Incidental Mutation 'R7746:Bach1'
| ID |
596860 |
| 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 |
045802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87526521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 661
(S661N)
|
| 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 benign
Transcript: ENSMUST00000026703
AA Change: S661N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: S661N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
| 9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
| Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
| Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
| C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,940,696 (GRCm39) |
I439V |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
| Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
| Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
| Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
| Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
| Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
| Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,352 (GRCm39) |
D16G |
probably benign |
Het |
| Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
| Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,894,708 (GRCm39) |
I1012M |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,801 (GRCm39) |
T281A |
probably benign |
Het |
| Syt4 |
T |
A |
18: 31,577,318 (GRCm39) |
D12V |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
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 |
|
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'- GAGCGAGACCACATTCTGTC -3'
(R):5'- TCAGTAGTGCACTTGTCAGAC -3'
Sequencing Primer
(F):5'- ACATTCTGTCAACGCTGGG -3'
(R):5'- TGTCAGACATCTGCTGACAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation