Incidental Mutation 'IGL02090:Cbfa2t2'
ID |
279442 |
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 # |
IGL02090
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 154373336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000109725]
|
AlphaFold |
O70374 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045270
|
SMART Domains |
Protein: ENSMUSP00000043087 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 |
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: ENSMUST00000109725
|
SMART Domains |
Protein: ENSMUSP00000105347 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 |
1e-40 |
PFAM |
Pfam:zf-MYND
|
497 |
533 |
3.3e-11 |
PFAM |
low complexity region
|
572 |
587 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137526
|
SMART Domains |
Protein: ENSMUSP00000118371 Gene: ENSMUSG00000038533
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
Blnk |
A |
G |
19: 40,922,929 (GRCm39) |
V396A |
probably benign |
Het |
Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
Gigyf1 |
G |
A |
5: 137,523,826 (GRCm39) |
|
probably null |
Het |
Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,021,121 (GRCm39) |
|
probably null |
Het |
Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
Slc24a5 |
A |
T |
2: 124,910,218 (GRCm39) |
T40S |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
Tlr11 |
A |
G |
14: 50,600,489 (GRCm39) |
D825G |
probably damaging |
Het |
Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
possibly damaging |
Het |
|
Other mutations in Cbfa2t2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00833:Cbfa2t2
|
APN |
2 |
154,370,795 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01913:Cbfa2t2
|
APN |
2 |
154,359,693 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |