Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Bcl11b'

298643

Institutional Source

Australian Phenomics Network (link to record)

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

107910403-108003602 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 107915394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105517 (fasta)

Gene Model

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

AlphaFold

Q99PV8

Predicted Effect

probably benign
Transcript: ENSMUST00000066060

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,687,070	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,285,172	D1914G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col24a1	A	T	3: 145,314,173	I102F	probably benign	Het
Col7a1	C	T	9: 108,973,216	R2063C	unknown	Het
Ddo	T	A	10: 40,647,521	L169Q	probably damaging	Het
Defb4	G	T	8: 19,201,297	C60F	probably damaging	Het
Dock9	A	T	14: 121,625,147		probably benign	Het
Dysf	A	T	6: 84,067,446		probably benign	Het
Fasn	G	A	11: 120,809,066	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,722,164	D355G	probably benign	Het
Gak	C	T	5: 108,584,232	E797K	probably null	Het
Gm10654	T	C	8: 70,932,130		noncoding transcript	Het
Gnas	T	C	2: 174,341,936		probably benign	Het
Hdac3	A	G	18: 37,954,891	F8S	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Hrh4	T	C	18: 13,007,244		probably null	Het
Klhl1	A	G	14: 96,151,960	V586A	possibly damaging	Het
Lct	T	C	1: 128,294,266	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,447,740	N128K	probably benign	Het
Mndal	T	C	1: 173,872,920	T162A	probably benign	Het
Myh3	A	G	11: 67,101,095	E1822G	possibly damaging	Het
Mylpf	A	G	7: 127,214,143	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,159,953	A767T	probably benign	Het
Olfr1404	T	C	1: 173,216,521	V290A	probably damaging	Het
Olfr221	A	G	14: 52,036,007	Y35H	probably damaging	Het
Olfr666	T	A	7: 104,892,954	R225W	probably benign	Het
Paics	A	G	5: 76,964,604	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,848	Q1296K	probably benign	Het
Ppil2	T	C	16: 17,109,651	K26E	possibly damaging	Het
Rufy1	A	G	11: 50,420,483	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,749,305	E93V	probably damaging	Het
Slamf1	T	A	1: 171,767,258	I11K	possibly damaging	Het
Slc5a5	C	T	8: 70,890,271	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,921,788	V473D	probably benign	Het
Slit1	A	G	19: 41,721,085	V123A	probably benign	Het
Srgap2	A	C	1: 131,524,936		probably null	Het
Stk32c	T	C	7: 139,120,690	M208V	probably benign	Het
Syt15	T	C	14: 34,221,803	V103A	probably benign	Het
Tacc2	T	A	7: 130,759,267	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,724,654		probably benign	Het
Tepsin	G	T	11: 120,096,905	D62E	probably benign	Het
Thap3	T	C	4: 151,983,687	D106G	probably benign	Het
Ttn	T	C	2: 76,786,217	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,639,590	N39S	possibly damaging	Het
Ubxn11	A	G	4: 134,124,943	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,052,180	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,592,186	T22A	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
IGL02950:Bcl11b	APN	12	107989806	missense	probably benign	0.00
Acidophilus	UTSW	12	107917303	missense	probably damaging	1.00
Activia	UTSW	12	108003143	start codon destroyed	probably benign	0.21
hyphae	UTSW	12	107916001	missense	probably benign	0.01
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
R5190:Bcl11b	UTSW	12	107989716	missense	probably damaging	1.00
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
R8783:Bcl11b	UTSW	12	107917303	missense	probably damaging	1.00
R8914:Bcl11b	UTSW	12	107916904	missense	probably damaging	0.98
R9281:Bcl11b	UTSW	12	107915998	missense	possibly damaging	0.96
R9566:Bcl11b	UTSW	12	107915525	missense	possibly damaging	0.93
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

Posted On

2015-04-16