Incidental Mutation 'R2235:Bach1'
| ID |
240415 |
| 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 |
040236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87517001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 514
(D514G)
|
| 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 damaging
Transcript: ENSMUST00000026703
AA Change: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: D514G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156958
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
| Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
| Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
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 |
|
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 |
|
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'- CCTGGTTGGGTATCAGGATCAG -3'
(R):5'- GCAATGTGTGATGCATGCACAC -3'
Sequencing Primer
(F):5'- GCGGACTTTCACAACTCTCAG -3'
(R):5'- GTGTGATGCATGCACACACTCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation