Incidental Mutation 'R8025:Baz1a'
ID |
617664 |
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 |
067464-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8025 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54955921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1056
(I1056N)
|
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: I1056N
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: I1056N
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: I1053N
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: I1053N
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
T |
G |
3: 79,536,635 (GRCm39) |
L51R |
probably damaging |
Het |
Actl7b |
T |
C |
4: 56,741,137 (GRCm39) |
T74A |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,346 (GRCm39) |
A207S |
probably benign |
Het |
AL732309.1 |
A |
G |
2: 25,136,331 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
G |
T |
18: 63,069,979 (GRCm39) |
C82F |
probably damaging |
Het |
Arhgap42 |
T |
G |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
Bzw2 |
T |
C |
12: 36,157,517 (GRCm39) |
E316G |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,216,505 (GRCm39) |
I559N |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,649 (GRCm39) |
V222E |
probably damaging |
Het |
Cngb3 |
A |
T |
4: 19,280,960 (GRCm39) |
N10Y |
possibly damaging |
Het |
Dennd1b |
A |
G |
1: 139,038,158 (GRCm39) |
K267E |
|
Het |
Dhx32 |
A |
G |
7: 133,323,100 (GRCm39) |
Y705H |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,496,456 (GRCm39) |
V114I |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,960,311 (GRCm39) |
C2229* |
probably null |
Het |
Dync2i2 |
T |
C |
2: 29,938,730 (GRCm39) |
Q51R |
probably benign |
Het |
Gm14401 |
T |
C |
2: 176,778,249 (GRCm39) |
F112L |
probably damaging |
Het |
Gm57858 |
C |
A |
3: 36,073,136 (GRCm39) |
R382L |
probably damaging |
Het |
Habp4 |
G |
A |
13: 64,322,645 (GRCm39) |
R238H |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,119,149 (GRCm39) |
Y301C |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,245,833 (GRCm39) |
A641T |
probably benign |
Het |
Kcns3 |
A |
T |
12: 11,141,846 (GRCm39) |
N284K |
probably damaging |
Het |
Mcrs1 |
G |
A |
15: 99,144,814 (GRCm39) |
Q267* |
probably null |
Het |
Midn |
G |
A |
10: 79,991,126 (GRCm39) |
A379T |
probably benign |
Het |
Muc21 |
GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
17: 35,931,879 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,127,224 (GRCm39) |
N996K |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,930 (GRCm39) |
M136V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,779,777 (GRCm39) |
|
probably null |
Het |
Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
Or5m11 |
A |
T |
2: 85,781,856 (GRCm39) |
I150F |
probably benign |
Het |
Or7e175 |
T |
C |
9: 20,048,928 (GRCm39) |
V172A |
probably benign |
Het |
Parpbp |
T |
C |
10: 87,928,970 (GRCm39) |
D490G |
probably benign |
Het |
Pcbp2 |
T |
A |
15: 102,396,711 (GRCm39) |
S262R |
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,953,992 (GRCm39) |
I422T |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,538,415 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
G |
A |
6: 89,308,254 (GRCm39) |
R1278W |
probably damaging |
Het |
Polr1c |
A |
G |
17: 46,555,974 (GRCm39) |
L162P |
probably damaging |
Het |
Rasl2-9 |
A |
G |
7: 5,128,481 (GRCm39) |
S150P |
probably damaging |
Het |
Raver2 |
C |
A |
4: 100,960,162 (GRCm39) |
S214* |
probably null |
Het |
Rbpjl |
C |
A |
2: 164,252,166 (GRCm39) |
|
probably benign |
Het |
Rec114 |
T |
G |
9: 58,567,605 (GRCm39) |
E127A |
possibly damaging |
Het |
Recql5 |
C |
A |
11: 115,818,938 (GRCm39) |
L209F |
probably damaging |
Het |
Rgs11 |
T |
C |
17: 26,423,359 (GRCm39) |
|
probably null |
Het |
Rgs3 |
C |
A |
4: 62,608,831 (GRCm39) |
H366N |
probably damaging |
Het |
Rnf148 |
C |
T |
6: 23,654,196 (GRCm39) |
D267N |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,148,557 (GRCm39) |
N1007S |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,393,022 (GRCm39) |
T220A |
probably benign |
Het |
Sema5a |
A |
G |
15: 32,548,928 (GRCm39) |
N134S |
probably benign |
Het |
Smg1 |
G |
A |
7: 117,806,212 (GRCm39) |
Q210* |
probably null |
Het |
Snx7 |
A |
G |
3: 117,626,526 (GRCm39) |
V328A |
probably benign |
Het |
Sult1c2 |
A |
T |
17: 54,138,837 (GRCm39) |
S247T |
probably benign |
Het |
Tceanc2 |
C |
T |
4: 106,996,997 (GRCm39) |
|
probably null |
Het |
Tead3 |
T |
C |
17: 28,554,009 (GRCm39) |
D141G |
probably benign |
Het |
Tlcd5 |
T |
A |
9: 43,022,848 (GRCm39) |
T169S |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,546,270 (GRCm39) |
M692T |
probably damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,084 (GRCm39) |
F13L |
probably benign |
Het |
Vmn2r3 |
A |
G |
3: 64,182,871 (GRCm39) |
V276A |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,076,183 (GRCm39) |
I443T |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,696,738 (GRCm39) |
N305S |
possibly damaging |
Het |
Vps33b |
A |
T |
7: 79,940,094 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,050,781 (GRCm39) |
M91K |
probably benign |
Het |
Xylb |
T |
C |
9: 119,210,569 (GRCm39) |
F351L |
probably damaging |
Het |
Zan |
C |
T |
5: 137,404,614 (GRCm39) |
D3883N |
unknown |
Het |
Zfp82 |
T |
A |
7: 29,756,278 (GRCm39) |
H268L |
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 |
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 |
|
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'- TCCCGTTATTTAAAATCCAACTGGC -3'
(R):5'- GACCTGTCTCAAGGTGGAAG -3'
Sequencing Primer
(F):5'- CCAACTGGCATTTTGAAATGAGAAG -3'
(R):5'- CTGAGGTTGTGTCATGAACATAC -3'
|
Posted On |
2020-01-23 |