Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Bcl11a'

94504

Institutional Source

Beutler Lab

Gene Symbol

Bcl11a

Ensembl Gene

ENSMUSG00000000861

Gene Name

B cell CLL/lymphoma 11A (zinc finger protein)

Synonyms

2810047E18Rik, Evi9c, Evi9, Evi9b, Evi9a, COUP-TF interacting protein 1, D930021L15Rik, CTIP1, mouse myeloid leukemia gene

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24078056-24174123 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24164069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 471 (K471*)

Ref Sequence

ENSEMBL: ENSMUSP00000105140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000881] [ENSMUST00000109514] [ENSMUST00000109516] [ENSMUST00000118955]

AlphaFold

Q9QYE3

Predicted Effect

probably null
Transcript: ENSMUST00000000881
AA Change: K471*

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: K471*

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_6	45	73	5.9e-9	PFAM
ZnF_C2H2	170	193	7.15e-2	SMART
low complexity region	258	274	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
low complexity region	352	373	N/A	INTRINSIC
ZnF_C2H2	377	399	6.23e-2	SMART
ZnF_C2H2	405	427	1.69e-3	SMART
low complexity region	456	472	N/A	INTRINSIC
coiled coil region	481	513	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
low complexity region	682	696	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109514
AA Change: K471*

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: K471*

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	46	72	8e-10	BLAST
ZnF_C2H2	170	193	7.15e-2	SMART
low complexity region	258	274	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
low complexity region	352	373	N/A	INTRINSIC
ZnF_C2H2	377	399	6.23e-2	SMART
ZnF_C2H2	405	427	1.69e-3	SMART
low complexity region	456	472	N/A	INTRINSIC
coiled coil region	481	513	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
low complexity region	682	696	N/A	INTRINSIC
low complexity region	708	731	N/A	INTRINSIC
ZnF_C2H2	742	764	1.41e0	SMART
ZnF_C2H2	770	792	4.24e-4	SMART
ZnF_C2H2	800	823	3.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109516

SMART Domains

Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_6	45	73	3.2e-8	PFAM
ZnF_C2H2	170	193	7.15e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118955

SMART Domains

Protein: ENSMUSP00000112948
Gene: ENSMUSG00000000861

Domain	Start	End	E-Value	Type
ZnF_C2H2	118	141	7.15e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146717

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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 by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	probably damaging	Het

Other mutations in Bcl11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Bcl11a	APN	11	24163346	missense	probably benign	0.00
IGL03190:Bcl11a	APN	11	24158333	missense	probably benign	0.00
R0317:Bcl11a	UTSW	11	24172697	critical splice acceptor site	probably null
R1124:Bcl11a	UTSW	11	24163928	missense	probably damaging	1.00
R1163:Bcl11a	UTSW	11	24165143	missense	probably benign	0.41
R1498:Bcl11a	UTSW	11	24164005	missense	probably damaging	1.00
R1599:Bcl11a	UTSW	11	24163887	missense	probably damaging	1.00
R1689:Bcl11a	UTSW	11	24163167	missense	probably damaging	1.00
R1689:Bcl11a	UTSW	11	24164406	missense	possibly damaging	0.66
R1754:Bcl11a	UTSW	11	24164724	missense	probably damaging	1.00
R2036:Bcl11a	UTSW	11	24164087	missense	possibly damaging	0.71
R2207:Bcl11a	UTSW	11	24163343	missense	probably damaging	1.00
R3700:Bcl11a	UTSW	11	24163890	missense	probably damaging	1.00
R3779:Bcl11a	UTSW	11	24164568	missense	probably damaging	1.00
R4557:Bcl11a	UTSW	11	24164004	missense	probably damaging	1.00
R4703:Bcl11a	UTSW	11	24163725	missense	possibly damaging	0.80
R5006:Bcl11a	UTSW	11	24164989	nonsense	probably null
R5053:Bcl11a	UTSW	11	24164068	missense	probably benign	0.03
R5495:Bcl11a	UTSW	11	24165042	missense	possibly damaging	0.73
R5581:Bcl11a	UTSW	11	24163932	missense	probably damaging	1.00
R5680:Bcl11a	UTSW	11	24164264	missense	possibly damaging	0.52
R5790:Bcl11a	UTSW	11	24163650	missense	probably damaging	1.00
R6291:Bcl11a	UTSW	11	24158321	missense	probably damaging	0.96
R6723:Bcl11a	UTSW	11	24163646	missense	probably damaging	1.00
R7116:Bcl11a	UTSW	11	24163839	missense	probably damaging	1.00
R7274:Bcl11a	UTSW	11	24163985	missense	probably damaging	1.00
R7569:Bcl11a	UTSW	11	24085458	nonsense	probably null
R7843:Bcl11a	UTSW	11	24164831	missense	probably benign	0.26
R7923:Bcl11a	UTSW	11	24163680	missense	probably damaging	1.00
R7964:Bcl11a	UTSW	11	24163353	missense	probably benign	0.28
R8211:Bcl11a	UTSW	11	24078394	missense	probably damaging	0.99
R8242:Bcl11a	UTSW	11	24163208	missense	probably benign	0.14
R8338:Bcl11a	UTSW	11	24164578	missense	probably damaging	1.00
R8478:Bcl11a	UTSW	11	24165086	missense	probably damaging	1.00
R8896:Bcl11a	UTSW	11	24163640	missense	probably benign	0.00
R8911:Bcl11a	UTSW	11	24164763	missense	probably damaging	1.00
Z1176:Bcl11a	UTSW	11	24165010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTATAAGTGCAACCTGTGCGACC -3'
(R):5'- CCGAGTCTTCATCACAAGTGTCCC -3'

Sequencing Primer
(F):5'- CAAGCTGAAGCGTCACATGA -3'
(R):5'- ATCACAAGTGTCCCTATGGC -3'

Posted On

2014-01-05