Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Bcl11b'

344753

Institutional Source

Beutler Lab

Gene Symbol

Bcl11b

Ensembl Gene

ENSMUSG00000048251

Gene Name

B cell leukemia/lymphoma 11B

Synonyms

COUP-TF interacting protein 2, Rit1, CTIP2, B630002E05Rik, 9130430L19Rik

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4611 (G1)

Quality Score

104

Status

Not validated

Chromosome

Chromosomal Location

107876662-107969861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107882789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 509 (K509E)

Ref Sequence

ENSEMBL: ENSMUSP00000068258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]

AlphaFold

Q99PV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000066060
AA Change: K509E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: K509E

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
Blast:ZnF_C2H2	56	81	5e-10	BLAST
low complexity region	95	113	N/A	INTRINSIC
ZnF_C2H2	221	244	1.16e-1	SMART
low complexity region	311	330	N/A	INTRINSIC
ZnF_C2H2	426	448	6.23e-2	SMART
ZnF_C2H2	454	476	2.75e-3	SMART
low complexity region	519	551	N/A	INTRINSIC
low complexity region	566	593	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	639	656	N/A	INTRINSIC
low complexity region	659	675	N/A	INTRINSIC
low complexity region	743	765	N/A	INTRINSIC
ZnF_C2H2	786	808	1.41e0	SMART
ZnF_C2H2	814	836	4.24e-4	SMART
ZnF_C2H2	844	867	3.07e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109887
AA Change: K315E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: K315E

Domain	Start	End	E-Value	Type
ZnF_C2H2	27	50	1.16e-1	SMART
low complexity region	117	136	N/A	INTRINSIC
ZnF_C2H2	232	254	6.23e-2	SMART
ZnF_C2H2	260	282	2.75e-3	SMART
low complexity region	325	357	N/A	INTRINSIC
low complexity region	372	399	N/A	INTRINSIC
low complexity region	423	442	N/A	INTRINSIC
low complexity region	445	462	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC
low complexity region	549	571	N/A	INTRINSIC
ZnF_C2H2	592	614	1.41e0	SMART
ZnF_C2H2	620	642	4.24e-4	SMART
ZnF_C2H2	650	673	3.07e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109891
AA Change: K437E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: K437E

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
Pfam:zf-C2H2_6	55	83	3.9e-9	PFAM
low complexity region	95	113	N/A	INTRINSIC
ZnF_C2H2	149	172	1.16e-1	SMART
low complexity region	239	258	N/A	INTRINSIC
ZnF_C2H2	354	376	6.23e-2	SMART
ZnF_C2H2	382	404	2.75e-3	SMART
low complexity region	447	479	N/A	INTRINSIC
low complexity region	494	521	N/A	INTRINSIC
low complexity region	545	564	N/A	INTRINSIC
low complexity region	567	584	N/A	INTRINSIC
low complexity region	587	603	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
ZnF_C2H2	714	736	1.41e0	SMART
ZnF_C2H2	742	764	4.24e-4	SMART
ZnF_C2H2	772	795	3.07e-1	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Animals homozygous for a mutation of this gene are born with open eyes, exhibit abnormalities of the thymus, and die within 1 day after birth. Mice heterozygous for a hypomorphic allele and a knock-out allele exhibit lethality at weaning due to maxillaryincisor hyperplasia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	probably damaging	Het

