Incidental Mutation 'R3617:Cbfa2t2'
| ID |
473062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbfa2t2
|
| Ensembl Gene |
ENSMUSG00000038533 |
| Gene Name |
CBFA2/RUNX1 translocation partner 2 |
| Synonyms |
Cbfa2t2h, MTGR1, C330013D05Rik |
| MMRRC Submission |
040674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
R3617 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 154278904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109724]
[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: 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 benign
Transcript: ENSMUST00000109724
|
| SMART Domains |
Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
| Domain | Start | End | E-Value | Type |
|---|
|
TAFH
|
58 |
148 |
1.06e-49 |
SMART |
|
| 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 |
unknown
Transcript: ENSMUST00000155202
AA Change: E47D
|
| SMART Domains |
Protein: ENSMUSP00000116220
Gene: ENSMUSG00000038533
AA Change: E47D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
164 |
192 |
7.1e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
| Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
| Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
| Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
| Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
| Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
| Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
| Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
| Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
| Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation