Incidental Mutation 'IGL00833:Cbfa2t2'
| ID |
9416 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbfa2t2
|
| Ensembl Gene |
ENSMUSG00000038533 |
| Gene Name |
CBFA2/RUNX1 translocation partner 2 |
| Synonyms |
Cbfa2t2h, MTGR1, C330013D05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
IGL00833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154370795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 423
(Y423N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109725]
|
| AlphaFold |
O70374 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045270
AA Change: Y423N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: Y423N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
1.3e-40 |
PFAM |
|
PDB:2KYG|C
|
420 |
450 |
3e-7 |
PDB |
|
Pfam:zf-MYND
|
498 |
534 |
1.4e-9 |
PFAM |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099178
|
| SMART Domains |
Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
4.4e-40 |
PFAM |
|
low complexity region
|
402 |
419 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109725
AA Change: Y423N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: Y423N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
1e-40 |
PFAM |
|
Pfam:zf-MYND
|
497 |
533 |
3.3e-11 |
PFAM |
|
low complexity region
|
572 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137526
AA Change: Y128N
|
| SMART Domains |
Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533
AA Change: Y128N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
28 |
94 |
2e-41 |
PFAM |
|
Pfam:zf-MYND
|
203 |
239 |
3.1e-10 |
PFAM |
|
low complexity region
|
278 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154487
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,108,006 (GRCm39) |
E350G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,060,101 (GRCm39) |
V2861A |
probably benign |
Het |
| Bpifb9a |
C |
T |
2: 154,106,195 (GRCm39) |
Q358* |
probably null |
Het |
| Cd209e |
A |
C |
8: 3,902,800 (GRCm39) |
M102R |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,122,004 (GRCm39) |
V173D |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,315 (GRCm39) |
F443L |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,948,859 (GRCm39) |
E901K |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,128,284 (GRCm39) |
D130G |
possibly damaging |
Het |
| H2-T3 |
T |
G |
17: 36,497,933 (GRCm39) |
S327R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,246,060 (GRCm39) |
I417T |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,459,933 (GRCm39) |
V377A |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,964,320 (GRCm39) |
I132V |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,889 (GRCm39) |
K622N |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,039,896 (GRCm39) |
V740I |
probably benign |
Het |
| Polr3gl |
T |
G |
3: 96,485,876 (GRCm39) |
D130A |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,006,230 (GRCm39) |
K784R |
possibly damaging |
Het |
| Sycp1 |
A |
G |
3: 102,783,617 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
T |
15: 66,560,650 (GRCm39) |
T1004I |
probably benign |
Het |
| Tmco5b |
T |
A |
2: 113,127,194 (GRCm39) |
I255N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
A |
G |
18: 5,767,774 (GRCm39) |
T762A |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,649 (GRCm39) |
E296G |
probably damaging |
Het |
|
| Other mutations in Cbfa2t2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01913:Cbfa2t2
|
APN |
2 |
154,359,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02090:Cbfa2t2
|
APN |
2 |
154,373,336 (GRCm39) |
splice site |
probably benign |
|
|
IGL02850:Cbfa2t2
|
APN |
2 |
154,377,090 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0302:Cbfa2t2
|
UTSW |
2 |
154,376,796 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Cbfa2t2
|
UTSW |
2 |
154,373,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1218:Cbfa2t2
|
UTSW |
2 |
154,365,839 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1571:Cbfa2t2
|
UTSW |
2 |
154,342,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Cbfa2t2
|
UTSW |
2 |
154,346,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Cbfa2t2
|
UTSW |
2 |
154,359,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Cbfa2t2
|
UTSW |
2 |
154,359,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Cbfa2t2
|
UTSW |
2 |
154,377,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Cbfa2t2
|
UTSW |
2 |
154,278,904 (GRCm39) |
intron |
probably benign |
|
|
R4299:Cbfa2t2
|
UTSW |
2 |
154,365,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Cbfa2t2
|
UTSW |
2 |
154,365,845 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4969:Cbfa2t2
|
UTSW |
2 |
154,365,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Cbfa2t2
|
UTSW |
2 |
154,346,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Cbfa2t2
|
UTSW |
2 |
154,373,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Cbfa2t2
|
UTSW |
2 |
154,365,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Cbfa2t2
|
UTSW |
2 |
154,278,782 (GRCm39) |
intron |
probably benign |
|
|
R5808:Cbfa2t2
|
UTSW |
2 |
154,359,746 (GRCm39) |
splice site |
probably null |
|
|
R5826:Cbfa2t2
|
UTSW |
2 |
154,342,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5977:Cbfa2t2
|
UTSW |
2 |
154,359,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Cbfa2t2
|
UTSW |
2 |
154,352,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Cbfa2t2
|
UTSW |
2 |
154,365,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6923:Cbfa2t2
|
UTSW |
2 |
154,376,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Cbfa2t2
|
UTSW |
2 |
154,357,895 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7318:Cbfa2t2
|
UTSW |
2 |
154,342,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7622:Cbfa2t2
|
UTSW |
2 |
154,342,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8030:Cbfa2t2
|
UTSW |
2 |
154,357,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8691:Cbfa2t2
|
UTSW |
2 |
154,342,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8977:Cbfa2t2
|
UTSW |
2 |
154,342,410 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9420:Cbfa2t2
|
UTSW |
2 |
154,352,426 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9569:Cbfa2t2
|
UTSW |
2 |
154,346,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation