Incidental Mutation 'R5808:Cbfa2t2'
ID |
448822 |
Institutional Source |
Beutler Lab
|
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: 0.810)
|
Stock # |
R5808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
Type of Mutation |
splice site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 154359746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109724]
[ENSMUST00000109725]
|
AlphaFold |
O70374 |
Predicted Effect |
silent
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 |
silent
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 null
Transcript: ENSMUST00000109724
|
SMART Domains |
Protein: ENSMUSP00000105346 Gene: ENSMUSG00000038533
Domain | Start | End | E-Value | Type |
TAFH
|
58 |
148 |
1.06e-49 |
SMART |
|
Predicted Effect |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000135647
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,250,812 (GRCm39) |
V866E |
probably benign |
Het |
Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,744 (GRCm39) |
E122G |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,406,428 (GRCm39) |
S139G |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
Sec23ip |
C |
A |
7: 128,373,908 (GRCm39) |
A710E |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
Trappc12 |
T |
A |
12: 28,796,863 (GRCm39) |
D223V |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
probably null |
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 |
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 |
|
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 |
PCR Primer
(F):5'- ACTCTGGGAAGAAACAGCTATTC -3'
(R):5'- AGTCTGTGAACTCCCTCCAG -3'
Sequencing Primer
(F):5'- ACAGCTATTCTGAGACTCGTAGG -3'
(R):5'- GTCTGTGAACTCCCTCCAGATGAAG -3'
|
Posted On |
2016-12-15 |