Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Bach1'

713607

Institutional Source

Beutler Lab

Gene Symbol

Bach1

Ensembl Gene

ENSMUSG00000025612

Gene Name

BTB and CNC homology 1, basic leucine zipper transcription factor 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87698945-87733346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87719715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 381 (S381R)

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: S381R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: S381R

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: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	Het

Other mutations in Bach1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Bach1	APN	16	87722505	missense	probably damaging	1.00
R0626:Bach1	UTSW	16	87729471	missense	possibly damaging	0.94
R0701:Bach1	UTSW	16	87719989	missense	probably damaging	0.99
R1070:Bach1	UTSW	16	87720121	missense	probably benign	0.02
R1160:Bach1	UTSW	16	87715434	missense	probably benign	0.34
R2066:Bach1	UTSW	16	87729625	missense	probably damaging	0.99
R2235:Bach1	UTSW	16	87720113	missense	probably damaging	1.00
R4716:Bach1	UTSW	16	87715379	start gained	probably benign
R4801:Bach1	UTSW	16	87722452	missense	probably damaging	0.99
R4802:Bach1	UTSW	16	87722452	missense	probably damaging	0.99
R4989:Bach1	UTSW	16	87719000	missense	possibly damaging	0.94
R5016:Bach1	UTSW	16	87719318	missense	possibly damaging	0.88
R5527:Bach1	UTSW	16	87719545	missense	probably benign	0.01
R5657:Bach1	UTSW	16	87719285	missense	probably benign	0.00
R6064:Bach1	UTSW	16	87729864	missense	probably damaging	1.00
R6384:Bach1	UTSW	16	87719857	nonsense	probably null
R7009:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7027:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7028:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7029:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7030:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7095:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7096:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7192:Bach1	UTSW	16	87729663	missense	possibly damaging	0.71
R7385:Bach1	UTSW	16	87729497	missense	probably damaging	0.99
R7571:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7572:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7623:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7632:Bach1	UTSW	16	87720143	missense	probably benign	0.00
R7714:Bach1	UTSW	16	87718848	nonsense	probably null
R7715:Bach1	UTSW	16	87719971	missense	possibly damaging	0.82
R7746:Bach1	UTSW	16	87729633	missense	probably benign	0.00
R7896:Bach1	UTSW	16	87719005	missense	possibly damaging	0.63
R8129:Bach1	UTSW	16	87722426	missense	possibly damaging	0.51
R8169:Bach1	UTSW	16	87722502	missense	possibly damaging	0.93
R8296:Bach1	UTSW	16	87729579	missense	probably damaging	1.00
R8300:Bach1	UTSW	16	87719108	missense	probably benign
R8388:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8389:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8391:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8480:Bach1	UTSW	16	87719275	missense	probably damaging	1.00
R8691:Bach1	UTSW	16	87719629	missense	probably benign
R8748:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8749:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8952:Bach1	UTSW	16	87715465	missense	probably damaging	0.99
R9255:Bach1	UTSW	16	87722513	missense	possibly damaging	0.93
R9283:Bach1	UTSW	16	87719323	missense	probably benign
R9433:Bach1	UTSW	16	87719715	missense	probably benign	0.01
R9434:Bach1	UTSW	16	87719715	missense	probably benign	0.01
R9487:Bach1	UTSW	16	87729845	missense	probably benign
R9501:Bach1	UTSW	16	87719111	missense	probably benign	0.00
R9557:Bach1	UTSW	16	87719715	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCAGCCTTACACACATATGAGC -3'
(R):5'- AGAGTTGTGAAAGTCCGCTGG -3'

Sequencing Primer
(F):5'- CTTACACACATATGAGCAGTCAGGTG -3'
(R):5'- GGGGCTCTCACTGATCCTGATAC -3'

Posted On

2022-06-15