Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Bcl11a'

678045

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

068698-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24028056-24124123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24113640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 328 (S328G)

Ref Sequence

ENSEMBL: ENSMUSP00000105140 (fasta)

Gene Model

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

AlphaFold

Q9QYE3

Predicted Effect

probably benign
Transcript: ENSMUST00000000881
AA Change: S328G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: S328G

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 benign
Transcript: ENSMUST00000109514
AA Change: S328G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: S328G

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,291,233 (GRCm39)	S784A	probably benign	Het
Ap3d1	T	A	10: 80,552,425 (GRCm39)	H581L	probably benign	Het
Atp11a	T	C	8: 12,899,781 (GRCm39)	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,437,514 (GRCm39)	D213G	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cadps2	T	A	6: 23,410,876 (GRCm39)	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 179,958,373 (GRCm39)		probably benign	Het
Cep152	A	T	2: 125,408,155 (GRCm39)	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,833,254 (GRCm39)	I404V	probably benign	Het
Cr2	A	T	1: 194,851,581 (GRCm39)	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,644,454 (GRCm39)	Y257C	unknown	Het
Dennd1c	T	A	17: 57,381,512 (GRCm39)	D116V	probably damaging	Het
Dph2	G	A	4: 117,747,575 (GRCm39)	R270*	probably null	Het
Dpp8	A	C	9: 64,985,318 (GRCm39)	H792P	possibly damaging	Het
Dusp29	T	C	14: 21,736,763 (GRCm39)	D113G	probably benign	Het
Efs	T	C	14: 55,157,756 (GRCm39)	E185G	possibly damaging	Het
Eml3	A	G	19: 8,914,056 (GRCm39)	E480G	probably damaging	Het
Fam193a	A	G	5: 34,583,828 (GRCm39)	T336A	probably benign	Het
Fermt1	C	T	2: 132,783,852 (GRCm39)		probably benign	Het
Galnt4	T	A	10: 98,945,955 (GRCm39)	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,309,327 (GRCm39)	T146K	probably damaging	Het
Gbp5	C	T	3: 142,211,308 (GRCm39)	T346I	probably damaging	Het
Glrx	G	T	13: 75,995,317 (GRCm39)	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,490,616 (GRCm39)	T225S	probably damaging	Het
Grm3	A	G	5: 9,562,483 (GRCm39)	F456L	possibly damaging	Het
Gse1	T	G	8: 121,303,185 (GRCm39)	S1109A	unknown	Het
Gstp3	A	T	19: 4,108,573 (GRCm39)	L63Q	probably damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Herc4	T	A	10: 63,147,286 (GRCm39)	I801N	possibly damaging	Het
Ido1	G	T	8: 25,077,880 (GRCm39)	D153E	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnj9	T	A	1: 172,153,360 (GRCm39)	S255C	probably damaging	Het
Kpna3	T	C	14: 61,629,294 (GRCm39)	N39D	probably benign	Het
Krt39	A	T	11: 99,409,095 (GRCm39)	S269T	probably damaging	Het
Lfng	G	A	5: 140,598,978 (GRCm39)	V296I	probably benign	Het
Lrit3	T	A	3: 129,585,132 (GRCm39)	I209F	probably damaging	Het
Map4k5	T	A	12: 69,870,275 (GRCm39)	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328 (GRCm39)	P652L	probably benign	Het
Med30	G	A	15: 52,584,516 (GRCm39)	V145I	possibly damaging	Het
Megf6	T	A	4: 154,326,860 (GRCm39)	D163E	probably damaging	Het
Meltf	T	A	16: 31,709,522 (GRCm39)		probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mppe1	T	C	18: 67,370,472 (GRCm39)	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673 (GRCm38)	P1516S	probably benign	Het
Myo3b	C	A	2: 70,069,160 (GRCm39)	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,298,688 (GRCm39)	T226A	probably benign	Het
Nod1	A	G	6: 54,921,277 (GRCm39)	V347A	probably benign	Het
Nup210	A	T	6: 91,019,235 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,025,932 (GRCm39)	R185G	probably damaging	Het
Oma1	T	C	4: 103,210,829 (GRCm39)	L445S	probably damaging	Het
Or13p10	A	T	4: 118,523,502 (GRCm39)	M263L	probably benign	Het
Or5ac20	A	T	16: 59,104,452 (GRCm39)	M136K	probably damaging	Het
Or8g36	A	G	9: 39,422,770 (GRCm39)	L82P	probably damaging	Het
Oxsm	A	T	14: 16,242,677 (GRCm38)	F31I	probably benign	Het
Pdcd5	A	T	7: 35,346,795 (GRCm39)	M1K	probably null	Het
Pkd1l2	T	C	8: 117,740,615 (GRCm39)	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,442,151 (GRCm39)	S404C	probably null	Het
Plec	A	G	15: 76,078,560 (GRCm39)	V60A	unknown	Het
Prpsap2	A	G	11: 61,643,736 (GRCm39)	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804 (GRCm38)	L239P	probably damaging	Het
Ryr3	A	T	2: 112,583,395 (GRCm39)	Y2845*	probably null	Het
Spta1	T	C	1: 174,045,548 (GRCm39)	C1569R	probably damaging	Het
Stard13	G	A	5: 150,986,115 (GRCm39)	S465L	probably damaging	Het
Tmub1	A	T	5: 24,651,680 (GRCm39)	S80T	probably benign	Het
Trpv5	A	G	6: 41,647,847 (GRCm39)	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,411,203 (GRCm39)	A455V	probably benign	Het
Washc4	T	A	10: 83,405,882 (GRCm39)	N459K	probably damaging	Het
Wdr11	C	T	7: 129,207,437 (GRCm39)	R300*	probably null	Het
Zer1	A	G	2: 29,993,430 (GRCm39)	F559L	probably damaging	Het
Zfat	A	T	15: 68,052,519 (GRCm39)	V425D	probably damaging	Het
Zfp738	G	A	13: 67,817,910 (GRCm39)	L694F		Het
Zfp839	C	T	12: 110,835,277 (GRCm39)	A844V	probably damaging	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
R1599:Bcl11a	UTSW	11	24,113,887 (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
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'- ACCGAGACATCACTTGGACC -3'
(R):5'- TTCTCACCAGTATGGCTGCG -3'

Sequencing Primer
(F):5'- TTGGACCCCCACCGCATAG -3'
(R):5'- GAAATTTGAACGTCTTGCCGCAG -3'

Posted On

2021-08-02