Incidental Mutation 'R0784:Cbfa2t3'
| ID |
76776 |
| 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 |
038964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0784 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123351880-123425848 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 123377226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117630
(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
|
| SMART Domains |
Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
| 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
|
| SMART Domains |
Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148630
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
| Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
| Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
| Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
| Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
| Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
| LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
| Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
| Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
| Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
| Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
| St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
| Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
| Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
| Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R6067:Cbfa2t3
|
UTSW |
8 |
123,370,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTCTACACAAGGTATGGGCAGGGG -3'
(R):5'- TCACTCGGACATGCTTGGTAATGG -3'
Sequencing Primer
(F):5'- GTCGTGGGCAGGGAGAC -3'
(R):5'- TTAGATGCCACCTGTGAGAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation