Incidental Mutation 'IGL02095:Cbfa2t3'
ID |
279599 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cbfa2t3
|
Ensembl Gene |
ENSMUSG00000006362 |
Gene Name |
CBFA2/RUNX1 translocation partner 3 |
Synonyms |
MTGR2, A630044F12Rik, ETO-2, Eto2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02095
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
123351880-123425848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123360232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 438
(E438G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006525]
[ENSMUST00000064674]
[ENSMUST00000127664]
[ENSMUST00000127984]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006525
AA Change: E412G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006525 Gene: ENSMUSG00000006362 AA Change: E412G
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: E438G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065728 Gene: ENSMUSG00000006362 AA Change: E438G
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: E473G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118997 Gene: ENSMUSG00000006362 AA Change: E473G
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 |
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cbfa2t3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2015-04-16 |