Incidental Mutation 'R6317:Baz1a'
| ID |
510049 |
| 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 |
044417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
54939774-55061133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55001585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 145
(Q145R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038926]
[ENSMUST00000172875]
[ENSMUST00000173433]
|
| AlphaFold |
O88379 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038926
AA Change: Q145R
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: Q145R
| 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: ENSMUST00000172875
AA Change: Q145R
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134384
Gene: ENSMUSG00000035021
AA Change: Q145R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WAC_Acf1_DNA_bd
|
22 |
122 |
3e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173433
AA Change: Q145R
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: Q145R
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,601,264 (GRCm39) |
N206S |
probably damaging |
Het |
| Abcf2 |
A |
T |
5: 24,774,156 (GRCm39) |
Y315* |
probably null |
Het |
| Adck1 |
T |
G |
12: 88,368,921 (GRCm39) |
V133G |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,216,292 (GRCm39) |
F125S |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,713,410 (GRCm39) |
D319G |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,778 (GRCm39) |
E276G |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,861,104 (GRCm39) |
V36L |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,046 (GRCm39) |
F388S |
unknown |
Het |
| Col6a5 |
T |
A |
9: 105,766,266 (GRCm39) |
N1885Y |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,496,388 (GRCm39) |
C522S |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,760,658 (GRCm39) |
T159K |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,802 (GRCm39) |
L1977H |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,940,769 (GRCm39) |
K197* |
probably null |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,283 (GRCm39) |
S26P |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,130,949 (GRCm39) |
D321E |
probably damaging |
Het |
| Gria2 |
A |
C |
3: 80,648,311 (GRCm39) |
Y142D |
possibly damaging |
Het |
| Gspt1 |
T |
C |
16: 11,041,072 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,265 (GRCm39) |
V17D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,178,425 (GRCm39) |
L675* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,980,233 (GRCm39) |
R173Q |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,336,086 (GRCm39) |
I91T |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,348,979 (GRCm39) |
|
probably null |
Het |
| Mcemp1 |
G |
A |
8: 3,717,284 (GRCm39) |
W101* |
probably null |
Het |
| Naca |
T |
C |
10: 127,879,993 (GRCm39) |
I1675T |
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,125,514 (GRCm39) |
F155S |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,960,721 (GRCm39) |
D3406Y |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,466,273 (GRCm39) |
V1485A |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,760,119 (GRCm39) |
|
probably null |
Het |
| Or8a1 |
T |
C |
9: 37,641,725 (GRCm39) |
K185E |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,950,639 (GRCm39) |
P337H |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,898,242 (GRCm39) |
L140P |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Pex11g |
G |
T |
8: 3,514,092 (GRCm39) |
D23E |
probably damaging |
Het |
| Phactr2 |
A |
T |
10: 13,137,626 (GRCm39) |
M172K |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,974 (GRCm39) |
W91* |
probably null |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Podn |
A |
G |
4: 107,884,357 (GRCm39) |
F44S |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,527,205 (GRCm39) |
D87G |
possibly damaging |
Het |
| Prmt2 |
T |
A |
10: 76,058,351 (GRCm39) |
I153F |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,273,229 (GRCm39) |
V258A |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,655,521 (GRCm39) |
A482E |
probably damaging |
Het |
| Qrich1 |
A |
T |
9: 108,411,491 (GRCm39) |
N339Y |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,432,659 (GRCm39) |
V750D |
possibly damaging |
Het |
| Reg3d |
G |
A |
6: 78,354,428 (GRCm39) |
P58S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,212 (GRCm39) |
L1213P |
unknown |
Het |
| Sema6b |
A |
G |
17: 56,431,047 (GRCm39) |
L872S |
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,436 (GRCm39) |
I281T |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,838,821 (GRCm39) |
V685A |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,284,980 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc7a6 |
A |
T |
8: 106,919,099 (GRCm39) |
I228F |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,821,512 (GRCm39) |
T300A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,068,653 (GRCm39) |
N2151S |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,569,945 (GRCm39) |
I96L |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,966,070 (GRCm39) |
D528G |
probably benign |
Het |
| Ubl7 |
T |
C |
9: 57,818,456 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,839,716 (GRCm39) |
I983L |
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,742 (GRCm39) |
L209P |
probably damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn1r3 |
T |
C |
4: 3,184,993 (GRCm39) |
S105G |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,783,711 (GRCm39) |
H945Q |
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 |
|
|
R6092:Baz1a
|
UTSW |
12 |
54,955,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- GGGGTCTGTTCTTAAGCAGC -3'
(R):5'- TAGCCTTCAAAACATAGACTGTGTAGC -3'
Sequencing Primer
(F):5'- GGATCGTATACCACAGTATGACTAG -3'
(R):5'- ACTGTGTAGCTTATGAATGAATTTGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation