Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Bcl11a'

189583

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

039722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24078056-24174123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24164406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 583 (D583V)

Ref Sequence

ENSEMBL: ENSMUSP00000105140 (fasta)

Gene Model

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

AlphaFold

Q9QYE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000881
AA Change: D583V

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: D583V

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

possibly damaging
Transcript: ENSMUST00000109514
AA Change: D583V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: D583V

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: 98.5%
10x: 96.8%
20x: 93.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	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
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
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'- CAAGTTCAAGAGTGAGAACGACCCC -3'
(R):5'- AGCTTGATGCGCTTGGAGAAGG -3'

Sequencing Primer
(F):5'- gaggaagaagaagaagaggagg -3'
(R):5'- CTTGGAGAAGGGGCTCAGC -3'

Posted On

2014-05-14