Incidental Mutation 'R8534:Cbfa2t3'
| ID |
659162 |
| 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 |
068503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8534 (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 123365653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 219
(D219G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006525]
[ENSMUST00000064674]
[ENSMUST00000127664]
[ENSMUST00000127984]
[ENSMUST00000134045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006525
AA Change: D193G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: D193G
| 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: D219G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: D219G
| 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: D254G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: D254G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
C |
2: 19,545,153 (GRCm39) |
L100R |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,283,182 (GRCm39) |
D282G |
probably damaging |
Het |
| Abcb11 |
G |
T |
2: 69,154,190 (GRCm39) |
N125K |
possibly damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,750 (GRCm39) |
D71V |
probably damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,357 (GRCm39) |
T646S |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,534,887 (GRCm39) |
Y5793H |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,368,799 (GRCm39) |
S125P |
probably damaging |
Het |
| B020011L13Rik |
C |
A |
1: 117,729,034 (GRCm39) |
H180Q |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,165,577 (GRCm39) |
S860P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,671 (GRCm39) |
Q471L |
probably benign |
Het |
| Cyp2c54 |
A |
C |
19: 40,036,030 (GRCm39) |
D293E |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,023,805 (GRCm39) |
N962K |
probably benign |
Het |
| Dst |
C |
T |
1: 34,229,388 (GRCm39) |
T2002I |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,339,864 (GRCm39) |
N239K |
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,543,667 (GRCm39) |
F375L |
probably benign |
Het |
| G6pc2 |
T |
A |
2: 69,050,469 (GRCm39) |
N31K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm6569 |
G |
T |
15: 73,711,673 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
C |
T |
5: 28,280,116 (GRCm39) |
S236L |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,622,979 (GRCm39) |
N882I |
probably benign |
Het |
| Kmt5a |
C |
A |
5: 124,598,635 (GRCm39) |
D309E |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,503,669 (GRCm39) |
T991N |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,528,353 (GRCm39) |
T79S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,134,335 (GRCm39) |
E330V |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,174,070 (GRCm39) |
V377A |
probably benign |
Het |
| Npy5r |
C |
A |
8: 67,134,688 (GRCm39) |
G35V |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,432 (GRCm39) |
I219N |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,448,605 (GRCm39) |
G207D |
possibly damaging |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,302,432 (GRCm39) |
V1226A |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,351,659 (GRCm39) |
T949M |
probably benign |
Het |
| Phc1 |
G |
A |
6: 122,315,539 (GRCm39) |
|
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,083 (GRCm39) |
I55V |
possibly damaging |
Het |
| Pik3r2 |
A |
T |
8: 71,227,312 (GRCm39) |
S104T |
probably benign |
Het |
| Pip |
T |
C |
6: 41,828,421 (GRCm39) |
V85A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,445 (GRCm39) |
V86A |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 111,058,380 (GRCm39) |
P138S |
possibly damaging |
Het |
| Rab44 |
A |
G |
17: 29,363,547 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,830,095 (GRCm39) |
S691P |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,079,118 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,826,542 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,312 (GRCm39) |
I476N |
probably damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,882,746 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc35b3 |
T |
A |
13: 39,128,566 (GRCm39) |
T174S |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,283,581 (GRCm39) |
I467F |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,079 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
T |
A |
5: 77,207,325 (GRCm39) |
I361N |
probably damaging |
Het |
| Tmem59 |
T |
C |
4: 107,043,082 (GRCm39) |
|
probably null |
Het |
| Tnr |
G |
A |
1: 159,746,585 (GRCm39) |
E1235K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,869,459 (GRCm39) |
R2015S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,565,370 (GRCm39) |
E132G |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,227,706 (GRCm39) |
N93S |
probably benign |
Het |
| Wdr17 |
T |
G |
8: 55,101,265 (GRCm39) |
I994L |
probably benign |
Het |
| Zfat |
G |
T |
15: 68,037,696 (GRCm39) |
H926Q |
probably damaging |
Het |
| Zfp2 |
C |
T |
11: 50,791,627 (GRCm39) |
E139K |
possibly 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 |
|
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 |
|
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'- TGCTTGTAGAACCCAGTGTGG -3'
(R):5'- GAACAGGCTACGTGGGTTTG -3'
Sequencing Primer
(F):5'- TTAGCAGCGCTCGATCAG -3'
(R):5'- GTTTGCACCCCAGCTGTCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation