Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Bach2'

653396

Institutional Source

Beutler Lab

Gene Symbol

Bach2

Ensembl Gene

ENSMUSG00000040270

Gene Name

BTB and CNC homology, basic leucine zipper transcription factor 2

Synonyms

E030004N02Rik

MMRRC Submission

067819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32238804-32586108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32562316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 261 (P261L)

Ref Sequence

ENSEMBL: ENSMUSP00000131592 (fasta)

Gene Model

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

AlphaFold

P97303

Predicted Effect

probably benign
Transcript: ENSMUST00000037416
AA Change: P261L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: P261L

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
AA Change: P261L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: P261L

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

probably benign
Transcript: ENSMUST00000171600
AA Change: P261L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: P261L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Agpat3	A	T	10: 78,118,211 (GRCm39)	V255E	possibly damaging	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Chd8	C	T	14: 52,448,012 (GRCm39)	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Exo5	G	A	4: 120,779,560 (GRCm39)	L102F	probably benign	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Pkn3	G	A	2: 29,976,513 (GRCm39)		probably null	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,302,876 (GRCm39)	S42P	probably benign	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly damaging	Het

Other mutations in Bach2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01749:Bach2	APN	4	32,580,261 (GRCm39)	missense	probably damaging	1.00
IGL02137:Bach2	APN	4	32,501,621 (GRCm39)	start gained	probably benign
IGL02281:Bach2	APN	4	32,562,513 (GRCm39)	missense	possibly damaging	0.78
IGL02333:Bach2	APN	4	32,575,334 (GRCm39)	nonsense	probably null
IGL02369:Bach2	APN	4	32,579,975 (GRCm39)	missense	possibly damaging	0.85
IGL02533:Bach2	APN	4	32,562,451 (GRCm39)	missense	probably benign	0.00
Magnificat	UTSW	4	32,563,324 (GRCm39)	missense	probably damaging	1.00
R0011:Bach2	UTSW	4	32,244,655 (GRCm39)	intron	probably benign
R1240:Bach2	UTSW	4	32,563,198 (GRCm39)	missense	probably damaging	1.00
R1501:Bach2	UTSW	4	32,562,279 (GRCm39)	missense	possibly damaging	0.86
R2004:Bach2	UTSW	4	32,580,055 (GRCm39)	missense	probably benign	0.36
R2171:Bach2	UTSW	4	32,501,662 (GRCm39)	missense	probably damaging	0.97
R3827:Bach2	UTSW	4	32,563,150 (GRCm39)	missense	probably damaging	1.00
R3829:Bach2	UTSW	4	32,563,150 (GRCm39)	missense	probably damaging	1.00
R3830:Bach2	UTSW	4	32,563,150 (GRCm39)	missense	probably damaging	1.00
R4564:Bach2	UTSW	4	32,563,338 (GRCm39)	missense	probably damaging	1.00
R4660:Bach2	UTSW	4	32,562,777 (GRCm39)	missense	probably benign
R5132:Bach2	UTSW	4	32,563,396 (GRCm39)	intron	probably benign
R5307:Bach2	UTSW	4	32,562,683 (GRCm39)	missense	probably benign	0.11
R5491:Bach2	UTSW	4	32,562,681 (GRCm39)	missense	probably damaging	1.00
R5860:Bach2	UTSW	4	32,580,268 (GRCm39)	missense	probably damaging	1.00
R5983:Bach2	UTSW	4	32,563,324 (GRCm39)	missense	probably damaging	1.00
R6331:Bach2	UTSW	4	32,238,816 (GRCm39)	start gained	probably benign
R6770:Bach2	UTSW	4	32,575,240 (GRCm39)	missense	possibly damaging	0.81
R6806:Bach2	UTSW	4	32,575,301 (GRCm39)	missense	possibly damaging	0.66
R7146:Bach2	UTSW	4	32,562,670 (GRCm39)	missense	probably damaging	1.00
R7691:Bach2	UTSW	4	32,580,271 (GRCm39)	missense	probably damaging	1.00
R8062:Bach2	UTSW	4	32,562,937 (GRCm39)	missense	probably damaging	1.00
R8192:Bach2	UTSW	4	32,562,294 (GRCm39)	missense	probably benign	0.04
R8435:Bach2	UTSW	4	32,501,682 (GRCm39)	missense	possibly damaging	0.82
R8829:Bach2	UTSW	4	32,562,028 (GRCm39)	missense	probably damaging	0.96
R8854:Bach2	UTSW	4	32,575,263 (GRCm39)	missense	possibly damaging	0.93
R9329:Bach2	UTSW	4	32,562,175 (GRCm39)	missense	possibly damaging	0.92
R9739:Bach2	UTSW	4	32,563,042 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAGAAGAAGCCCTGCTC -3'
(R):5'- TTATACCGAACAGAGACCGCAG -3'

Sequencing Primer
(F):5'- TGCTCCCTGAGTCTGAGGTAC -3'
(R):5'- GACACACTCCTGGACCTGTC -3'

Posted On

2020-10-20