Incidental Mutation 'R9340:Baz1a'
ID |
707461 |
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 # |
R9340 (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 54963372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 907
(I907T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038926
AA Change: I907T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: I907T
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 damaging
Transcript: ENSMUST00000173433
AA Change: I904T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: I904T
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 61,001,647 (GRCm39) |
M58L |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,840,939 (GRCm39) |
V1078A |
probably benign |
Het |
Acvr2b |
A |
G |
9: 119,257,492 (GRCm39) |
D175G |
probably damaging |
Het |
Adad2 |
A |
G |
8: 120,339,769 (GRCm39) |
M84V |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
Ahsa1 |
T |
C |
12: 87,315,053 (GRCm39) |
S69P |
probably damaging |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Antxr2 |
G |
T |
5: 98,086,306 (GRCm39) |
P434T |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,037,382 (GRCm39) |
Y470H |
probably damaging |
Het |
Baz1b |
A |
T |
5: 135,246,729 (GRCm39) |
Q726L |
probably benign |
Het |
Bcar3 |
C |
T |
3: 122,298,462 (GRCm39) |
|
probably benign |
Het |
Bean1 |
C |
T |
8: 104,908,739 (GRCm39) |
R39C |
probably damaging |
Het |
Cass4 |
A |
T |
2: 172,268,686 (GRCm39) |
N256I |
possibly damaging |
Het |
Cnot10 |
T |
C |
9: 114,460,897 (GRCm39) |
K91R |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,651,757 (GRCm39) |
V1085M |
probably damaging |
Het |
Dpf3 |
A |
G |
12: 83,534,449 (GRCm39) |
|
probably null |
Het |
Dync1i2 |
T |
A |
2: 71,093,019 (GRCm39) |
W605R |
probably damaging |
Het |
Exoc5 |
A |
T |
14: 49,286,297 (GRCm39) |
V110E |
probably damaging |
Het |
Fgfr2 |
T |
A |
7: 129,782,136 (GRCm39) |
H563L |
probably damaging |
Het |
Fosl2 |
A |
G |
5: 32,304,379 (GRCm39) |
T105A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,818,604 (GRCm39) |
H4779R |
possibly damaging |
Het |
Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,770,161 (GRCm39) |
E318K |
probably damaging |
Het |
Hc |
G |
A |
2: 34,876,294 (GRCm39) |
T1584I |
probably damaging |
Het |
Helb |
T |
C |
10: 119,928,556 (GRCm39) |
K762E |
probably damaging |
Het |
Hspg2 |
T |
G |
4: 137,296,827 (GRCm39) |
L4335R |
probably damaging |
Het |
Ift88 |
A |
C |
14: 57,718,920 (GRCm39) |
Q635P |
probably damaging |
Het |
Inpp5a |
C |
A |
7: 138,969,380 (GRCm39) |
D25E |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,376,786 (GRCm39) |
T387A |
possibly damaging |
Het |
Lamb1 |
G |
A |
12: 31,374,223 (GRCm39) |
D1529N |
probably benign |
Het |
Lamb1 |
A |
T |
12: 31,374,224 (GRCm39) |
D1529V |
probably benign |
Het |
Lnx1 |
T |
C |
5: 74,758,584 (GRCm39) |
N476S |
probably benign |
Het |
Mup17 |
T |
C |
4: 61,512,633 (GRCm39) |
M87V |
probably benign |
Het |
Naip6 |
G |
A |
13: 100,452,494 (GRCm39) |
T189I |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,447,629 (GRCm39) |
Y462N |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,664,881 (GRCm39) |
D270G |
probably benign |
Het |
Obox2 |
T |
C |
7: 15,130,789 (GRCm39) |
L7S |
probably damaging |
Het |
Obox6 |
A |
T |
7: 15,567,722 (GRCm39) |
S242T |
possibly damaging |
Het |
Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
Pigyl |
C |
T |
9: 22,069,130 (GRCm39) |
|
probably benign |
Het |
Rasa1 |
A |
G |
13: 85,369,649 (GRCm39) |
V891A |
probably damaging |
Het |
Rxrg |
A |
G |
1: 167,458,890 (GRCm39) |
D292G |
possibly damaging |
Het |
Saal1 |
A |
G |
7: 46,351,248 (GRCm39) |
F243L |
probably benign |
Het |
Sec24c |
G |
A |
14: 20,729,598 (GRCm39) |
V59M |
probably benign |
Het |
Sema4f |
C |
A |
6: 82,890,890 (GRCm39) |
G639V |
probably damaging |
Het |
Serpinb1c |
A |
T |
13: 33,066,172 (GRCm39) |
C258S |
probably benign |
Het |
Snx21 |
CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG |
CACCTGCAGG |
2: 164,633,849 (GRCm39) |
|
probably benign |
Het |
Syndig1 |
T |
C |
2: 149,845,175 (GRCm39) |
S233P |
probably damaging |
Het |
Taf6l |
A |
T |
19: 8,752,636 (GRCm39) |
L377M |
probably damaging |
Het |
Tcl1 |
T |
C |
12: 105,184,979 (GRCm39) |
Y77C |
probably damaging |
Het |
Tekt2 |
C |
A |
4: 126,216,952 (GRCm39) |
M272I |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,100,460 (GRCm39) |
E98G |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,182,763 (GRCm39) |
I383N |
unknown |
Het |
Wdr89 |
G |
T |
12: 75,679,937 (GRCm39) |
P106T |
probably benign |
Het |
Zfp534 |
T |
C |
4: 147,758,698 (GRCm39) |
E657G |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,013 (GRCm39) |
K434R |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,321,680 (GRCm39) |
K980* |
probably null |
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 |
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'- TTTGCAAACTAAGAACAGGTCAGG -3'
(R):5'- ATGTTGCTGCCTAGGCCTTC -3'
Sequencing Primer
(F):5'- TCCAGGAATTGTGGCACATC -3'
(R):5'- GGCCTTCATCATTTCACAATAACG -3'
|
Posted On |
2022-04-18 |