Mutagenetix > Incidental Mutations

Incidental Mutation 'R5190:Bcl11b'

398069

Institutional Source

Beutler Lab

Gene Symbol

Bcl11b

Ensembl Gene

ENSMUSG00000048251

Gene Name

B cell leukemia/lymphoma 11B

Synonyms

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

Accession Numbers

Genbank: NM_001079883; MGI: 1929913

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107910403-108003602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107989716 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 58 (C58F)

Ref Sequence

ENSEMBL: ENSMUSP00000105517 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066060
AA Change: C58F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: C58F

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 damaging
Transcript: ENSMUST00000109891
AA Change: C58F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: C58F

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca7	T	C	10: 79,999,593		probably null	Het
Abca8a	C	T	11: 110,089,909		probably null	Het
Ablim3	A	G	18: 61,819,911	Y361H	probably benign	Het
Acan	C	T	7: 79,098,541	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652	L218P	probably damaging	Het
Cand2	G	T	6: 115,789,513	A360S	probably damaging	Het
Cdh2	A	G	18: 16,650,315	V62A	possibly damaging	Het
Cep44	C	T	8: 56,532,796	V354I	probably benign	Het
Col3a1	G	A	1: 45,329,084	R309Q	unknown	Het
Col3a1	G	A	1: 45,344,807		probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crtac1	A	G	19: 42,333,908	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,174,525	V1706A	probably benign	Het
Dopey1	A	G	9: 86,487,304	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,715	D214G	probably benign	Het
Fam216a	T	A	5: 122,367,521		probably null	Het
Fdxacb1	A	C	9: 50,772,087	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
Helz2	A	T	2: 181,230,757		probably null	Het
Itgam	T	C	7: 128,116,317		probably null	Het
Kcnh1	A	G	1: 192,505,528	S766G	probably benign	Het
Klra1	C	A	6: 130,375,278	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,597,982	T25S	probably benign	Het
Mapk6	T	C	9: 75,388,344	Y624C	probably damaging	Het
Olfr1123	A	G	2: 87,418,843	Y263C	probably damaging	Het
Olfr1158	T	A	2: 87,990,763	Y217*	probably null	Het
Olfr1393	T	C	11: 49,280,382	V78A	probably damaging	Het
Olfr51	T	G	11: 51,007,554	I194S	probably damaging	Het
Olfr677	C	T	7: 105,056,453	S69L	probably damaging	Het
P3h2	A	G	16: 25,984,949	S356P	possibly damaging	Het
Pde12	C	T	14: 26,666,377		probably null	Het
Rln3	T	G	8: 84,043,237	K94N	probably damaging	Het
Skint5	T	C	4: 113,763,514	I668V	unknown	Het
Slitrk5	C	A	14: 111,679,420	Q159K	probably damaging	Het
Trim3	G	T	7: 105,619,509	N79K	probably damaging	Het
Tyw1	T	A	5: 130,267,915	C101*	probably null	Het
Ulk2	T	C	11: 61,781,711	T934A	probably benign	Het
Unc5b	T	C	10: 60,772,293	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,278,386	R9*	probably null	Het
Zfc3h1	T	G	10: 115,418,692	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,577,407	V9A	probably benign	Het
Zfp423	T	A	8: 87,782,463	S397C	probably damaging	Het

Other mutations in Bcl11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Bcl11b	APN	12	107965815	missense	possibly damaging	0.46
IGL02492:Bcl11b	APN	12	107915686	missense	probably damaging	0.98
IGL02559:Bcl11b	APN	12	107915394	utr 3 prime	probably benign
IGL02950:Bcl11b	APN	12	107989806	missense	probably benign	0.00
Activia	UTSW	12	108003143	start codon destroyed	probably benign	0.21
R0055:Bcl11b	UTSW	12	107965777	missense	probably benign	0.02
R0762:Bcl11b	UTSW	12	107965663	intron	probably benign
R1549:Bcl11b	UTSW	12	107917163	missense	probably damaging	0.97
R1682:Bcl11b	UTSW	12	107916649	missense	probably damaging	1.00
R2269:Bcl11b	UTSW	12	107915651	missense	possibly damaging	0.71
R2495:Bcl11b	UTSW	12	107915447	missense	possibly damaging	0.46
R3053:Bcl11b	UTSW	12	107916001	missense	probably benign	0.01
R4094:Bcl11b	UTSW	12	107916835	missense	probably damaging	1.00
R4095:Bcl11b	UTSW	12	107916835	missense	probably damaging	1.00
R4155:Bcl11b	UTSW	12	107917425	splice site	probably null
R4156:Bcl11b	UTSW	12	107917425	splice site	probably null
R4157:Bcl11b	UTSW	12	107917425	splice site	probably null
R4611:Bcl11b	UTSW	12	107916530	missense	probably damaging	0.97
R4900:Bcl11b	UTSW	12	107989698	missense	probably damaging	1.00
R4906:Bcl11b	UTSW	12	107916709	missense	probably damaging	1.00
R4982:Bcl11b	UTSW	12	107965772	nonsense	probably null
R5108:Bcl11b	UTSW	12	107965726	missense	probably benign	0.04
R6380:Bcl11b	UTSW	12	108003101	missense	probably benign	0.20
R6423:Bcl11b	UTSW	12	107915419	missense	possibly damaging	0.82
R6792:Bcl11b	UTSW	12	107989734	missense	probably damaging	1.00
R7026:Bcl11b	UTSW	12	107916592	missense	probably damaging	0.99
R7074:Bcl11b	UTSW	12	107989507	missense	probably benign	0.01
R7371:Bcl11b	UTSW	12	107989491	missense	probably damaging	1.00
R7454:Bcl11b	UTSW	12	107916208	missense	possibly damaging	0.93
R7590:Bcl11b	UTSW	12	108003143	start codon destroyed	probably benign	0.21
R8005:Bcl11b	UTSW	12	107916197	missense	probably benign
R8131:Bcl11b	UTSW	12	107965708	missense	probably benign
X0018:Bcl11b	UTSW	12	107989689	missense	probably damaging	1.00
X0021:Bcl11b	UTSW	12	107916877	missense	probably damaging	0.97
Z1177:Bcl11b	UTSW	12	107989740	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTGACAGTAGGTGGTCATC -3'
(R):5'- AAGGAACCAGTCTGTGATGACC -3'

Sequencing Primer
(F):5'- ACAGTAGGTGGTCATCTTCATCAG -3'
(R):5'- AGTCTGTGATGACCTAAGCCC -3'

Posted On

2016-07-06