Incidental Mutation 'R6936:Cbfa2t3'
| ID |
540306 |
| 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 |
045050-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6936 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123351880-123425848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 123374478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 89
(R89P)
|
| 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 benign
Transcript: ENSMUST00000064674
AA Change: R54P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: R54P
| 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: R89P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: R89P
| 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: R54P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362
AA Change: R54P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
111 |
185 |
3.7e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
| Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
| Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
| Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,741 (GRCm39) |
D202N |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
| Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
| Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
| Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,965,433 (GRCm39) |
D313G |
probably benign |
Het |
| Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
| Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
| Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
| Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
| Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
| Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,798,148 (GRCm39) |
T46S |
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,548 (GRCm39) |
S120P |
possibly damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,984,953 (GRCm39) |
T64A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
|
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 |
|
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'- CAGGTAGCCTCCTTGAAGAC -3'
(R):5'- TAAGAGTGAAATGTCCTGCTGAC -3'
Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAG -3'
(R):5'- GTGCAACCCATTTTACAGAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation