Incidental Mutation 'R6092:Baz1a'
ID |
486001 |
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 |
044249-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6092 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54955868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1074
(V1074M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038926
AA Change: V1074M
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: V1074M
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: V1071M
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: V1071M
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (61/62) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,701 (GRCm39) |
P1297S |
probably benign |
Het |
4930486L24Rik |
C |
T |
13: 61,001,461 (GRCm39) |
V89M |
probably benign |
Het |
Abhd16a |
T |
C |
17: 35,317,786 (GRCm39) |
|
probably null |
Het |
Abtb1 |
A |
C |
6: 88,815,433 (GRCm39) |
C264G |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arid1a |
C |
T |
4: 133,421,163 (GRCm39) |
G881R |
unknown |
Het |
Asb8 |
A |
G |
15: 98,034,123 (GRCm39) |
V144A |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,435,714 (GRCm39) |
C199G |
probably damaging |
Het |
Atxn1 |
C |
A |
13: 45,720,288 (GRCm39) |
V536L |
probably benign |
Het |
BC034090 |
T |
A |
1: 155,100,659 (GRCm39) |
D535V |
probably damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm39) |
H145N |
probably damaging |
Het |
Ccdc24 |
T |
A |
4: 117,729,645 (GRCm39) |
K25* |
probably null |
Het |
Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 110,026,036 (GRCm39) |
Y424F |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,438,028 (GRCm39) |
S612P |
probably damaging |
Het |
Cxcl14 |
T |
C |
13: 56,443,646 (GRCm39) |
M55V |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,892,191 (GRCm39) |
T3661A |
probably benign |
Het |
Dnah14 |
T |
A |
1: 181,449,398 (GRCm39) |
D574E |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,091,680 (GRCm39) |
V2204M |
possibly damaging |
Het |
Ercc4 |
A |
T |
16: 12,943,125 (GRCm39) |
H178L |
probably benign |
Het |
Far2 |
T |
C |
6: 148,076,581 (GRCm39) |
F475L |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,359,959 (GRCm39) |
|
probably null |
Het |
Gm4131 |
T |
A |
14: 62,718,364 (GRCm39) |
T81S |
possibly damaging |
Het |
Gprc6a |
A |
G |
10: 51,491,173 (GRCm39) |
S788P |
probably damaging |
Het |
Hmgxb3 |
C |
A |
18: 61,270,672 (GRCm39) |
G884V |
possibly damaging |
Het |
Homer1 |
T |
A |
13: 93,502,945 (GRCm39) |
|
probably benign |
Het |
Iars1 |
T |
C |
13: 49,861,897 (GRCm39) |
S483P |
probably damaging |
Het |
Kansl1l |
C |
G |
1: 66,812,643 (GRCm39) |
E457Q |
probably damaging |
Het |
Krtap4-9 |
G |
A |
11: 99,676,481 (GRCm39) |
|
probably benign |
Het |
Lepr |
C |
A |
4: 101,649,220 (GRCm39) |
P874T |
probably damaging |
Het |
Mad2l2 |
T |
A |
4: 148,228,067 (GRCm39) |
F100L |
probably damaging |
Het |
Mavs |
A |
T |
2: 131,087,518 (GRCm39) |
R339* |
probably null |
Het |
Mettl1 |
G |
A |
10: 126,877,843 (GRCm39) |
|
probably benign |
Het |
Mfsd8 |
A |
G |
3: 40,774,031 (GRCm39) |
V493A |
possibly damaging |
Het |
Mtmr9 |
C |
T |
14: 63,779,901 (GRCm39) |
V63M |
possibly damaging |
Het |
Mto1 |
T |
C |
9: 78,368,131 (GRCm39) |
I425T |
possibly damaging |
Het |
Or2av9 |
A |
T |
11: 58,380,900 (GRCm39) |
M227K |
probably damaging |
Het |
Or5g29 |
A |
G |
2: 85,420,950 (GRCm39) |
Y22C |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pclo |
C |
T |
5: 14,727,937 (GRCm39) |
|
probably benign |
Het |
Phf2 |
T |
C |
13: 48,969,533 (GRCm39) |
D608G |
unknown |
Het |
Plch2 |
T |
C |
4: 155,068,829 (GRCm39) |
T1266A |
probably benign |
Het |
Prdm12 |
A |
G |
2: 31,533,889 (GRCm39) |
N169D |
probably damaging |
Het |
Rimbp3 |
A |
G |
16: 17,030,134 (GRCm39) |
Y1186C |
probably damaging |
Het |
Serpinb3d |
T |
C |
1: 107,006,989 (GRCm39) |
M240V |
probably damaging |
Het |
Slc25a38 |
C |
T |
9: 119,945,658 (GRCm39) |
R74C |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
Slc26a8 |
T |
C |
17: 28,867,129 (GRCm39) |
N564S |
probably damaging |
Het |
Spag4 |
G |
A |
2: 155,907,696 (GRCm39) |
|
probably benign |
Het |
Stx1b |
A |
G |
7: 127,407,035 (GRCm39) |
M74T |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,507,242 (GRCm39) |
D1153G |
probably benign |
Het |
Tert |
T |
C |
13: 73,776,700 (GRCm39) |
F484L |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,649,494 (GRCm39) |
V72A |
probably benign |
Het |
Tnfrsf13c |
T |
C |
15: 82,107,355 (GRCm39) |
T147A |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,959,710 (GRCm39) |
Y659N |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,761,516 (GRCm39) |
F1045L |
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,405,772 (GRCm39) |
H529R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,545,614 (GRCm39) |
T32570A |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,860,359 (GRCm39) |
T892A |
possibly damaging |
Het |
Uty |
A |
T |
Y: 1,174,836 (GRCm39) |
M195K |
probably benign |
Het |
Zfp109 |
A |
G |
7: 23,928,978 (GRCm39) |
S152P |
possibly damaging |
Het |
Zfp532 |
T |
C |
18: 65,777,281 (GRCm39) |
V846A |
probably damaging |
Het |
Zfp658 |
A |
T |
7: 43,223,951 (GRCm39) |
H742L |
possibly damaging |
Het |
Zfp831 |
C |
A |
2: 174,547,299 (GRCm39) |
P1494Q |
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 |
|
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'- TTATGTCAGCCTACAGCCCC -3'
(R):5'- ATCTGAGGTTGTGTCATGAACATAC -3'
Sequencing Primer
(F):5'- GCCCCAGTAGGAAGACACTTC -3'
(R):5'- GTGTCATGAACATACATCTATGCAC -3'
|
Posted On |
2017-08-16 |