Incidental Mutation 'R5810:Baz1a'
| ID |
501532 |
| 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 |
043395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 54974500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
| AlphaFold |
O88379 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038926
|
| SMART Domains |
Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174225
|
| SMART Domains |
Protein: ENSMUSP00000133324
Gene: ENSMUSG00000035021
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDT
|
45 |
78 |
8.8e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (66/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,079,631 (GRCm39) |
F866L |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Actl11 |
C |
T |
9: 107,806,420 (GRCm39) |
P248S |
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,344,116 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,005,638 (GRCm39) |
|
probably null |
Het |
| Car13 |
A |
C |
3: 14,706,828 (GRCm39) |
|
probably null |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,564,280 (GRCm39) |
E704G |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,072 (GRCm39) |
I450F |
possibly damaging |
Het |
| Ddhd1 |
G |
T |
14: 45,840,164 (GRCm39) |
T710N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,465,422 (GRCm39) |
Q1360* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,196,322 (GRCm39) |
V1625A |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,222,121 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
G |
T |
10: 118,696,245 (GRCm39) |
H338N |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,341,575 (GRCm39) |
I187F |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,983,051 (GRCm39) |
D221G |
probably damaging |
Het |
| Fam53b |
T |
A |
7: 132,361,893 (GRCm39) |
N45I |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,248,098 (GRCm39) |
D1006E |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,818,894 (GRCm39) |
V232A |
probably damaging |
Het |
| Gm28308 |
C |
A |
6: 52,190,196 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 34,994,796 (GRCm39) |
A490V |
probably benign |
Het |
| Hoxa7 |
T |
C |
6: 52,193,004 (GRCm39) |
D128G |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,035,977 (GRCm39) |
T751A |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,226,492 (GRCm39) |
L2394F |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,738,063 (GRCm39) |
|
probably null |
Het |
| Il17re |
C |
T |
6: 113,446,557 (GRCm39) |
A436V |
probably damaging |
Het |
| Krtap19-2 |
T |
C |
16: 88,671,124 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,820 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
C |
19: 7,584,085 (GRCm39) |
D4G |
probably benign |
Het |
| Liph |
A |
T |
16: 21,786,860 (GRCm39) |
L252Q |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,725,898 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,982,316 (GRCm39) |
L1139P |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,792,088 (GRCm39) |
R812G |
probably benign |
Het |
| Npm3 |
A |
G |
19: 45,736,644 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or1e22 |
G |
T |
11: 73,376,921 (GRCm39) |
S243* |
probably null |
Het |
| Osbpl9 |
A |
G |
4: 108,943,571 (GRCm39) |
V231A |
probably benign |
Het |
| Pgam2 |
T |
C |
11: 5,753,417 (GRCm39) |
H91R |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,270,897 (GRCm39) |
W3219R |
probably benign |
Het |
| Procr |
A |
G |
2: 155,593,327 (GRCm39) |
K4E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,471,314 (GRCm39) |
T495I |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,601,222 (GRCm39) |
K425E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,003,598 (GRCm39) |
C500S |
probably damaging |
Het |
| Snrpd2 |
G |
T |
7: 18,886,447 (GRCm39) |
V77F |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,593,006 (GRCm39) |
G145D |
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,821,308 (GRCm39) |
E678K |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,084,627 (GRCm39) |
K538E |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,460,832 (GRCm39) |
R3356W |
probably benign |
Het |
| Stx1a |
G |
T |
5: 135,077,932 (GRCm39) |
V255F |
probably damaging |
Het |
| Tbc1d13 |
C |
A |
2: 30,032,380 (GRCm39) |
Q164K |
probably benign |
Het |
| Tfpi |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
2: 84,264,768 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,968 (GRCm39) |
|
probably benign |
Het |
| Triobp |
T |
C |
15: 78,852,467 (GRCm39) |
C874R |
probably benign |
Het |
| Tymp |
T |
A |
15: 89,258,534 (GRCm39) |
H269L |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,597 (GRCm39) |
Y71* |
probably null |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,804 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,815 (GRCm39) |
C589S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,688 (GRCm39) |
T2063A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,775,510 (GRCm39) |
I217M |
probably damaging |
Het |
| Zfp322a |
A |
C |
13: 23,541,579 (GRCm39) |
Y54* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 12,994,662 (GRCm39) |
V498D |
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 |
|
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'- CCAGTTTTACTATATAGCTGCTAGC -3'
(R):5'- TTGACTGACTTTAGTGCACTGAC -3'
Sequencing Primer
(F):5'- GCTCAATCAGCAATGGTGTTGAAC -3'
(R):5'- CTTGAGAGAACAGCCTCA -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation