Mutagenetix > Incidental Mutation

Incidental Mutation 'R5132:Bach2'

395859

Institutional Source

Beutler Lab

Gene Symbol

Bach2

Ensembl Gene

ENSMUSG00000040270

Gene Name

BTB and CNC homology, basic leucine zipper transcription factor 2

Synonyms

MMRRC Submission

042720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32238804-32586108 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 32563396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037416] [ENSMUST00000108180] [ENSMUST00000171600]

AlphaFold

P97303

Predicted Effect

probably benign
Transcript: ENSMUST00000037416

SMART Domains

Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270

Domain	Start	End	E-Value	Type
BTB	37	133	3.21e-28	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	313	326	N/A	INTRINSIC
low complexity region	328	343	N/A	INTRINSIC
BRLZ	520	584	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108180

SMART Domains

Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270

Domain	Start	End	E-Value	Type
BTB	37	133	3.21e-28	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	313	326	N/A	INTRINSIC
low complexity region	328	343	N/A	INTRINSIC
low complexity region	514	527	N/A	INTRINSIC
BRLZ	643	707	2.3e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149084

Predicted Effect

probably benign
Transcript: ENSMUST00000171600

SMART Domains

Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270

Domain	Start	End	E-Value	Type
BTB	37	133	3.21e-28	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	313	326	N/A	INTRINSIC
low complexity region	328	343	N/A	INTRINSIC
low complexity region	514	527	N/A	INTRINSIC
BRLZ	643	707	2.3e-14	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

MGI Phenotype

PHENOTYPE: Homozygous null mice display impaired B cell differentiation and reduced B cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	G	4: 41,517,178		probably benign	Het
Abl2	A	T	1: 156,641,832	K785*	probably null	Het
Acad11	A	T	9: 104,126,592	I628L	probably benign	Het
Ago1	T	C	4: 126,461,723	I98V	probably benign	Het
Calr3	C	T	8: 72,431,368		probably null	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cdc42ep3	C	T	17: 79,335,374	R39H	probably damaging	Het
Cyp2j5	T	C	4: 96,629,496	Y493C	probably damaging	Het
Ddx19b	A	T	8: 111,022,408	D66E	probably benign	Het
Drosha	A	G	15: 12,837,291	D287G	unknown	Het
Gm8888	A	G	15: 96,767,011		noncoding transcript	Het
Gpr25	G	T	1: 136,260,365	A170E	probably damaging	Het
Gria1	A	G	11: 57,289,399	Y656C	probably damaging	Het
Grik5	C	T	7: 25,065,204	V145I	probably benign	Het
Htt	T	C	5: 34,905,679	V2885A	possibly damaging	Het
Larp6	A	G	9: 60,737,210	E211G	probably damaging	Het
Magi1	C	A	6: 93,683,091		probably null	Het
Mtbp	A	G	15: 55,558,569	S63G	possibly damaging	Het
Ndor1	A	T	2: 25,247,769	S513T	probably benign	Het
Nsd3	A	G	8: 25,678,839	D670G	possibly damaging	Het
Olfr1118	A	T	2: 87,308,938	M50L	probably damaging	Het
Olfr1299	T	A	2: 111,664,999	Y258N	probably damaging	Het
Olfr513	T	C	7: 108,755,270	V138A	probably damaging	Het
Pcdh7	T	C	5: 57,728,121	V1061A	probably benign	Het
Pdia4	A	G	6: 47,796,735	I560T	probably benign	Het
Pomt2	A	G	12: 87,110,347	F733L	probably damaging	Het
Pprc1	T	C	19: 46,072,682		probably benign	Het
Prkca	T	C	11: 108,192,117		probably benign	Het
Pspc1	A	T	14: 56,723,250	S473T	probably benign	Het
Rgs12	A	G	5: 34,989,812		probably benign	Het
Scn3a	C	T	2: 65,468,204	V1384I	probably benign	Het
Serpinb6a	C	T	13: 33,918,322	D307N	probably benign	Het
Smap2	T	C	4: 120,973,173	E255G	possibly damaging	Het
St7	A	T	6: 17,854,957	I298F	probably damaging	Het
Tgm7	A	G	2: 121,104,219	F93L	probably damaging	Het
Timm23	A	T	14: 32,193,945	D56E	probably damaging	Het
Tmem170	A	T	8: 111,869,725	M56K	probably benign	Het

Other mutations in Bach2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01749:Bach2	APN	4	32580261	missense	probably damaging	1.00
IGL02137:Bach2	APN	4	32501621	start gained	probably benign
IGL02281:Bach2	APN	4	32562513	missense	possibly damaging	0.78
IGL02333:Bach2	APN	4	32575334	nonsense	probably null
IGL02369:Bach2	APN	4	32579975	missense	possibly damaging	0.85
IGL02533:Bach2	APN	4	32562451	missense	probably benign	0.00
Magnificat	UTSW	4	32563324	missense	probably damaging	1.00
R0011:Bach2	UTSW	4	32244655	intron	probably benign
R1240:Bach2	UTSW	4	32563198	missense	probably damaging	1.00
R1501:Bach2	UTSW	4	32562279	missense	possibly damaging	0.86
R2004:Bach2	UTSW	4	32580055	missense	probably benign	0.36
R2171:Bach2	UTSW	4	32501662	missense	probably damaging	0.97
R3827:Bach2	UTSW	4	32563150	missense	probably damaging	1.00
R3829:Bach2	UTSW	4	32563150	missense	probably damaging	1.00
R3830:Bach2	UTSW	4	32563150	missense	probably damaging	1.00
R4564:Bach2	UTSW	4	32563338	missense	probably damaging	1.00
R4660:Bach2	UTSW	4	32562777	missense	probably benign
R5307:Bach2	UTSW	4	32562683	missense	probably benign	0.11
R5491:Bach2	UTSW	4	32562681	missense	probably damaging	1.00
R5860:Bach2	UTSW	4	32580268	missense	probably damaging	1.00
R5983:Bach2	UTSW	4	32563324	missense	probably damaging	1.00
R6331:Bach2	UTSW	4	32238816	start gained	probably benign
R6770:Bach2	UTSW	4	32575240	missense	possibly damaging	0.81
R6806:Bach2	UTSW	4	32575301	missense	possibly damaging	0.66
R7146:Bach2	UTSW	4	32562670	missense	probably damaging	1.00
R7691:Bach2	UTSW	4	32580271	missense	probably damaging	1.00
R8062:Bach2	UTSW	4	32562937	missense	probably damaging	1.00
R8192:Bach2	UTSW	4	32562294	missense	probably benign	0.04
R8425:Bach2	UTSW	4	32562316	missense	probably benign
R8435:Bach2	UTSW	4	32501682	missense	possibly damaging	0.82
R8829:Bach2	UTSW	4	32562028	missense	probably damaging	0.96
R8854:Bach2	UTSW	4	32575263	missense	possibly damaging	0.93
R9329:Bach2	UTSW	4	32562175	missense	possibly damaging	0.92
R9739:Bach2	UTSW	4	32563042	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTTGCCACGGAACATC -3'
(R):5'- GGTCACCTTTAACCTTGACACC -3'

Sequencing Primer
(F):5'- TTGCCACGGAACATCAGGAAC -3'
(R):5'- AATGCCTCCATGAGATCTGG -3'

Posted On

2016-06-21