Mutagenetix > Incidental Mutation

Incidental Mutation 'R5108:Bcl11b'

393694

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

042696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107876662-107969861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107931985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 196 (T196A)

Ref Sequence

ENSEMBL: ENSMUSP00000068258 (fasta)

Gene Model

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

AlphaFold

Q99PV8

Predicted Effect

probably benign
Transcript: ENSMUST00000066060
AA Change: T196A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: T196A

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

probably benign
Transcript: ENSMUST00000109887

SMART Domains

Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251

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

probably benign
Transcript: ENSMUST00000109891

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251

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

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,207 (GRCm39)	N94Y	probably damaging	Het
Ak2	A	G	4: 128,896,034 (GRCm39)	T104A	probably damaging	Het
Alox12b	G	T	11: 69,048,208 (GRCm39)	A46S	probably benign	Het
Ank1	G	T	8: 23,622,571 (GRCm39)	V1662F	probably benign	Het
Anxa3	T	C	5: 96,978,273 (GRCm39)	I219T	possibly damaging	Het
Aoc1l3	C	T	6: 48,965,504 (GRCm39)	T504I	probably damaging	Het
Arhgap40	G	A	2: 158,389,599 (GRCm39)	V588M	probably damaging	Het
Arhgef38	T	C	3: 132,843,029 (GRCm39)	T514A	probably benign	Het
Ascl4	C	A	10: 85,764,422 (GRCm39)	A23E	probably benign	Het
C1ra	A	T	6: 124,499,881 (GRCm39)	Y689F	probably damaging	Het
Ccr3	A	G	9: 123,828,968 (GRCm39)	N101S	probably benign	Het
Cep70	A	T	9: 99,145,865 (GRCm39)		probably null	Het
Ces1b	A	G	8: 93,798,541 (GRCm39)	V215A	probably damaging	Het
Cndp1	A	T	18: 84,650,186 (GRCm39)	I169N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,486 (GRCm39)	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,243,020 (GRCm39)	N133S	probably damaging	Het
Fzr1	C	T	10: 81,205,284 (GRCm39)		probably benign	Het
Grn	T	C	11: 102,325,228 (GRCm39)	S213P	probably benign	Het
Ifi203	A	T	1: 173,751,580 (GRCm39)	C414S	probably damaging	Het
Igfn1	C	T	1: 135,910,179 (GRCm39)	R135H	probably benign	Het
Kcnk10	T	C	12: 98,401,560 (GRCm39)	M358V	probably benign	Het
Kcnn2	A	T	18: 45,725,122 (GRCm39)	Y471F	probably damaging	Het
Klhl20	A	T	1: 160,926,820 (GRCm39)	V391E	probably damaging	Het
Krt1c	C	T	15: 101,721,721 (GRCm39)	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,623,716 (GRCm39)	Y223N	probably benign	Het
Luzp2	G	A	7: 54,915,038 (GRCm39)	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,338,536 (GRCm39)	V1388A	probably benign	Het
Mdga2	A	T	12: 66,533,515 (GRCm39)	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,468,961 (GRCm39)	P361Q	probably benign	Het
Mylk3	A	T	8: 86,085,721 (GRCm39)	I208N	possibly damaging	Het
Myom2	T	A	8: 15,182,667 (GRCm39)	V1368E	probably damaging	Het
Mypn	C	T	10: 62,972,073 (GRCm39)	D656N	probably damaging	Het
Nat10	C	A	2: 103,562,548 (GRCm39)	R596L	probably damaging	Het
Nek8	T	C	11: 78,063,353 (GRCm39)	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,246,074 (GRCm39)	K552E	probably damaging	Het
Npdc1	C	T	2: 25,298,667 (GRCm39)	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,876,129 (GRCm39)	I581F	probably damaging	Het
Or8d23	T	A	9: 38,842,151 (GRCm39)	I228N	probably damaging	Het
P2rx6	T	C	16: 17,380,037 (GRCm39)	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,486,216 (GRCm39)	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,620,855 (GRCm39)	V892I	probably benign	Het
Pdss1	T	A	2: 22,796,895 (GRCm39)	V136E	possibly damaging	Het
Pias3	T	C	3: 96,612,253 (GRCm39)	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,013,453 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Sec24d	T	A	3: 123,099,434 (GRCm39)		probably null	Het
Sftpb	T	G	6: 72,281,640 (GRCm39)	L11R	probably damaging	Het
Slc22a19	A	G	19: 7,688,536 (GRCm39)	I8T	probably benign	Het
Slc22a30	A	G	19: 8,363,790 (GRCm39)	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,050,214 (GRCm39)	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,644,331 (GRCm39)	M976I	probably damaging	Het
Smcr8	C	T	11: 60,670,696 (GRCm39)	Q615*	probably null	Het
Sobp	T	C	10: 43,036,815 (GRCm39)	E41G	probably damaging	Het
Spopfm1	C	T	3: 94,173,142 (GRCm39)	S50L	probably damaging	Het
Spz1	A	T	13: 92,711,554 (GRCm39)	C307*	probably null	Het
Sult1d1	C	T	5: 87,711,728 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,668 (GRCm39)	M233T	probably damaging	Het
Tmc3	C	A	7: 83,269,156 (GRCm39)	S781R	probably damaging	Het
Tmem234	G	T	4: 129,495,730 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,882,078 (GRCm39)	Q645L	probably benign	Het
Ttn	C	A	2: 76,565,055 (GRCm39)	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,650,016 (GRCm39)	A425S	probably benign	Het
Ubr1	C	T	2: 120,793,903 (GRCm39)	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026 (GRCm39)		probably null	Het
Utp20	T	C	10: 88,604,735 (GRCm39)	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,186,901 (GRCm39)	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,613,519 (GRCm39)	I265T	probably benign	Het
Zfp120	T	C	2: 149,961,862 (GRCm39)	T29A	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
R4611:Bcl11b	UTSW	12	107,882,789 (GRCm39)	missense	probably damaging	0.97
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
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'- CAGTTGACATCTTTGGCACTTC -3'
(R):5'- TCAAGTCCCTTGTGCAGTCC -3'

Sequencing Primer
(F):5'- CACCCCGAAAAGCTTTTTGAGTG -3'
(R):5'- GGCACCACTGACCAGTCTTTTC -3'

Posted On

2016-06-15