Mutagenetix > Incidental Mutation

Incidental Mutation 'R7026:Bcl11b'

545985

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

045127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107876662-107969861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107882851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 488 (D488G)

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: D488G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: D488G

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

possibly damaging
Transcript: ENSMUST00000109887
AA Change: D294G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: D294G

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: D416G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: D416G

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

0.1323

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,805,392 (GRCm39)	M749L	probably benign	Het
Abcc2	A	G	19: 43,818,974 (GRCm39)	N1321S	probably benign	Het
Acsm2	T	A	7: 119,191,450 (GRCm39)	V506E	probably damaging	Het
Add2	G	A	6: 86,063,965 (GRCm39)	R88Q	probably benign	Het
Adgra3	A	G	5: 50,118,083 (GRCm39)	V1155A	probably benign	Het
Ahsg	T	A	16: 22,710,963 (GRCm39)	D33E	probably damaging	Het
Alox12b	A	T	11: 69,048,131 (GRCm39)	D20V	possibly damaging	Het
Alppl2	A	G	1: 87,017,420 (GRCm39)		probably null	Het
Ankfn1	A	G	11: 89,530,403 (GRCm39)	*49Q	probably null	Het
Bcl2l10	T	A	9: 75,258,364 (GRCm39)	F175L	probably benign	Het
C2cd3	T	A	7: 100,081,299 (GRCm39)	D127E	probably damaging	Het
Cacna1c	C	T	6: 118,614,732 (GRCm39)	V1311I	probably damaging	Het
Cd55b	A	T	1: 130,316,427 (GRCm39)	I374K	probably benign	Het
Cfap36	T	C	11: 29,172,565 (GRCm39)	T267A	probably benign	Het
Cibar2	G	A	8: 120,895,324 (GRCm39)	H193Y	probably damaging	Het
Cog1	T	C	11: 113,540,415 (GRCm39)	L10P	probably damaging	Het
Dnah7a	T	A	1: 53,543,448 (GRCm39)	M2241L	probably benign	Het
Dock10	G	T	1: 80,479,504 (GRCm39)	A1809E	probably benign	Het
Dock7	A	T	4: 98,967,156 (GRCm39)	D255E	probably benign	Het
Exph5	T	C	9: 53,251,728 (GRCm39)	F123L	probably benign	Het
Fbxw27	C	A	9: 109,617,146 (GRCm39)	K118N	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Get4	C	T	5: 139,238,358 (GRCm39)	R47W	possibly damaging	Het
Gm3676	G	A	14: 41,366,072 (GRCm39)	S81F	probably benign	Het
Gulp1	C	T	1: 44,820,245 (GRCm39)	P251S	possibly damaging	Het
Hhatl	T	C	9: 121,617,339 (GRCm39)	D298G	probably benign	Het
Hsf2bp	T	A	17: 32,252,254 (GRCm39)	K60N	possibly damaging	Het
Ints4	T	A	7: 97,168,361 (GRCm39)	V625D	possibly damaging	Het
Iqch	T	A	9: 63,432,421 (GRCm39)	K286*	probably null	Het
Irak1bp1	T	A	9: 82,712,084 (GRCm39)	S2T	possibly damaging	Het
Kdm3b	G	A	18: 34,955,517 (GRCm39)	V1135I	possibly damaging	Het
Lama3	C	A	18: 12,649,605 (GRCm39)	N181K	probably damaging	Het
Lrfn2	T	G	17: 49,404,005 (GRCm39)	S709R	probably benign	Het
Lrp12	T	C	15: 39,743,566 (GRCm39)	H123R	probably damaging	Het
Lrp1b	A	G	2: 41,159,234 (GRCm39)	S1569P	probably damaging	Het
Lrp2	T	G	2: 69,352,131 (GRCm39)	Q635P	probably damaging	Het
Mboat2	T	C	12: 24,998,381 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,954,378 (GRCm39)	T596A	probably benign	Het
Mroh9	T	A	1: 162,888,251 (GRCm39)	M275L	probably benign	Het
Ms4a10	A	C	19: 10,944,869 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,722,617 (GRCm39)	R560C	probably damaging	Het
Or11h4b	A	G	14: 50,918,716 (GRCm39)	I125T	probably damaging	Het
Or5b107	A	G	19: 13,142,779 (GRCm39)	T134A	probably benign	Het
Or6z1	T	A	7: 6,504,820 (GRCm39)	H135L	probably damaging	Het
Ormdl3	A	G	11: 98,474,808 (GRCm39)	V45A	possibly damaging	Het
Parp4	T	C	14: 56,858,049 (GRCm39)	Y894H	probably benign	Het
Pigo	G	A	4: 43,023,380 (GRCm39)	Q259*	probably null	Het
Prrc2a	G	A	17: 35,380,803 (GRCm39)	P70S	unknown	Het
Rab3ip	A	G	10: 116,773,441 (GRCm39)	I124T	probably benign	Het
Rap1b	A	G	10: 117,654,384 (GRCm39)	I21T	probably benign	Het
Rasgrf2	T	A	13: 92,131,732 (GRCm39)	S642C	probably damaging	Het
Rb1	T	C	14: 73,535,539 (GRCm39)	E106G	probably benign	Het
Reps1	C	A	10: 17,983,437 (GRCm39)	R427S	probably damaging	Het
Rnf213	A	C	11: 119,370,481 (GRCm39)	H4760P	possibly damaging	Het
Rtl1	A	G	12: 109,559,595 (GRCm39)	I748T	probably damaging	Het
Sco1	A	T	11: 66,944,683 (GRCm39)	K102M	probably damaging	Het
Sec16b	T	C	1: 157,362,281 (GRCm39)	M44T	possibly damaging	Het
Slc7a10	T	C	7: 34,898,139 (GRCm39)	M297T	probably damaging	Het
Smchd1	T	C	17: 71,656,662 (GRCm39)	H1935R	probably benign	Het
Sowaha	G	A	11: 53,370,050 (GRCm39)	R229W	probably damaging	Het
Sptlc3	A	T	2: 139,379,608 (GRCm39)	M83L	probably benign	Het
Tbc1d9	T	C	8: 83,968,192 (GRCm39)	V431A	probably benign	Het
Tmem98	A	G	11: 80,712,214 (GRCm39)	E217G	possibly damaging	Het
Trim13	T	A	14: 61,842,562 (GRCm39)	L193*	probably null	Het
Trp53bp2	T	C	1: 182,270,300 (GRCm39)	S367P	probably benign	Het
Tsc2	T	G	17: 24,845,713 (GRCm39)	I202L	probably damaging	Het
Twf2	T	A	9: 106,092,079 (GRCm39)	V312E	probably damaging	Het
Usp34	G	T	11: 23,311,622 (GRCm39)	L471F	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het
Zfp1010	T	A	2: 176,957,361 (GRCm39)	I46F	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
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'- AGTCCATGCTGAAGCTCGAC -3'
(R):5'- CCAAGAGCAAGTCCTGTGAG -3'

Sequencing Primer
(F):5'- ATGCTGAAGCTCGACTCAGG -3'
(R):5'- CAAGAGCAAGTCCTGTGAGTTCTG -3'

Posted On

2019-05-13