Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Bcl11a'

551785

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

045207-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24078056-24174123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24163839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 394 (V394A)

Ref Sequence

ENSEMBL: ENSMUSP00000105140 (fasta)

Gene Model

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

AlphaFold

Q9QYE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000881
AA Change: V394A

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

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: V394A

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: V394A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: V394A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
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
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
R9489:Bcl11a	UTSW	11	24164582	missense	probably benign	0.00
Z1176:Bcl11a	UTSW	11	24165010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTATGCAAAGGTTACTGCAAC -3'
(R):5'- TGAACTTGGCCACCACTGAC -3'

Sequencing Primer
(F):5'- TGCAACCATTCCAGCCAGGTAG -3'
(R):5'- ACTTGGCCACCACTGACTTGAG -3'

Posted On

2019-05-15