Incidental Mutation 'R7714:Bach1'
| ID |
594816 |
| 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 |
045772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 87515736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 92
(Y92*)
|
| 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 null
Transcript: ENSMUST00000026703
AA Change: Y92*
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: Y92*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (63/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,587 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
A |
4: 156,279,854 (GRCm39) |
D106Y |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,352 (GRCm39) |
Y416N |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,775,533 (GRCm39) |
T135M |
probably damaging |
Het |
| Catsperg1 |
A |
C |
7: 28,884,907 (GRCm39) |
C905G |
probably null |
Het |
| Cbr2 |
T |
C |
11: 120,620,628 (GRCm39) |
I219V |
probably benign |
Het |
| Ccdc3 |
A |
T |
2: 5,233,908 (GRCm39) |
K244I |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,265,433 (GRCm39) |
V237A |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,319 (GRCm39) |
C81R |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,242,723 (GRCm39) |
|
probably null |
Het |
| Cracdl |
T |
A |
1: 37,663,858 (GRCm39) |
Q680L |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,379,236 (GRCm39) |
S673T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,276,743 (GRCm39) |
Y848* |
probably null |
Het |
| Dgkb |
C |
A |
12: 38,680,592 (GRCm39) |
T764K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,775,648 (GRCm39) |
C530* |
probably null |
Het |
| Dpyd |
A |
G |
3: 118,597,780 (GRCm39) |
K254R |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,384,614 (GRCm39) |
P703S |
possibly damaging |
Het |
| Ehhadh |
A |
T |
16: 21,585,140 (GRCm39) |
I247N |
probably damaging |
Het |
| Fer1l5 |
T |
G |
1: 36,440,558 (GRCm39) |
L597R |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,842 (GRCm39) |
E71G |
probably damaging |
Het |
| Fnip2 |
A |
C |
3: 79,425,421 (GRCm39) |
V58G |
probably damaging |
Het |
| Gapdhs |
A |
T |
7: 30,431,349 (GRCm39) |
I377N |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,733,359 (GRCm39) |
A1059V |
probably damaging |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Grik2 |
A |
C |
10: 49,295,792 (GRCm39) |
I392S |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,606 (GRCm39) |
L228P |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,223,568 (GRCm39) |
M659L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,580,364 (GRCm39) |
C570R |
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,812,279 (GRCm39) |
|
probably null |
Het |
| Lipf |
G |
A |
19: 33,943,048 (GRCm39) |
G119R |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,719 (GRCm39) |
I1416M |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,028,130 (GRCm39) |
I345L |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,722,360 (GRCm39) |
A2381T |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,001,007 (GRCm39) |
V690A |
probably benign |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 35,083,872 (GRCm39) |
Y106H |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,549,519 (GRCm39) |
Y166H |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,364,493 (GRCm39) |
H390L |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,425,472 (GRCm39) |
N280K |
probably damaging |
Het |
| Or10aa1 |
G |
A |
1: 173,869,900 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b116 |
A |
T |
19: 13,423,252 (GRCm39) |
N292I |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,597 (GRCm39) |
F1947L |
probably damaging |
Het |
| Pabpc4 |
G |
A |
4: 123,189,102 (GRCm39) |
A481T |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,741,791 (GRCm39) |
T53I |
possibly damaging |
Het |
| Pilra |
C |
T |
5: 137,833,679 (GRCm39) |
R129Q |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,769,250 (GRCm39) |
A5V |
unknown |
Het |
| Pmch |
T |
C |
10: 87,927,242 (GRCm39) |
S82P |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,292,276 (GRCm39) |
S180G |
probably benign |
Het |
| Rassf8 |
A |
C |
6: 145,760,973 (GRCm39) |
T100P |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,890 (GRCm39) |
E394G |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,838,772 (GRCm39) |
V418E |
probably benign |
Het |
| Sdad1 |
A |
T |
5: 92,450,538 (GRCm39) |
V199D |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,063,761 (GRCm39) |
S2227T |
probably benign |
Het |
| Tac4 |
A |
G |
11: 95,156,116 (GRCm39) |
M66V |
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,031 (GRCm39) |
V188A |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,694,000 (GRCm39) |
V707A |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,129 (GRCm39) |
E32G |
possibly damaging |
Het |
| Trav13d-4 |
G |
A |
14: 53,995,355 (GRCm39) |
G103D |
probably damaging |
Het |
| Trav8d-1 |
A |
G |
14: 53,016,380 (GRCm39) |
S89G |
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,718,572 (GRCm39) |
S141L |
probably benign |
Het |
| Vash1 |
T |
C |
12: 86,738,614 (GRCm39) |
S354P |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,116 (GRCm39) |
I726F |
|
Het |
| Vmn2r53 |
A |
C |
7: 12,340,418 (GRCm39) |
N18K |
probably damaging |
Het |
| Wnt6 |
T |
C |
1: 74,823,422 (GRCm39) |
F253S |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,811 (GRCm39) |
I118T |
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 |
|
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'- TAGTTTTGCATTTCCTAGAGCAGTG -3'
(R):5'- TTCTGACAGTGTGAGGAGAAGC -3'
Sequencing Primer
(F):5'- GCAGGATATCTGATATGTGACCCC -3'
(R):5'- TTCCTGCTGCTCTGAAGT -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation