Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Bcl11a'

657391

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

067922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8478 (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 24115086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 810 (S810G)

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

SMART Domains

Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861

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: S810G

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

SMART Domains

Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: S810G

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nmnat1	A	G	4: 149,557,841 (GRCm39)	I67T	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Polr3c	G	A	3: 96,624,066 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Prokr1	A	G	6: 87,558,330 (GRCm39)	Y352H	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Smyd1	A	T	6: 71,193,811 (GRCm39)	H371Q	probably damaging	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	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
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'- AACTGTAGCAATCTCACTGTCC -3'
(R):5'- GGTGACAAGCACTCATTCATATTC -3'

Sequencing Primer
(F):5'- TGTCCACAGGAGAAGCCAC -3'
(R):5'- TGATCACATGGGACTAGAAAAATCC -3'

Posted On

2021-01-18