Incidental Mutation 'R1608:Cbfa2t3'
ID |
176628 |
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 |
039645-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1608 (G1)
|
Quality Score |
119 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123351880-123425848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 123374448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 99
(V99D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118997
(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 damaging
Transcript: ENSMUST00000064674
AA Change: V64D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000065728 Gene: ENSMUSG00000006362 AA Change: V64D
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 damaging
Transcript: ENSMUST00000127984
AA Change: V99D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118997 Gene: ENSMUSG00000006362 AA Change: V99D
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 |
possibly damaging
Transcript: ENSMUST00000134045
AA Change: V64D
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117630 Gene: ENSMUSG00000006362 AA Change: V64D
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: ENSMUST00000148630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147374
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
A |
G |
9: 30,813,775 (GRCm39) |
S797P |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
B3gat1 |
T |
C |
9: 26,663,112 (GRCm39) |
I13T |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
Fcho2 |
T |
C |
13: 98,862,706 (GRCm39) |
D757G |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,527,217 (GRCm39) |
T559A |
probably benign |
Het |
Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
Slc40a1 |
C |
T |
1: 45,950,457 (GRCm39) |
A332T |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
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 |
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 |
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'- ATGTTGAGGATGCAGCTCAGTCGG -3'
(R):5'- CAGTGGCAACAGTGTGGTCTTTAGG -3'
Sequencing Primer
(F):5'- tgtgtaagtacactgtagctgtc -3'
(R):5'- GTCTTTAGGACTGCCACTGC -3'
|
Posted On |
2014-04-24 |