Mutagenetix > Incidental Mutations

Incidental Mutation 'R2495:Bcl11b'

251006

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

MMRRC Submission

040409-MU

Accession Numbers

Genbank: NM_001079883; MGI: 1929913

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2495 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

107910403-108003602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107915447 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 798 (H798Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105517 (fasta)

Gene Model

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

AlphaFold

Q99PV8

Predicted Effect

probably benign
Transcript: ENSMUST00000066060
AA Change: H870Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: H870Y

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

unknown
Transcript: ENSMUST00000109887
AA Change: H676Y

SMART Domains

Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: H676Y

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: H798Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: H798Y

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

0.1430

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970		probably null	Het
Agbl3	A	G	6: 34,846,764	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Capn11	T	A	17: 45,638,763	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776		probably benign	Het
Cnbd1	A	T	4: 18,860,579	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097		probably null	Het
Dido1	A	G	2: 180,689,388	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990		probably benign	Het
Mmp19	A	G	10: 128,790,950		probably benign	Het
Msc	T	G	1: 14,755,249	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078		probably benign	Het
Ralgapa2	G	T	2: 146,361,400	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312		probably benign	Het
Rfx6	A	C	10: 51,726,675		probably benign	Het
Rras	G	A	7: 45,018,064	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trnt1	T	A	6: 106,773,369	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724		probably null	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
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
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'- AGACACAGGTTAGGCTGGAC -3'
(R):5'- ACTGTAGCAACCTGACGGTG -3'

Sequencing Primer
(F):5'- GACTGCCGCCTCCCTGG -3'
(R):5'- CGGAGGAGCCACACCGG -3'

Posted On

2014-12-04