|
Posted On |
2022-11-14 |