Incidental Mutation 'R7715:Bach1'
ID |
594883 |
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 |
045773-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7715 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87516859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 467
(I467V)
|
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 |
possibly damaging
Transcript: ENSMUST00000026703
AA Change: I467V
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026703 Gene: ENSMUSG00000025612 AA Change: I467V
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (67/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
G |
1: 53,221,659 (GRCm39) |
F57L |
probably benign |
Het |
Agl |
C |
T |
3: 116,551,905 (GRCm39) |
R563Q |
|
Het |
Ahctf1 |
A |
G |
1: 179,598,413 (GRCm39) |
M919T |
probably benign |
Het |
Ano4 |
A |
T |
10: 88,831,173 (GRCm39) |
N483K |
probably damaging |
Het |
Armt1 |
A |
G |
10: 4,400,751 (GRCm39) |
K166R |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,987,721 (GRCm39) |
V73A |
probably benign |
Het |
Atp6v0a2 |
A |
C |
5: 124,791,262 (GRCm39) |
T564P |
probably damaging |
Het |
B3gntl1 |
T |
C |
11: 121,530,622 (GRCm39) |
T150A |
possibly damaging |
Het |
Bicd1 |
A |
G |
6: 149,414,471 (GRCm39) |
K395E |
probably benign |
Het |
Cadps |
G |
A |
14: 12,457,762 (GRCm38) |
P1040S |
probably benign |
Het |
Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,201,631 (GRCm39) |
S80P |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,561,533 (GRCm39) |
|
probably null |
Het |
Cd34 |
A |
T |
1: 194,631,624 (GRCm39) |
N87Y |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,346 (GRCm39) |
I297F |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,400,197 (GRCm39) |
N439D |
probably damaging |
Het |
Cip2a |
A |
T |
16: 48,834,347 (GRCm39) |
Q643L |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,351,379 (GRCm39) |
I1569V |
unknown |
Het |
Cxcr4 |
C |
T |
1: 128,517,479 (GRCm39) |
V61M |
probably damaging |
Het |
Cyp20a1 |
G |
A |
1: 60,411,764 (GRCm39) |
V271M |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,381,120 (GRCm39) |
Y79C |
probably benign |
Het |
Daam1 |
A |
G |
12: 72,035,675 (GRCm39) |
K957E |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,664,427 (GRCm39) |
K947E |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,504 (GRCm39) |
K173R |
possibly damaging |
Het |
Emc1 |
C |
T |
4: 139,098,934 (GRCm39) |
R806C |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,011,801 (GRCm39) |
R816Q |
probably damaging |
Het |
Faf1 |
G |
T |
4: 109,568,011 (GRCm39) |
D24Y |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,695 (GRCm39) |
|
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,621 (GRCm39) |
T404A |
unknown |
Het |
Fra10ac1 |
T |
C |
19: 38,178,286 (GRCm39) |
E299G |
probably damaging |
Het |
Gon4l |
A |
G |
3: 88,815,313 (GRCm39) |
T1959A |
probably benign |
Het |
Gpam |
A |
C |
19: 55,077,353 (GRCm39) |
V146G |
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,972,081 (GRCm39) |
D953V |
probably benign |
Het |
Kcnc2 |
G |
T |
10: 112,107,845 (GRCm39) |
E79* |
probably null |
Het |
Kcnj12 |
T |
A |
11: 60,957,778 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
T |
11: 115,740,554 (GRCm39) |
T417S |
probably benign |
Het |
Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
Macc1 |
C |
T |
12: 119,409,991 (GRCm39) |
A253V |
possibly damaging |
Het |
Mark1 |
A |
G |
1: 184,639,431 (GRCm39) |
S529P |
probably damaging |
Het |
Mfsd6l |
T |
C |
11: 68,448,376 (GRCm39) |
L409P |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,459,794 (GRCm39) |
E34G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,433,829 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
T |
1: 75,478,680 (GRCm39) |
V686D |
probably damaging |
Het |
Or2l5 |
C |
T |
16: 19,333,480 (GRCm39) |
R302K |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,668 (GRCm39) |
M105L |
possibly damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,731 (GRCm39) |
G29R |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,732 (GRCm39) |
G29E |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,775 (GRCm39) |
M140K |
probably benign |
Het |
Or8g18 |
A |
T |
9: 39,149,174 (GRCm39) |
L182H |
probably damaging |
Het |
Ostm1 |
G |
A |
10: 42,559,183 (GRCm39) |
G148R |
probably benign |
Het |
Oxsr1 |
A |
G |
9: 119,071,822 (GRCm39) |
S470P |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,191,709 (GRCm39) |
M709I |
probably benign |
Het |
Pan2 |
A |
G |
10: 128,153,592 (GRCm39) |
M963V |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,795,904 (GRCm39) |
L662P |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,247,889 (GRCm39) |
N554S |
probably benign |
Het |
Sh3gl2 |
T |
A |
4: 85,317,077 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
A |
G |
12: 102,185,219 (GRCm39) |
M93V |
possibly damaging |
Het |
Sohlh1 |
A |
G |
2: 25,734,640 (GRCm39) |
S218P |
possibly damaging |
Het |
Spast |
T |
A |
17: 74,675,921 (GRCm39) |
N321K |
probably benign |
Het |
Srcap |
T |
G |
7: 127,148,460 (GRCm39) |
I1936S |
probably damaging |
Het |
Themis |
G |
A |
10: 28,739,305 (GRCm39) |
V592I |
probably benign |
Het |
Tnfrsf1a |
C |
T |
6: 125,338,377 (GRCm39) |
T296I |
possibly damaging |
Het |
Ttk |
A |
G |
9: 83,747,206 (GRCm39) |
T682A |
probably benign |
Het |
Virma |
C |
T |
4: 11,549,682 (GRCm39) |
R1807W |
probably damaging |
Het |
Virma |
A |
G |
4: 11,513,016 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,177 (GRCm39) |
D724E |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,195,307 (GRCm39) |
V673A |
probably damaging |
Het |
Wbp4 |
C |
T |
14: 79,703,734 (GRCm39) |
S271N |
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 |
|
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'- TGGAGTGACATTTGCAGCAC -3'
(R):5'- TGTGTGAACAGTGAGCGCAC -3'
Sequencing Primer
(F):5'- TGACATTTGCAGCACGGACTC -3'
(R):5'- TGAGCGCACACGTCCAC -3'
|
Posted On |
2019-11-12 |