Incidental Mutation 'R7572:Bach1'
| ID |
586114 |
| 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 |
045658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7572 (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 87516179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 240
(R240Q)
|
| 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: R240Q
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: R240Q
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (56/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,128 (GRCm39) |
T57S |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,629 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,396,343 (GRCm39) |
I185F |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,312,097 (GRCm39) |
N683D |
probably benign |
Het |
| Chrna5 |
T |
A |
9: 54,913,749 (GRCm39) |
W432R |
probably damaging |
Het |
| Chrng |
T |
A |
1: 87,136,836 (GRCm39) |
L235Q |
probably damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,631 (GRCm39) |
C97* |
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,764,745 (GRCm39) |
H340N |
probably damaging |
Het |
| Dmtn |
A |
T |
14: 70,842,777 (GRCm39) |
M328K |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,806,506 (GRCm39) |
V413E |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,431,443 (GRCm39) |
L487* |
probably null |
Het |
| Esco2 |
A |
G |
14: 66,068,641 (GRCm39) |
V223A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,245,739 (GRCm39) |
D1139E |
possibly damaging |
Het |
| Gemin4 |
A |
G |
11: 76,104,408 (GRCm39) |
S118P |
probably damaging |
Het |
| Gm3604 |
A |
G |
13: 62,518,060 (GRCm39) |
I79T |
probably damaging |
Het |
| Gpatch3 |
T |
C |
4: 133,302,117 (GRCm39) |
V16A |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,731,063 (GRCm39) |
N90S |
unknown |
Het |
| Hr |
C |
T |
14: 70,799,293 (GRCm39) |
H593Y |
possibly damaging |
Het |
| Igkv4-50 |
A |
G |
6: 69,677,951 (GRCm39) |
V51A |
probably damaging |
Het |
| Insr |
C |
A |
8: 3,223,602 (GRCm39) |
V844F |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,075 (GRCm39) |
S423P |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,563 (GRCm39) |
I162V |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurog2 |
A |
G |
3: 127,427,550 (GRCm39) |
E58G |
probably damaging |
Het |
| Or4x6 |
T |
C |
2: 89,949,087 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,793 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e174 |
T |
G |
9: 20,012,154 (GRCm39) |
L33W |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,800,248 (GRCm39) |
M300K |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,648,105 (GRCm39) |
D422G |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,855,583 (GRCm39) |
E683G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,056,704 (GRCm39) |
D1305G |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rex2 |
T |
G |
4: 147,142,329 (GRCm39) |
I272M |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,014 (GRCm39) |
S12P |
possibly damaging |
Het |
| Samd15 |
C |
A |
12: 87,248,350 (GRCm39) |
P345Q |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,673,574 (GRCm39) |
I804N |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,891,667 (GRCm39) |
R165H |
possibly damaging |
Het |
| Slc22a30 |
T |
G |
19: 8,313,072 (GRCm39) |
M467L |
unknown |
Het |
| Slc2a5 |
T |
C |
4: 150,226,642 (GRCm39) |
I368T |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,749,200 (GRCm39) |
|
probably null |
Het |
| Snap91 |
T |
C |
9: 86,688,547 (GRCm39) |
T331A |
possibly damaging |
Het |
| Soat2 |
G |
T |
15: 102,062,456 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
C |
A |
7: 27,071,697 (GRCm39) |
R1589L |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,677,152 (GRCm39) |
Y443C |
probably damaging |
Het |
| Sult5a1 |
T |
C |
8: 123,872,117 (GRCm39) |
I242V |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,638 (GRCm39) |
R262G |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,784 (GRCm39) |
D267G |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,185,172 (GRCm39) |
V172A |
probably benign |
Het |
| Tcstv3 |
A |
T |
13: 120,779,107 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tmod1 |
T |
A |
4: 46,083,593 (GRCm39) |
S7R |
possibly damaging |
Het |
| Ubqln4 |
C |
T |
3: 88,462,731 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,514 (GRCm39) |
|
probably null |
Het |
| Usp30 |
G |
A |
5: 114,258,308 (GRCm39) |
S306N |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,970 (GRCm39) |
I660N |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,547 (GRCm39) |
V313A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,265,744 (GRCm39) |
H234R |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 8,065,327 (GRCm39) |
D245G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,172 (GRCm39) |
K1068E |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,124,856 (GRCm39) |
K539E |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,593,872 (GRCm39) |
H119Q |
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 |
|
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'- AAAGAAACGTGTTCAGACGC -3'
(R):5'- AATCCTGAGGCAAGGGTGTC -3'
Sequencing Primer
(F):5'- GAAACGTGTTCAGACGCCTCAG -3'
(R):5'- CACTGAGGGGAGGGATCCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation