Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Bcl11a'

176054

Institutional Source

Beutler Lab

Gene Symbol

Bcl11a

Ensembl Gene

ENSMUSG00000000861

Gene Name

BCL11 transcription factor A

Synonyms

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

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24028056-24124123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24113887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 410 (C410F)

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: C410F

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

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: C410F

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: C410F

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

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: C410F

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: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Fam161a	A	T	11: 22,971,093 (GRCm39)	M180L	probably benign	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Kcna6	A	T	6: 126,716,282 (GRCm39)	D202E	probably benign	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,744,899 (GRCm39)	E10G	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,890,422 (GRCm39)	T4I	probably benign	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Ttll1	A	G	15: 83,381,555 (GRCm39)	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	Het

Other mutations in Bcl11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Bcl11a	APN	11	24,113,346 (GRCm39)	missense	probably benign	0.00
IGL03190:Bcl11a	APN	11	24,108,333 (GRCm39)	missense	probably benign	0.00
R0317:Bcl11a	UTSW	11	24,122,697 (GRCm39)	critical splice acceptor site	probably null
R1061:Bcl11a	UTSW	11	24,114,069 (GRCm39)	nonsense	probably null
R1124:Bcl11a	UTSW	11	24,113,928 (GRCm39)	missense	probably damaging	1.00
R1163:Bcl11a	UTSW	11	24,115,143 (GRCm39)	missense	probably benign	0.41
R1498:Bcl11a	UTSW	11	24,114,005 (GRCm39)	missense	probably damaging	1.00
R1689:Bcl11a	UTSW	11	24,114,406 (GRCm39)	missense	possibly damaging	0.66
R1689:Bcl11a	UTSW	11	24,113,167 (GRCm39)	missense	probably damaging	1.00
R1754:Bcl11a	UTSW	11	24,114,724 (GRCm39)	missense	probably damaging	1.00
R2036:Bcl11a	UTSW	11	24,114,087 (GRCm39)	missense	possibly damaging	0.71
R2207:Bcl11a	UTSW	11	24,113,343 (GRCm39)	missense	probably damaging	1.00
R3700:Bcl11a	UTSW	11	24,113,890 (GRCm39)	missense	probably damaging	1.00
R3779:Bcl11a	UTSW	11	24,114,568 (GRCm39)	missense	probably damaging	1.00
R4557:Bcl11a	UTSW	11	24,114,004 (GRCm39)	missense	probably damaging	1.00
R4703:Bcl11a	UTSW	11	24,113,725 (GRCm39)	missense	possibly damaging	0.80
R5006:Bcl11a	UTSW	11	24,114,989 (GRCm39)	nonsense	probably null
R5053:Bcl11a	UTSW	11	24,114,068 (GRCm39)	missense	probably benign	0.03
R5495:Bcl11a	UTSW	11	24,115,042 (GRCm39)	missense	possibly damaging	0.73
R5581:Bcl11a	UTSW	11	24,113,932 (GRCm39)	missense	probably damaging	1.00
R5680:Bcl11a	UTSW	11	24,114,264 (GRCm39)	missense	possibly damaging	0.52
R5790:Bcl11a	UTSW	11	24,113,650 (GRCm39)	missense	probably damaging	1.00
R6291:Bcl11a	UTSW	11	24,108,321 (GRCm39)	missense	probably damaging	0.96
R6723:Bcl11a	UTSW	11	24,113,646 (GRCm39)	missense	probably damaging	1.00
R7116:Bcl11a	UTSW	11	24,113,839 (GRCm39)	missense	probably damaging	1.00
R7274:Bcl11a	UTSW	11	24,113,985 (GRCm39)	missense	probably damaging	1.00
R7569:Bcl11a	UTSW	11	24,035,458 (GRCm39)	nonsense	probably null
R7843:Bcl11a	UTSW	11	24,114,831 (GRCm39)	missense	probably benign	0.26
R7923:Bcl11a	UTSW	11	24,113,680 (GRCm39)	missense	probably damaging	1.00
R7964:Bcl11a	UTSW	11	24,113,353 (GRCm39)	missense	probably benign	0.28
R8211:Bcl11a	UTSW	11	24,028,394 (GRCm39)	missense	probably damaging	0.99
R8242:Bcl11a	UTSW	11	24,113,208 (GRCm39)	missense	probably benign	0.14
R8338:Bcl11a	UTSW	11	24,114,578 (GRCm39)	missense	probably damaging	1.00
R8478:Bcl11a	UTSW	11	24,115,086 (GRCm39)	missense	probably damaging	1.00
R8896:Bcl11a	UTSW	11	24,113,640 (GRCm39)	missense	probably benign	0.00
R8911:Bcl11a	UTSW	11	24,114,763 (GRCm39)	missense	probably damaging	1.00
R9489:Bcl11a	UTSW	11	24,114,582 (GRCm39)	missense	probably benign	0.00
Z1176:Bcl11a	UTSW	11	24,115,010 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTAGTCCACCACCGAGACATCAC -3'
(R):5'- GGATCAAGTTGGGGTCGTTCTCAC -3'

Sequencing Primer
(F):5'- CAGTCCTATGCAAAGGTTACTGC -3'
(R):5'- GGTCGTTCTCACTCTTGAACTTG -3'

Posted On

2014-04-24