Other mutations in Bcl11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Bcl11b	APN	12	107,932,074 (GRCm39)	missense	possibly damaging	0.46
IGL02492:Bcl11b	APN	12	107,881,945 (GRCm39)	missense	probably damaging	0.98
IGL02559:Bcl11b	APN	12	107,881,653 (GRCm39)	utr 3 prime	probably benign
IGL02950:Bcl11b	APN	12	107,956,065 (GRCm39)	missense	probably benign	0.00
Acidophilus	UTSW	12	107,883,562 (GRCm39)	missense	probably damaging	1.00
Activia	UTSW	12	107,969,402 (GRCm39)	start codon destroyed	probably benign	0.21
hyphae	UTSW	12	107,882,260 (GRCm39)	missense	probably benign	0.01
R0055:Bcl11b	UTSW	12	107,932,036 (GRCm39)	missense	probably benign	0.02
R0762:Bcl11b	UTSW	12	107,931,922 (GRCm39)	intron	probably benign
R1549:Bcl11b	UTSW	12	107,883,422 (GRCm39)	missense	probably damaging	0.97
R1682:Bcl11b	UTSW	12	107,882,908 (GRCm39)	missense	probably damaging	1.00
R2269:Bcl11b	UTSW	12	107,881,910 (GRCm39)	missense	possibly damaging	0.71
R2495:Bcl11b	UTSW	12	107,881,706 (GRCm39)	missense	possibly damaging	0.46
R3053:Bcl11b	UTSW	12	107,882,260 (GRCm39)	missense	probably benign	0.01
R4094:Bcl11b	UTSW	12	107,883,094 (GRCm39)	missense	probably damaging	1.00
R4095:Bcl11b	UTSW	12	107,883,094 (GRCm39)	missense	probably damaging	1.00
R4155:Bcl11b	UTSW	12	107,883,684 (GRCm39)	splice site	probably null
R4156:Bcl11b	UTSW	12	107,883,684 (GRCm39)	splice site	probably null
R4157:Bcl11b	UTSW	12	107,883,684 (GRCm39)	splice site	probably null
R4900:Bcl11b	UTSW	12	107,955,957 (GRCm39)	missense	probably damaging	1.00
R4906:Bcl11b	UTSW	12	107,882,968 (GRCm39)	missense	probably damaging	1.00
R4982:Bcl11b	UTSW	12	107,932,031 (GRCm39)	nonsense	probably null
R5108:Bcl11b	UTSW	12	107,931,985 (GRCm39)	missense	probably benign	0.04
R5190:Bcl11b	UTSW	12	107,955,975 (GRCm39)	missense	probably damaging	1.00
R6380:Bcl11b	UTSW	12	107,969,360 (GRCm39)	missense	probably benign	0.20
R6423:Bcl11b	UTSW	12	107,881,678 (GRCm39)	missense	possibly damaging	0.82
R6792:Bcl11b	UTSW	12	107,955,993 (GRCm39)	missense	probably damaging	1.00
R7026:Bcl11b	UTSW	12	107,882,851 (GRCm39)	missense	probably damaging	0.99
R7074:Bcl11b	UTSW	12	107,955,766 (GRCm39)	missense	probably benign	0.01
R7371:Bcl11b	UTSW	12	107,955,750 (GRCm39)	missense	probably damaging	1.00
R7454:Bcl11b	UTSW	12	107,882,467 (GRCm39)	missense	possibly damaging	0.93
R7590:Bcl11b	UTSW	12	107,969,402 (GRCm39)	start codon destroyed	probably benign	0.21
R8005:Bcl11b	UTSW	12	107,882,456 (GRCm39)	missense	probably benign
R8131:Bcl11b	UTSW	12	107,931,967 (GRCm39)	missense	probably benign
R8783:Bcl11b	UTSW	12	107,883,562 (GRCm39)	missense	probably damaging	1.00
R8914:Bcl11b	UTSW	12	107,883,163 (GRCm39)	missense	probably damaging	0.98
R9281:Bcl11b	UTSW	12	107,882,257 (GRCm39)	missense	possibly damaging	0.96
R9566:Bcl11b	UTSW	12	107,881,784 (GRCm39)	missense	possibly damaging	0.93
X0018:Bcl11b	UTSW	12	107,955,948 (GRCm39)	missense	probably damaging	1.00
X0021:Bcl11b	UTSW	12	107,883,136 (GRCm39)	missense	probably damaging	0.97
Z1177:Bcl11b	UTSW	12	107,955,999 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACGTTCTCAGATGGGATGAGG -3'
(R):5'- AGAAGCCCTACAAGTGCCAG -3'

Sequencing Primer
(F):5'- TGCACGCTTCAGGAAGG -3'
(R):5'- TACAAGTGCCAGCTGTGC -3'

Posted On

2015-09-25