Incidental Mutation 'R8480:Bach1'
| ID |
657501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bach1
|
| Ensembl Gene |
ENSMUSG00000025612 |
| Gene Name |
BTB and CNC homology 1, basic leucine zipper transcription factor 1 |
| Synonyms |
6230421P05Rik |
| MMRRC Submission |
067924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87516163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 235
(G235R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026703]
|
| AlphaFold |
P97302 |
| PDB Structure |
Structure of mouse Bach1 BTB domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026703
AA Change: G235R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: G235R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
130 |
1.23e-24 |
SMART |
|
Blast:BTB
|
153 |
235 |
2e-29 |
BLAST |
|
low complexity region
|
378 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
|
BRLZ
|
556 |
622 |
1.2e-12 |
SMART |
|
low complexity region
|
699 |
717 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2273 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mice are healthy and fertile with no gross abnormalities but express elevated levels of HMOX1. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,108,720 (GRCm39) |
V499M |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,294,475 (GRCm39) |
Q375* |
probably null |
Het |
| Adgrf1 |
G |
A |
17: 43,606,055 (GRCm39) |
E60K |
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,630 (GRCm39) |
V70A |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,695,709 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Aste1 |
A |
T |
9: 105,274,995 (GRCm39) |
T351S |
probably damaging |
Het |
| Bace2 |
T |
A |
16: 97,214,670 (GRCm39) |
L286Q |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,769,376 (GRCm39) |
M246I |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,848,630 (GRCm39) |
H516Q |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,842,486 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 164,988,646 (GRCm39) |
E236D |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,975,043 (GRCm39) |
D1234G |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Cpt2 |
A |
G |
4: 107,764,957 (GRCm39) |
I269T |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,945,619 (GRCm39) |
S323T |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,508,608 (GRCm39) |
Q436K |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,073,859 (GRCm39) |
I294F |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,794 (GRCm39) |
D2306E |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,280 (GRCm39) |
D626V |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,290 (GRCm39) |
T27A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,373,568 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,551,029 (GRCm39) |
W406R |
probably null |
Het |
| Ighv1-66 |
C |
T |
12: 115,557,002 (GRCm39) |
G27R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,228,426 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt34 |
T |
A |
11: 99,930,971 (GRCm39) |
|
probably null |
Het |
| Krt36 |
T |
C |
11: 99,993,635 (GRCm39) |
D401G |
possibly damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,518,827 (GRCm39) |
G326S |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,802 (GRCm39) |
N758S |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,202,056 (GRCm39) |
|
probably null |
Het |
| Muc4 |
C |
T |
16: 32,574,421 (GRCm39) |
T957I |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,743 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,859 (GRCm39) |
V829E |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,557,827 (GRCm39) |
L72F |
possibly damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,330 (GRCm39) |
D275E |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,407 (GRCm39) |
V1161E |
probably damaging |
Het |
| Raver1 |
A |
G |
9: 21,001,576 (GRCm39) |
Y86H |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,588,705 (GRCm39) |
H1035Q |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,284 (GRCm39) |
M814K |
probably benign |
Het |
| Sh3d19 |
T |
G |
3: 85,992,184 (GRCm39) |
W71G |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,065,529 (GRCm39) |
Y759C |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,943,560 (GRCm39) |
D197E |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,939,328 (GRCm39) |
D588V |
probably damaging |
Het |
| Supt20 |
C |
A |
3: 54,614,537 (GRCm39) |
T181K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,244,015 (GRCm39) |
S1363R |
probably benign |
Het |
| Tbcel |
G |
A |
9: 42,375,169 (GRCm39) |
|
probably null |
Het |
| Ube2e3 |
T |
C |
2: 78,749,158 (GRCm39) |
L169P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,778,796 (GRCm39) |
F595S |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,323 (GRCm39) |
P670Q |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,986,299 (GRCm39) |
A660V |
probably benign |
Het |
|
| Other mutations in Bach1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01553:Bach1
|
APN |
16 |
87,519,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Bach1
|
UTSW |
16 |
87,526,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0701:Bach1
|
UTSW |
16 |
87,516,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1070:Bach1
|
UTSW |
16 |
87,517,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1160:Bach1
|
UTSW |
16 |
87,512,322 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2066:Bach1
|
UTSW |
16 |
87,526,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2235:Bach1
|
UTSW |
16 |
87,517,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Bach1
|
UTSW |
16 |
87,512,267 (GRCm39) |
start gained |
probably benign |
|
|
R4801:Bach1
|
UTSW |
16 |
87,519,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4802:Bach1
|
UTSW |
16 |
87,519,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4989:Bach1
|
UTSW |
16 |
87,515,888 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5016:Bach1
|
UTSW |
16 |
87,516,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5527:Bach1
|
UTSW |
16 |
87,516,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5657:Bach1
|
UTSW |
16 |
87,516,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6064:Bach1
|
UTSW |
16 |
87,526,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Bach1
|
UTSW |
16 |
87,516,745 (GRCm39) |
nonsense |
probably null |
|
|
R7009:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7027:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7028:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7029:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7030:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7095:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7096:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7192:Bach1
|
UTSW |
16 |
87,526,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7385:Bach1
|
UTSW |
16 |
87,526,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7572:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7623:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7632:Bach1
|
UTSW |
16 |
87,517,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7714:Bach1
|
UTSW |
16 |
87,515,736 (GRCm39) |
nonsense |
probably null |
|
|
R7715:Bach1
|
UTSW |
16 |
87,516,859 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7746:Bach1
|
UTSW |
16 |
87,526,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:Bach1
|
UTSW |
16 |
87,515,893 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8129:Bach1
|
UTSW |
16 |
87,519,314 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8169:Bach1
|
UTSW |
16 |
87,519,390 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8296:Bach1
|
UTSW |
16 |
87,526,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Bach1
|
UTSW |
16 |
87,515,996 (GRCm39) |
missense |
probably benign |
|
|
R8388:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8389:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8391:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8691:Bach1
|
UTSW |
16 |
87,516,517 (GRCm39) |
missense |
probably benign |
|
|
R8748:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8749:Bach1
|
UTSW |
16 |
87,516,179 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8952:Bach1
|
UTSW |
16 |
87,512,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9255:Bach1
|
UTSW |
16 |
87,519,401 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9283:Bach1
|
UTSW |
16 |
87,516,211 (GRCm39) |
missense |
probably benign |
|
|
R9433:Bach1
|
UTSW |
16 |
87,516,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9434:Bach1
|
UTSW |
16 |
87,516,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9440:Bach1
|
UTSW |
16 |
87,516,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9487:Bach1
|
UTSW |
16 |
87,526,733 (GRCm39) |
missense |
probably benign |
|
|
R9501:Bach1
|
UTSW |
16 |
87,515,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9557:Bach1
|
UTSW |
16 |
87,516,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGACGCCTCAGTGTGAC -3'
(R):5'- CTGCAGAATCCTGAGGCAAG -3'
Sequencing Primer
(F):5'- TCAGTGTGACTCCCGCAG -3'
(R):5'- AATCCTGAGGCAAGGGTGTCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation