Incidental Mutation 'R6067:Cbfa2t3'
| ID |
512223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbfa2t3
|
| Ensembl Gene |
ENSMUSG00000006362 |
| Gene Name |
CBFA2/RUNX1 translocation partner 3 |
| Synonyms |
MTGR2, A630044F12Rik, ETO-2, Eto2 |
| MMRRC Submission |
044231-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123351880-123425848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123370236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 53
(H53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006525]
[ENSMUST00000064674]
[ENSMUST00000127664]
[ENSMUST00000127984]
[ENSMUST00000134045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006525
AA Change: H53R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: H53R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
TAFH
|
87 |
177 |
5.46e-52 |
SMART |
|
low complexity region
|
248 |
257 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
295 |
361 |
3.6e-41 |
PFAM |
|
PDB:2KYG|C
|
395 |
424 |
3e-10 |
PDB |
|
Pfam:zf-MYND
|
472 |
508 |
2.6e-10 |
PFAM |
|
low complexity region
|
529 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064674
AA Change: H79R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: H79R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
TAFH
|
113 |
203 |
5.46e-52 |
SMART |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
321 |
387 |
7.1e-41 |
PFAM |
|
PDB:2KYG|C
|
421 |
450 |
1e-10 |
PDB |
|
Pfam:zf-MYND
|
498 |
534 |
7.1e-10 |
PFAM |
|
low complexity region
|
555 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127984
AA Change: H114R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: H114R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
|
TAFH
|
148 |
238 |
5.46e-52 |
SMART |
|
low complexity region
|
309 |
318 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
356 |
422 |
2.3e-38 |
PFAM |
|
PDB:2KYG|C
|
456 |
485 |
2e-10 |
PDB |
|
Pfam:zf-MYND
|
533 |
569 |
6.9e-10 |
PFAM |
|
low complexity region
|
590 |
613 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134045
AA Change: H79R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362
AA Change: H79R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
111 |
185 |
3.7e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147374
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice that are homozygote null for this gene display skewing of the early myeloid progenitor cells toward the granulocytic/macrophage lineage while reducing the numbers of megakaryocyte-erythroid progenitor cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,815,295 (GRCm39) |
D85G |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,975 (GRCm39) |
F299S |
probably damaging |
Het |
|
| Other mutations in Cbfa2t3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02095:Cbfa2t3
|
APN |
8 |
123,360,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02578:Cbfa2t3
|
APN |
8 |
123,360,187 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02934:Cbfa2t3
|
APN |
8 |
123,374,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03089:Cbfa2t3
|
APN |
8 |
123,361,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Cbfa2t3
|
UTSW |
8 |
123,360,076 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0365:Cbfa2t3
|
UTSW |
8 |
123,361,799 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0395:Cbfa2t3
|
UTSW |
8 |
123,365,690 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0784:Cbfa2t3
|
UTSW |
8 |
123,377,226 (GRCm39) |
splice site |
probably benign |
|
|
R0835:Cbfa2t3
|
UTSW |
8 |
123,374,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1608:Cbfa2t3
|
UTSW |
8 |
123,374,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2008:Cbfa2t3
|
UTSW |
8 |
123,370,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2088:Cbfa2t3
|
UTSW |
8 |
123,364,725 (GRCm39) |
unclassified |
probably benign |
|
|
R2095:Cbfa2t3
|
UTSW |
8 |
123,361,727 (GRCm39) |
missense |
probably benign |
|
|
R4079:Cbfa2t3
|
UTSW |
8 |
123,374,434 (GRCm39) |
splice site |
probably null |
|
|
R4175:Cbfa2t3
|
UTSW |
8 |
123,370,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Cbfa2t3
|
UTSW |
8 |
123,365,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5141:Cbfa2t3
|
UTSW |
8 |
123,361,760 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5391:Cbfa2t3
|
UTSW |
8 |
123,360,134 (GRCm39) |
nonsense |
probably null |
|
|
R6078:Cbfa2t3
|
UTSW |
8 |
123,370,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6192:Cbfa2t3
|
UTSW |
8 |
123,361,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Cbfa2t3
|
UTSW |
8 |
123,360,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Cbfa2t3
|
UTSW |
8 |
123,362,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6936:Cbfa2t3
|
UTSW |
8 |
123,374,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7154:Cbfa2t3
|
UTSW |
8 |
123,364,883 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Cbfa2t3
|
UTSW |
8 |
123,365,729 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7295:Cbfa2t3
|
UTSW |
8 |
123,364,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7514:Cbfa2t3
|
UTSW |
8 |
123,361,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Cbfa2t3
|
UTSW |
8 |
123,360,076 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8070:Cbfa2t3
|
UTSW |
8 |
123,369,720 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8485:Cbfa2t3
|
UTSW |
8 |
123,357,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8534:Cbfa2t3
|
UTSW |
8 |
123,365,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Cbfa2t3
|
UTSW |
8 |
123,364,936 (GRCm39) |
missense |
probably benign |
0.25 |
|
U15987:Cbfa2t3
|
UTSW |
8 |
123,370,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cbfa2t3
|
UTSW |
8 |
123,425,634 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Cbfa2t3
|
UTSW |
8 |
123,357,496 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGATAGCCCATAGACTCAC -3'
(R):5'- TGAGCACAGAACGGTTGCAG -3'
Sequencing Primer
(F):5'- AGGCCCAGCACCAGTGTG -3'
(R):5'- CGGTTGCAGGGACAGAGC -3'
|
| Posted On |
2018-04-12 |
Incidental Mutation