Incidental Mutation 'R9440:Bach1'
| ID |
713607 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 87516603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 381
(S381R)
|
| 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: S381R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: S381R
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,499,452 (GRCm39) |
T1359M |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,384,085 (GRCm39) |
C2205S |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,841,591 (GRCm39) |
E70G |
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,992 (GRCm39) |
|
probably null |
Het |
| Asb4 |
A |
G |
6: 5,429,817 (GRCm39) |
I352M |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,101,961 (GRCm39) |
L101P |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,382,217 (GRCm39) |
D440E |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,747,914 (GRCm39) |
D191V |
probably benign |
Het |
| Cfap298 |
A |
T |
16: 90,726,832 (GRCm39) |
V116E |
probably benign |
Het |
| Cfd |
T |
C |
10: 79,726,816 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
G |
A |
7: 3,656,560 (GRCm39) |
E252K |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,068 (GRCm39) |
D2622G |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,801,602 (GRCm39) |
S612P |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,581 (GRCm39) |
K167R |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,335 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,833,706 (GRCm39) |
T192A |
possibly damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,911 (GRCm39) |
V20A |
|
Het |
| Gorasp2 |
T |
C |
2: 70,541,469 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,229,315 (GRCm39) |
S947P |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,455,600 (GRCm39) |
V876A |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,938,196 (GRCm39) |
D1433E |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,453,175 (GRCm39) |
C171* |
probably null |
Het |
| Micall1 |
C |
T |
15: 79,011,159 (GRCm39) |
P510S |
|
Het |
| Morc3 |
A |
G |
16: 93,649,975 (GRCm39) |
|
probably null |
Het |
| Mrpl28 |
G |
T |
17: 26,345,266 (GRCm39) |
V229F |
possibly damaging |
Het |
| Mrps33 |
A |
T |
6: 39,782,364 (GRCm39) |
Y52* |
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,202 (GRCm39) |
I144T |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,433,329 (GRCm39) |
M1657V |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or5p67 |
A |
G |
7: 107,922,037 (GRCm39) |
I282T |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,912 (GRCm39) |
K637R |
probably benign |
Het |
| Prob1 |
G |
T |
18: 35,786,218 (GRCm39) |
L679I |
possibly damaging |
Het |
| Sgms2 |
C |
A |
3: 131,118,718 (GRCm39) |
C255F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,383,090 (GRCm39) |
C399R |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,915,455 (GRCm39) |
|
probably null |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,906 (GRCm39) |
L102* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,072,273 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,886,932 (GRCm39) |
|
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,760,234 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,709 (GRCm39) |
I358V |
probably benign |
Het |
| Uroc1 |
C |
A |
6: 90,322,353 (GRCm39) |
S292R |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,415 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vps33a |
A |
T |
5: 123,703,047 (GRCm39) |
I192N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,516,724 (GRCm39) |
I69V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,064 (GRCm39) |
S1176P |
|
Het |
| Xirp1 |
G |
A |
9: 119,847,203 (GRCm39) |
T560M |
probably damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,359 (GRCm39) |
T266S |
possibly 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 |
|
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 |
|
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 |
|
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'- GTCAGCCTTACACACATATGAGC -3'
(R):5'- AGAGTTGTGAAAGTCCGCTGG -3'
Sequencing Primer
(F):5'- CTTACACACATATGAGCAGTCAGGTG -3'
(R):5'- GGGGCTCTCACTGATCCTGATAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation