Mutagenetix > Incidental Mutations

Incidental Mutation 'R2207:Bcl11a'

239153

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

040209-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24078056-24174123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24163343 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 229 (G229W)

Ref Sequence

ENSEMBL: ENSMUSP00000000881 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000000881
AA Change: G229W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: G229W

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 damaging
Transcript: ENSMUST00000109514
AA Change: G229W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: G229W

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,106	V300A	probably benign	Het
2410137M14Rik	A	G	17: 36,978,073		probably benign	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abcb1b	C	T	5: 8,824,803	R488C	probably benign	Het
Adam34	T	C	8: 43,652,237	I124V	probably benign	Het
Aicda	T	A	6: 122,561,285	V134D	possibly damaging	Het
Akt2	T	A	7: 27,637,200		probably null	Het
Aldh1a3	T	C	7: 66,406,021	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,031,574		probably null	Het
Anxa11	A	G	14: 25,874,297	Y244C	probably damaging	Het
Atp2c2	G	A	8: 119,748,309	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,385,013	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,836,733	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,284,269		probably benign	Het
Cdk17	G	A	10: 93,228,762	D298N	probably damaging	Het
Cdkl3	A	G	11: 52,027,193	*354W	probably null	Het
Celf6	A	T	9: 59,604,327	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 123,013,807	L169F	probably damaging	Het
Col14a1	T	C	15: 55,463,686	F1411L	unknown	Het
Col4a2	G	T	8: 11,443,352	G1354W	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cst13	A	T	2: 148,823,282	R66W	probably damaging	Het
Dhx8	A	G	11: 101,750,971	T632A	probably benign	Het
Disp1	A	G	1: 183,088,342	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,853,846	H599R	probably benign	Het
Dnah12	T	A	14: 26,781,787	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,671	L2406F	probably benign	Het
Fam98b	C	G	2: 117,267,819	R257G	probably damaging	Het
Fbn2	A	T	18: 58,081,399	C900*	probably null	Het
Fgf1	A	G	18: 38,847,085	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,358,804	A632S	probably benign	Het
Fsip2	T	G	2: 82,977,479	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,778,320	G85D	probably benign	Het
Gyg	C	A	3: 20,150,539	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301	L312I	possibly damaging	Het
Hic2	T	C	16: 17,257,460	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hpx	C	T	7: 105,592,426	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,088,554	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,712,441	E397*	probably null	Het
Itfg1	A	T	8: 85,776,198	S246R	probably benign	Het
Kdm2a	A	T	19: 4,362,870	D29E	probably damaging	Het
Lamc2	T	G	1: 153,133,706	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,467,028	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962	C96*	probably null	Het
Maf1	A	G	15: 76,352,518	T17A	probably benign	Het
Map1b	T	C	13: 99,431,083	D1710G	unknown	Het
Megf8	C	T	7: 25,349,797	T1773I	probably damaging	Het
Mei1	T	C	15: 82,103,249	M414T	probably benign	Het
Myo15	A	G	11: 60,506,034	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,844,809	Y64H	probably damaging	Het
Neb	A	T	2: 52,211,567	L4354*	probably null	Het
Nom1	T	A	5: 29,439,974	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,348,312	T331M	probably damaging	Het
Olfr1307	A	C	2: 111,944,925	F177C	probably damaging	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr403	G	T	11: 74,196,324	V274L	possibly damaging	Het
Olfr643	A	G	7: 104,059,405	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,475,022	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,491,289	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,335,580	M518T	probably benign	Het
Pgm2l1	T	A	7: 100,268,112		probably null	Het
Pih1d2	C	A	9: 50,621,079	H162N	probably benign	Het
Pitrm1	T	A	13: 6,569,291	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,458,435	V618F	probably damaging	Het
Plb1	T	C	5: 32,316,640	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,578,860	D562G	probably damaging	Het
Proser1	T	G	3: 53,478,391	S565A	probably benign	Het
Prx	T	A	7: 27,516,788	V238E	probably damaging	Het
Psapl1	T	C	5: 36,205,165	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,940,025	V128A	probably damaging	Het
Rrm1	T	A	7: 102,442,026	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Rsl1	A	G	13: 67,182,828	T447A	probably benign	Het
Ryr2	A	G	13: 11,810,937	S552P	probably damaging	Het
Sbf1	A	G	15: 89,306,693	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,151,498	I194F	probably benign	Het
Setd3	C	T	12: 108,107,285	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slc6a1	T	A	6: 114,308,671	V356E	probably damaging	Het
Slfn1	A	G	11: 83,121,166	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,230,217	H609R	possibly damaging	Het
Spag16	A	G	1: 70,724,884	H621R	probably benign	Het
Tg	G	A	15: 66,681,939	G401D	probably benign	Het
Tnxb	A	C	17: 34,709,417	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,873,442	N1643S	probably benign	Het
Ttn	G	A	2: 76,879,343	R1581*	probably null	Het
Ttn	A	T	2: 76,965,811	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Wdr7	T	A	18: 63,777,607	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,303,402	E36D	possibly damaging	Het
Zfp131	A	T	13: 119,775,812	F303I	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp788	A	T	7: 41,649,640	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,246,087	V2096A	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
R1061:Bcl11a	UTSW	11	24164069	nonsense	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
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

Predicted Primers

PCR Primer
(F):5'- ATGTACAACTTGCAAACAGCCATTC -3'
(R):5'- CCATTGGATTCAACCGCAGC -3'

Sequencing Primer
(F):5'- AGCCATTCACCAGTGCATG -3'
(R):5'- TGTCAAAGGCACTCGGGTG -3'

Posted On

2014-10-02