Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Bcl11b'

572111

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

045454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107876662-107969861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107955750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 133 (I133N)

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: I133N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: I133N

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

possibly damaging
Transcript: ENSMUST00000109891
AA Change: I133N

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: I133N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,725,683 (GRCm39)	S807G	probably benign	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fgb	T	C	3: 82,953,359 (GRCm39)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Il2ra	T	A	2: 11,647,831 (GRCm39)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm39)	P1005T	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Urb2	C	A	8: 124,755,008 (GRCm39)	D238E	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	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
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
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'- ACAACAGTCAGGTCTTCTTCAC -3'
(R):5'- TCAGATGAACTTCCCGCTGG -3'

Sequencing Primer
(F):5'- TGTCTTCCCCGGAGAGTCAC -3'
(R):5'- GGACATCCTGGTTTTTATAGAGCAC -3'

Posted On

2019-09-13