Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Bcl11a'

448290

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

043384-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24028056-24124123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24113650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 331 (L331Q)

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: L331Q

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

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: L331Q

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: L331Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: L331Q

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

Meta Mutation Damage Score

0.1539

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,184,757 (GRCm39)	D1118E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,293,827 (GRCm39)	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Grk3	T	G	5: 113,114,842 (GRCm39)	K126T	possibly damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Nek3	C	A	8: 22,621,313 (GRCm39)	Q405H	probably damaging	Het
Nek3	T	A	8: 22,621,314 (GRCm39)	Q403L	probably damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
Or6c66	A	G	10: 129,461,757 (GRCm39)	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	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
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'- ACCGAGACATCACTTGGACC -3'
(R):5'- TTCTCACCAGTATGGCTGC -3'

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

Posted On

2016-12-15