Incidental Mutation 'R1731:Baz1a'
ID |
199337 |
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 |
039763-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54965330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 708
(D708G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000173433]
|
AlphaFold |
O88379 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038926
AA Change: D711G
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039757 Gene: ENSMUSG00000035021 AA Change: D711G
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: D708G
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133478 Gene: ENSMUSG00000035021 AA Change: D708G
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 |
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
T |
A |
14: 68,762,805 (GRCm39) |
Y140F |
probably damaging |
Het |
Adgrl4 |
T |
G |
3: 151,246,623 (GRCm39) |
I641S |
possibly damaging |
Het |
Aqp9 |
A |
G |
9: 71,030,250 (GRCm39) |
I205T |
possibly damaging |
Het |
Arap3 |
C |
T |
18: 38,122,965 (GRCm39) |
V512I |
probably benign |
Het |
Atf2 |
C |
T |
2: 73,675,853 (GRCm39) |
G123E |
probably damaging |
Het |
Calcrl |
A |
G |
2: 84,175,512 (GRCm39) |
|
probably null |
Het |
Capzb |
T |
A |
4: 139,007,341 (GRCm39) |
W110R |
probably damaging |
Het |
Casp8ap2 |
A |
T |
4: 32,641,442 (GRCm39) |
N832I |
possibly damaging |
Het |
Cecr2 |
T |
A |
6: 120,735,141 (GRCm39) |
H764Q |
possibly damaging |
Het |
Cep131 |
T |
C |
11: 119,967,742 (GRCm39) |
|
probably null |
Het |
Ces2e |
T |
C |
8: 105,656,208 (GRCm39) |
V173A |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,408,591 (GRCm39) |
D944G |
probably benign |
Het |
Cyb5rl |
C |
A |
4: 106,938,110 (GRCm39) |
A189E |
probably damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,801,133 (GRCm39) |
S41P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,621,076 (GRCm39) |
L544P |
probably damaging |
Het |
Epha2 |
A |
G |
4: 141,049,063 (GRCm39) |
K640E |
possibly damaging |
Het |
Erap1 |
T |
A |
13: 74,814,241 (GRCm39) |
C8* |
probably null |
Het |
Fat3 |
A |
G |
9: 15,907,233 (GRCm39) |
V2923A |
probably benign |
Het |
Fat4 |
A |
T |
3: 38,945,459 (GRCm39) |
I1451F |
probably damaging |
Het |
Fcsk |
A |
T |
8: 111,621,455 (GRCm39) |
I163N |
probably damaging |
Het |
Fzd6 |
G |
A |
15: 38,894,722 (GRCm39) |
G296D |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,206,492 (GRCm39) |
M194L |
probably benign |
Het |
Gm5592 |
C |
T |
7: 40,937,837 (GRCm39) |
A373V |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,853,652 (GRCm39) |
|
probably null |
Het |
Hira |
T |
A |
16: 18,751,764 (GRCm39) |
V521E |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,830,348 (GRCm39) |
L141S |
possibly damaging |
Het |
Idua |
A |
G |
5: 108,829,538 (GRCm39) |
D467G |
probably benign |
Het |
Ikzf4 |
G |
A |
10: 128,470,401 (GRCm39) |
P373L |
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,609 (GRCm39) |
E185G |
probably benign |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lpcat4 |
T |
C |
2: 112,074,188 (GRCm39) |
L250P |
probably damaging |
Het |
Lrrc49 |
A |
G |
9: 60,528,914 (GRCm39) |
Y281H |
probably damaging |
Het |
Mta2 |
C |
A |
19: 8,925,088 (GRCm39) |
|
probably null |
Het |
Myo15b |
T |
C |
11: 115,782,386 (GRCm39) |
I372T |
possibly damaging |
Het |
Myocd |
T |
A |
11: 65,091,714 (GRCm39) |
N76I |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,197,922 (GRCm39) |
Y1123N |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,652,972 (GRCm39) |
C1127S |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,488,891 (GRCm39) |
K190E |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,037,478 (GRCm39) |
H1918R |
probably damaging |
Het |
Pde2a |
T |
A |
7: 101,150,867 (GRCm39) |
Y272N |
probably damaging |
Het |
Phldb3 |
T |
C |
7: 24,318,660 (GRCm39) |
V313A |
probably benign |
Het |
Plch2 |
C |
T |
4: 155,091,451 (GRCm39) |
V116I |
possibly damaging |
Het |
Plod2 |
G |
A |
9: 92,466,657 (GRCm39) |
|
probably null |
Het |
Ppfibp2 |
T |
C |
7: 107,339,796 (GRCm39) |
Y730H |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,604,912 (GRCm39) |
E44G |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,642,438 (GRCm39) |
E787G |
probably damaging |
Het |
Rabep2 |
T |
A |
7: 126,043,444 (GRCm39) |
L448Q |
probably damaging |
Het |
Rbfox3 |
A |
G |
11: 118,387,762 (GRCm39) |
|
probably null |
Het |
Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf125 |
A |
G |
18: 21,110,873 (GRCm39) |
T44A |
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,426,046 (GRCm39) |
A1384S |
probably benign |
Het |
Selp |
T |
A |
1: 163,969,009 (GRCm39) |
C536* |
probably null |
Het |
Serpinb3c |
G |
A |
1: 107,199,504 (GRCm39) |
T339I |
probably damaging |
Het |
Slc4a5 |
C |
T |
6: 83,273,617 (GRCm39) |
R986C |
probably damaging |
Het |
Slc8b1 |
T |
C |
5: 120,659,180 (GRCm39) |
I208T |
probably benign |
Het |
Sp3 |
G |
A |
2: 72,776,999 (GRCm39) |
H533Y |
probably damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,698 (GRCm39) |
R1615G |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,333,460 (GRCm39) |
E802G |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,061,842 (GRCm39) |
V164A |
probably benign |
Het |
Vmn1r68 |
A |
G |
7: 10,261,802 (GRCm39) |
Y99H |
probably damaging |
Het |
Vmn1r87 |
T |
A |
7: 12,865,703 (GRCm39) |
T195S |
possibly damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,466,972 (GRCm39) |
T21A |
probably benign |
Het |
Zfp108 |
C |
A |
7: 23,957,964 (GRCm39) |
H34Q |
possibly damaging |
Het |
Zfp267 |
T |
A |
3: 36,218,620 (GRCm39) |
F214L |
probably benign |
Het |
Zfp456 |
C |
T |
13: 67,514,674 (GRCm39) |
S344N |
probably benign |
Het |
Zscan22 |
T |
C |
7: 12,640,907 (GRCm39) |
C384R |
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 |
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'- TGAATCAAGACCTAGCCATGAAGCAG -3'
(R):5'- ATCAGCAGGTATCCAACCGCTCTC -3'
Sequencing Primer
(F):5'- GCAGAAAGAACCCTGCTGTC -3'
(R):5'- gcaggcaaaacacacacac -3'
|
Posted On |
2014-05-23 |