Incidental Mutation 'R0701:Bach1'
| ID |
63032 |
| 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 |
038884-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0701 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87516877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 473
(E473K)
|
| 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: E473K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: E473K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156958
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
G |
2: 163,571,995 (GRCm39) |
V261A |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Bsph1 |
G |
T |
7: 13,206,181 (GRCm39) |
C72F |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
| C9 |
A |
C |
15: 6,496,902 (GRCm39) |
T200P |
probably damaging |
Het |
| Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,871,089 (GRCm39) |
Y268* |
probably null |
Het |
| Csad |
A |
G |
15: 102,087,571 (GRCm39) |
S331P |
probably benign |
Het |
| Ddx31 |
G |
T |
2: 28,748,789 (GRCm39) |
R239L |
probably null |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,116,508 (GRCm39) |
R628* |
probably null |
Het |
| Fmnl3 |
T |
C |
15: 99,219,188 (GRCm39) |
N778S |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,323,359 (GRCm39) |
T417M |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Hoxb3 |
C |
A |
11: 96,237,074 (GRCm39) |
S384* |
probably null |
Het |
| Ifnar2 |
A |
G |
16: 91,201,117 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,069,905 (GRCm39) |
V37E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,712,080 (GRCm39) |
T581M |
probably benign |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,263 (GRCm39) |
D1313E |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,677 (GRCm39) |
I503K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,094 (GRCm39) |
F1089L |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,655 (GRCm39) |
I221N |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,359,706 (GRCm39) |
D259V |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab27b |
A |
T |
18: 70,118,270 (GRCm39) |
C216S |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,843,762 (GRCm39) |
I151T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,783,747 (GRCm39) |
D227G |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,848,378 (GRCm39) |
T632K |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Stap1 |
T |
C |
5: 86,242,667 (GRCm39) |
|
probably null |
Het |
| Syt16 |
G |
A |
12: 74,281,886 (GRCm39) |
V337I |
probably benign |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,728,412 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,419,829 (GRCm39) |
E144G |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zap70 |
G |
A |
1: 36,820,258 (GRCm39) |
R513Q |
probably damaging |
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 |
|
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 |
|
R8480:Bach1
|
UTSW |
16 |
87,516,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGCCAAATGCAGTTGTCGCCC -3'
(R):5'- ACCACAGATGAAAAGCTTGCTGTCC -3'
Sequencing Primer
(F):5'- AGTTGTCGCCCACTGTG -3'
(R):5'- AGCCGGAGCTTATCACATGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation