Incidental Mutation 'R7623:Bach1'
| ID |
589290 |
| 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 |
045718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7623 (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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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 |
|---|
| 2510009E07Rik |
G |
T |
16: 21,513,092 (GRCm39) |
L22M |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 109,998,384 (GRCm39) |
N1468S |
probably benign |
Het |
| Abcc5 |
C |
T |
16: 20,163,446 (GRCm39) |
D1264N |
possibly damaging |
Het |
| Abhd10 |
A |
G |
16: 45,553,099 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
G |
T |
11: 69,901,569 (GRCm39) |
A570E |
probably damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,586,629 (GRCm39) |
S355C |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,570,344 (GRCm39) |
V4953A |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 125,992,536 (GRCm39) |
Y836* |
probably null |
Het |
| Ccdc8 |
T |
A |
7: 16,730,537 (GRCm39) |
D675E |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,326,170 (GRCm39) |
V58A |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,879,295 (GRCm39) |
|
probably null |
Het |
| Cdh24 |
A |
T |
14: 54,875,547 (GRCm39) |
Y296N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,198,266 (GRCm39) |
E2054G |
unknown |
Het |
| Cnot1 |
A |
T |
8: 96,454,276 (GRCm39) |
F2067I |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,813,334 (GRCm39) |
F329S |
|
Het |
| Dact3 |
C |
A |
7: 16,619,840 (GRCm39) |
T445K |
unknown |
Het |
| Dph6 |
C |
A |
2: 114,485,379 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
A |
1: 34,209,517 (GRCm39) |
C1195S |
probably damaging |
Het |
| Eeig1 |
A |
G |
2: 32,456,346 (GRCm39) |
D336G |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,899,620 (GRCm39) |
N3138Y |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,483,651 (GRCm39) |
N187S |
|
Het |
| Fuca1 |
A |
G |
4: 135,660,405 (GRCm39) |
I308V |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,907,222 (GRCm39) |
R562G |
probably damaging |
Het |
| Gas8 |
G |
T |
8: 124,249,718 (GRCm39) |
R44S |
probably damaging |
Het |
| Gja5 |
T |
C |
3: 96,958,071 (GRCm39) |
S43P |
possibly damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,405 (GRCm39) |
D117G |
probably benign |
Het |
| Gmpr2 |
G |
A |
14: 55,910,491 (GRCm39) |
V58M |
probably damaging |
Het |
| Gtpbp6 |
T |
A |
5: 110,252,950 (GRCm39) |
I301F |
probably damaging |
Het |
| H2bc22 |
T |
A |
13: 21,971,762 (GRCm39) |
D26E |
probably benign |
Het |
| Hdhd5 |
T |
C |
6: 120,498,212 (GRCm39) |
Y129C |
probably damaging |
Het |
| Hemgn |
A |
G |
4: 46,396,504 (GRCm39) |
M244T |
probably benign |
Het |
| Hoxa1 |
T |
G |
6: 52,135,238 (GRCm39) |
|
probably null |
Het |
| Iglc1 |
T |
A |
16: 18,880,551 (GRCm39) |
H90L |
|
Het |
| Lamb2 |
C |
T |
9: 108,366,423 (GRCm39) |
S1545F |
possibly damaging |
Het |
| Mc4r |
T |
C |
18: 66,992,580 (GRCm39) |
T178A |
probably benign |
Het |
| Mcam |
T |
A |
9: 44,050,955 (GRCm39) |
S346T |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,626 (GRCm39) |
S713P |
probably benign |
Het |
| Mybl2 |
A |
G |
2: 162,914,752 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4k44 |
T |
C |
2: 111,368,281 (GRCm39) |
M118V |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,225 (GRCm39) |
I204F |
possibly damaging |
Het |
| Pak6 |
A |
G |
2: 118,525,068 (GRCm39) |
T565A |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,568,250 (GRCm39) |
T284A |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,756,384 (GRCm39) |
F1616Y |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
| Ppp3cc |
A |
C |
14: 70,478,394 (GRCm39) |
S269R |
probably benign |
Het |
| Ptprb |
A |
C |
10: 116,205,214 (GRCm39) |
D1856A |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
| Rnf8 |
T |
A |
17: 29,847,980 (GRCm39) |
V344E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,061,550 (GRCm39) |
L13P |
possibly damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,822,326 (GRCm39) |
H187L |
probably benign |
Het |
| Sdr16c6 |
T |
A |
4: 4,058,801 (GRCm39) |
I262F |
not run |
Het |
| Sec22a |
A |
G |
16: 35,149,894 (GRCm39) |
F211L |
probably benign |
Het |
| Slc16a4 |
G |
A |
3: 107,205,297 (GRCm39) |
A42T |
possibly damaging |
Het |
| Smap1 |
T |
A |
1: 23,887,376 (GRCm39) |
Q386L |
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,787,323 (GRCm39) |
F10L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,776,196 (GRCm39) |
T202A |
probably damaging |
Het |
| Stab1 |
C |
A |
14: 30,862,578 (GRCm39) |
V2282L |
probably benign |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,672,019 (GRCm39) |
G391D |
probably damaging |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,072 (GRCm39) |
S158G |
probably damaging |
Het |
| Trav6d-5 |
A |
G |
14: 53,032,843 (GRCm39) |
T31A |
probably benign |
Het |
| Tst |
G |
A |
15: 78,289,903 (GRCm39) |
A44V |
probably damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
probably benign |
Het |
| Vwc2 |
T |
C |
11: 11,066,415 (GRCm39) |
F168L |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfp605 |
A |
G |
5: 110,275,386 (GRCm39) |
Y168C |
probably benign |
Het |
| Zfp790 |
T |
A |
7: 29,525,130 (GRCm39) |
Y49* |
probably null |
Het |
| Zfp93 |
T |
C |
7: 23,975,794 (GRCm39) |
F593S |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,160,614 (GRCm39) |
T729I |
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 |
|
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'- AAGAAACGTGTTCAGACGCCTC -3'
(R):5'- AATCCTGAGGCAAGGGTGTC -3'
Sequencing Primer
(F):5'- TGTTCAGACGCCTCAGTGTGAC -3'
(R):5'- CACTGAGGGGAGGGATCCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation