Incidental Mutation 'R9283:Bach1'
| ID |
703775 |
| 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 # |
R9283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87495842-87530234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87516211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 251
(T251A)
|
| 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: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: T251A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,499 (GRCm39) |
V47A |
probably benign |
Het |
| Aamdc |
A |
G |
7: 97,199,842 (GRCm39) |
V140A |
probably benign |
Het |
| Acsm3 |
T |
A |
7: 119,373,115 (GRCm39) |
M206K |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,273,540 (GRCm39) |
T1073A |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,882,261 (GRCm39) |
I46V |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,722,259 (GRCm39) |
S246G |
probably damaging |
Het |
| Cry2 |
A |
G |
2: 92,244,249 (GRCm39) |
L308P |
probably damaging |
Het |
| Daam1 |
G |
T |
12: 72,035,696 (GRCm39) |
G964C |
probably damaging |
Het |
| Ddx10 |
T |
G |
9: 53,146,656 (GRCm39) |
N189H |
probably benign |
Het |
| Dlg4 |
T |
A |
11: 69,922,617 (GRCm39) |
C241* |
probably null |
Het |
| Dpy19l1 |
G |
T |
9: 24,332,412 (GRCm39) |
Y489* |
probably null |
Het |
| E2f4 |
C |
A |
8: 106,024,395 (GRCm39) |
A8E |
probably benign |
Het |
| Gm3486 |
T |
C |
14: 41,210,268 (GRCm39) |
N71S |
possibly damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,225 (GRCm39) |
W66R |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 75,023,307 (GRCm39) |
L587P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,392,233 (GRCm39) |
Y274H |
possibly damaging |
Het |
| Kif16b |
T |
A |
2: 142,554,900 (GRCm39) |
M633L |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,852,651 (GRCm39) |
N21S |
probably benign |
Het |
| Lamtor3 |
C |
T |
3: 137,633,123 (GRCm39) |
R85C |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,493,493 (GRCm39) |
T240S |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,519 (GRCm39) |
G399V |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,221,903 (GRCm39) |
V77I |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,777,149 (GRCm39) |
A403V |
probably benign |
Het |
| Naf1 |
C |
A |
8: 67,313,503 (GRCm39) |
A162E |
unknown |
Het |
| Nat10 |
G |
A |
2: 103,556,092 (GRCm39) |
Q910* |
probably null |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,689 (GRCm39) |
K58R |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,001,058 (GRCm39) |
I192F |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
| Or10a3 |
C |
T |
7: 108,480,289 (GRCm39) |
A175T |
probably benign |
Het |
| Or2d4 |
G |
A |
7: 106,543,806 (GRCm39) |
T134I |
probably benign |
Het |
| Or5b105 |
C |
A |
19: 13,079,821 (GRCm39) |
M282I |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,961 (GRCm39) |
C239S |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,212,419 (GRCm39) |
K309E |
possibly damaging |
Het |
| Pcdh17 |
C |
T |
14: 84,685,593 (GRCm39) |
P687S |
possibly damaging |
Het |
| Pdpr |
C |
T |
8: 111,856,268 (GRCm39) |
R664W |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,708 (GRCm39) |
V498E |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,220 (GRCm39) |
Y157F |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,637 (GRCm39) |
F2358I |
probably damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,337,376 (GRCm39) |
Y304C |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,655,642 (GRCm39) |
A370V |
probably benign |
Het |
| Polm |
A |
T |
11: 5,779,050 (GRCm39) |
L490H |
probably damaging |
Het |
| Prdm5 |
T |
C |
6: 65,858,060 (GRCm39) |
C375R |
probably damaging |
Het |
| Scmh1 |
A |
T |
4: 120,319,337 (GRCm39) |
M21L |
probably benign |
Het |
| Sec16a |
C |
A |
2: 26,313,904 (GRCm39) |
R449S |
|
Het |
| Sin3a |
C |
T |
9: 57,002,717 (GRCm39) |
T203I |
probably damaging |
Het |
| Six5 |
A |
G |
7: 18,829,148 (GRCm39) |
E196G |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,785,644 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,511 (GRCm39) |
G122E |
probably damaging |
Het |
| Smim14 |
A |
G |
5: 65,625,780 (GRCm39) |
C11R |
probably damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,630,174 (GRCm39) |
I718T |
probably damaging |
Het |
| Tead4 |
A |
G |
6: 128,205,592 (GRCm39) |
L370P |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,630 (GRCm39) |
K15E |
unknown |
Het |
| Trim55 |
T |
G |
3: 19,699,612 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
T |
7: 63,873,623 (GRCm39) |
N510I |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,694,447 (GRCm39) |
V616A |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,264 (GRCm39) |
V405E |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,748 (GRCm39) |
S238T |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,913 (GRCm39) |
H1009R |
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 |
|
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'- TGTTCAGACGCCTCAGTGTG -3'
(R):5'- TGCAGAATCCTGAGGCAAGG -3'
Sequencing Primer
(F):5'- GGGCAGTGTAAAAGCATCCCC -3'
(R):5'- AATCCTGAGGCAAGGGTGTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation