Incidental Mutation 'R0317:Bcl11a'
ID 98822
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 038527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0317 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 24028056-24124123 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 24122697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000881] [ENSMUST00000109514] [ENSMUST00000109516] [ENSMUST00000118955]
AlphaFold Q9QYE3
Predicted Effect probably null
Transcript: ENSMUST00000000881
SMART Domains Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000109516
SMART Domains Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 45 73 3.2e-8 PFAM
ZnF_C2H2 170 193 7.15e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118955
SMART Domains Protein: ENSMUSP00000112948
Gene: ENSMUSG00000000861

DomainStartEndE-ValueType
ZnF_C2H2 118 141 7.15e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146717
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,243,459 (GRCm39) V1774A probably damaging Het
Adam34 G A 8: 44,105,288 (GRCm39) P119L probably benign Het
Ap3b2 T C 7: 81,113,429 (GRCm39) probably null Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Cab39 A G 1: 85,776,881 (GRCm39) E322G probably damaging Het
Cad C A 5: 31,229,665 (GRCm39) P1382Q probably benign Het
Cc2d2a T C 5: 43,864,243 (GRCm39) probably null Het
Cela2a A T 4: 141,549,011 (GRCm39) probably null Het
Cert1 C T 13: 96,770,629 (GRCm39) R487* probably null Het
Ces1e A C 8: 93,950,667 (GRCm39) I38S probably benign Het
Ces1f A T 8: 93,990,019 (GRCm39) F364I probably benign Het
Chgb A G 2: 132,635,731 (GRCm39) T558A probably benign Het
Cnpy4 C T 5: 138,191,074 (GRCm39) Q217* probably null Het
Crlf1 A G 8: 70,951,249 (GRCm39) T43A probably benign Het
Dnah7b T A 1: 46,173,816 (GRCm39) M707K probably damaging Het
Ets2 G A 16: 95,513,193 (GRCm39) S123N probably damaging Het
Fry T C 5: 150,394,933 (GRCm39) F304S probably damaging Het
Gadd45gip1 G A 8: 85,560,745 (GRCm39) R120H probably benign Het
Gbf1 A G 19: 46,242,459 (GRCm39) T96A probably benign Het
Ggn T A 7: 28,870,515 (GRCm39) M1K probably null Het
Gm5239 A G 18: 35,669,969 (GRCm39) T112A probably benign Het
Insyn2b C A 11: 34,352,826 (GRCm39) D289E possibly damaging Het
Kifbp A T 10: 62,413,861 (GRCm39) probably null Het
Lrrc15 A T 16: 30,092,561 (GRCm39) H259Q probably benign Het
Lysmd4 A G 7: 66,876,045 (GRCm39) Y236C probably damaging Het
Med29 T C 7: 28,086,284 (GRCm39) T175A possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Myh1 T C 11: 67,108,338 (GRCm39) L1308P probably damaging Het
Nphp4 T A 4: 152,636,388 (GRCm39) probably null Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pgm5 A G 19: 24,801,763 (GRCm39) I155T possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Phactr4 T A 4: 132,114,241 (GRCm39) K51I probably damaging Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Rab11a A G 9: 64,632,835 (GRCm39) S24P probably damaging Het
Rasef T C 4: 73,666,799 (GRCm39) Q160R probably damaging Het
Rbl2 A G 8: 91,813,772 (GRCm39) D339G probably benign Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rfc1 A T 5: 65,453,395 (GRCm39) probably null Het
Scarb1 A G 5: 125,366,756 (GRCm39) V59A probably damaging Het
Slc2a4 C T 11: 69,837,182 (GRCm39) V85M probably damaging Het
Slc6a12 A G 6: 121,335,584 (GRCm39) I291V possibly damaging Het
Slco3a1 A C 7: 74,154,174 (GRCm39) Y104D probably damaging Het
Suz12 T A 11: 79,889,904 (GRCm39) D13E probably damaging Het
Tlr1 G T 5: 65,083,310 (GRCm39) C422* probably null Het
Tmco1 T C 1: 167,153,462 (GRCm39) V114A probably damaging Het
Trpa1 T C 1: 14,951,856 (GRCm39) T948A probably benign Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Ufsp2 G A 8: 46,445,270 (GRCm39) probably null Het
Veph1 T C 3: 66,079,396 (GRCm39) D373G probably benign Het
Vmn1r206 A G 13: 22,805,130 (GRCm39) S26P possibly damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Wnk4 T C 11: 101,159,630 (GRCm39) S612P probably benign Het
Zfp503 T C 14: 22,036,527 (GRCm39) K130E probably benign Het
Zkscan16 G A 4: 58,957,602 (GRCm39) C628Y possibly damaging Het
Other mutations in Bcl11a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-01-10