Incidental Mutation 'R0614:Baz1a'
ID |
54966 |
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 |
038803-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 54988304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 282
(R282*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038926
AA Change: R282*
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: R282*
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 null
Transcript: ENSMUST00000173176
AA Change: R65*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173433
AA Change: R282*
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: R282*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (61/63) |
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 |
2210408I21Rik |
C |
T |
13: 77,340,782 (GRCm39) |
T137I |
probably benign |
Het |
3110082I17Rik |
C |
T |
5: 139,349,786 (GRCm39) |
V88I |
possibly damaging |
Het |
4930453N24Rik |
T |
A |
16: 64,586,977 (GRCm39) |
Q249L |
probably damaging |
Het |
Ap1g2 |
C |
T |
14: 55,337,230 (GRCm39) |
V702I |
probably benign |
Het |
Armcx5 |
G |
A |
X: 134,647,564 (GRCm39) |
E547K |
probably damaging |
Het |
Asah2 |
C |
A |
19: 31,994,128 (GRCm39) |
V406L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,666,658 (GRCm39) |
|
probably benign |
Het |
Axl |
C |
A |
7: 25,473,588 (GRCm39) |
R346L |
probably benign |
Het |
Card14 |
A |
G |
11: 119,213,653 (GRCm39) |
N200S |
probably benign |
Het |
Cdt1 |
A |
G |
8: 123,294,876 (GRCm39) |
T28A |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,812,017 (GRCm39) |
Q438* |
probably null |
Het |
Dapk1 |
C |
A |
13: 60,865,946 (GRCm39) |
P181Q |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,961,394 (GRCm39) |
|
probably benign |
Het |
Dph7 |
T |
C |
2: 24,858,968 (GRCm39) |
|
probably null |
Het |
Edc4 |
A |
T |
8: 106,616,028 (GRCm39) |
D801V |
possibly damaging |
Het |
Eif4g2 |
A |
G |
7: 110,676,430 (GRCm39) |
|
probably null |
Het |
Eml2 |
T |
C |
7: 18,936,516 (GRCm39) |
L531P |
probably damaging |
Het |
Ephb2 |
T |
C |
4: 136,400,676 (GRCm39) |
Y533C |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,877 (GRCm39) |
K1399E |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,782,987 (GRCm39) |
D446G |
probably damaging |
Het |
Hif1a |
T |
A |
12: 73,992,405 (GRCm39) |
N787K |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,871,715 (GRCm39) |
S18P |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,814,040 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
A |
11: 115,741,093 (GRCm39) |
D502E |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,152,354 (GRCm39) |
V570A |
probably damaging |
Het |
Mga |
C |
G |
2: 119,794,947 (GRCm39) |
P2877R |
probably damaging |
Het |
Mvd |
T |
C |
8: 123,163,292 (GRCm39) |
I313V |
probably benign |
Het |
Myo15b |
C |
A |
11: 115,773,739 (GRCm39) |
P270T |
probably damaging |
Het |
Naip1 |
C |
A |
13: 100,580,708 (GRCm39) |
V180L |
probably benign |
Het |
Ofd1 |
T |
C |
X: 165,218,536 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,676,705 (GRCm39) |
L56H |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,170,329 (GRCm39) |
I106F |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,929 (GRCm39) |
M59K |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,634,216 (GRCm39) |
P1420S |
probably benign |
Het |
Pakap |
C |
A |
4: 57,856,720 (GRCm39) |
A926E |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,256,150 (GRCm39) |
V697M |
probably damaging |
Het |
Plekha7 |
A |
T |
7: 115,753,880 (GRCm39) |
Y702* |
probably null |
Het |
Plxnb3 |
A |
G |
X: 72,807,964 (GRCm39) |
|
probably benign |
Het |
Ptgis |
A |
G |
2: 167,048,802 (GRCm39) |
F405L |
probably damaging |
Het |
Ptprk |
C |
T |
10: 27,951,132 (GRCm39) |
P19L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,654,040 (GRCm39) |
V530A |
possibly damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,845,276 (GRCm39) |
Y299F |
probably damaging |
Het |
Slc39a11 |
T |
A |
11: 113,414,452 (GRCm39) |
|
probably null |
Het |
Slc6a15 |
T |
A |
10: 103,240,213 (GRCm39) |
L312* |
probably null |
Het |
Slf1 |
T |
A |
13: 77,197,233 (GRCm39) |
M794L |
probably benign |
Het |
Sntg2 |
G |
A |
12: 30,307,977 (GRCm39) |
T236I |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,792,726 (GRCm39) |
Y413C |
probably damaging |
Het |
Syne2 |
T |
G |
12: 75,959,127 (GRCm39) |
|
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,662,165 (GRCm39) |
N181K |
probably damaging |
Het |
Tmem81 |
G |
A |
1: 132,435,469 (GRCm39) |
V92I |
probably benign |
Het |
Trap1 |
A |
G |
16: 3,878,615 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
C |
1: 84,735,482 (GRCm39) |
E905G |
probably damaging |
Het |
Usp2 |
C |
T |
9: 44,003,789 (GRCm39) |
R494* |
probably null |
Het |
Vps13a |
G |
T |
19: 16,630,058 (GRCm39) |
R2692S |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,675,171 (GRCm39) |
S2074P |
probably benign |
Het |
Zfhx3 |
C |
G |
8: 109,675,599 (GRCm39) |
Y2216* |
probably null |
Het |
Zfp423 |
A |
G |
8: 88,508,742 (GRCm39) |
F409S |
probably damaging |
Het |
Zfp472 |
G |
A |
17: 33,196,908 (GRCm39) |
E328K |
possibly damaging |
Het |
Zfp619 |
T |
A |
7: 39,187,099 (GRCm39) |
M1043K |
possibly damaging |
Het |
Zfp940 |
T |
C |
7: 29,545,671 (GRCm39) |
I79V |
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 |
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 |
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'- CTGTCTCCAGAGAACATGAATCCACG -3'
(R):5'- GTGTTTGGCTTAGTCTTTAACAGCAGC -3'
Sequencing Primer
(F):5'- CTTAATGCTGAGCAGTATCAAGC -3'
(R):5'- GTCTTTAACAGCAGCAATAGTGGC -3'
|
Posted On |
2013-07-11 |