Incidental Mutation 'R6842:Cbfa2t2'
| ID |
533889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbfa2t2
|
| Ensembl Gene |
ENSMUSG00000038533 |
| Gene Name |
CBFA2/RUNX1 translocation partner 2 |
| Synonyms |
Cbfa2t2h, MTGR1, C330013D05Rik |
| MMRRC Submission |
044948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R6842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154365965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 392
(T392A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109725]
|
| AlphaFold |
O70374 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045270
AA Change: T392A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: T392A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
1.3e-40 |
PFAM |
|
PDB:2KYG|C
|
420 |
450 |
3e-7 |
PDB |
|
Pfam:zf-MYND
|
498 |
534 |
1.4e-9 |
PFAM |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099178
AA Change: T392A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: T392A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
4.4e-40 |
PFAM |
|
low complexity region
|
402 |
419 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109725
AA Change: T392A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: T392A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
TAFH
|
106 |
196 |
1.06e-49 |
SMART |
|
Pfam:NHR2
|
322 |
388 |
1e-40 |
PFAM |
|
Pfam:zf-MYND
|
497 |
533 |
3.3e-11 |
PFAM |
|
low complexity region
|
572 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533
AA Change: T97A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
28 |
94 |
2e-41 |
PFAM |
|
Pfam:zf-MYND
|
203 |
239 |
3.1e-10 |
PFAM |
|
low complexity region
|
278 |
293 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
| Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
| Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,132,979 (GRCm39) |
V91A |
probably benign |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
| Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
| Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,215,640 (GRCm39) |
D419G |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,074,940 (GRCm39) |
C47S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
| Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
| Utp6 |
C |
T |
11: 79,831,775 (GRCm39) |
S504N |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,866 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly damaging |
Het |
|
| Other mutations in Cbfa2t2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:Cbfa2t2
|
APN |
2 |
154,370,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01913:Cbfa2t2
|
APN |
2 |
154,359,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02090:Cbfa2t2
|
APN |
2 |
154,373,336 (GRCm39) |
splice site |
probably benign |
|
|
IGL02850:Cbfa2t2
|
APN |
2 |
154,377,090 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0302:Cbfa2t2
|
UTSW |
2 |
154,376,796 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Cbfa2t2
|
UTSW |
2 |
154,373,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1218:Cbfa2t2
|
UTSW |
2 |
154,365,839 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1571:Cbfa2t2
|
UTSW |
2 |
154,342,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Cbfa2t2
|
UTSW |
2 |
154,346,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Cbfa2t2
|
UTSW |
2 |
154,359,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Cbfa2t2
|
UTSW |
2 |
154,359,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Cbfa2t2
|
UTSW |
2 |
154,377,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Cbfa2t2
|
UTSW |
2 |
154,278,904 (GRCm39) |
intron |
probably benign |
|
|
R4299:Cbfa2t2
|
UTSW |
2 |
154,365,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Cbfa2t2
|
UTSW |
2 |
154,365,845 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4969:Cbfa2t2
|
UTSW |
2 |
154,365,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Cbfa2t2
|
UTSW |
2 |
154,346,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Cbfa2t2
|
UTSW |
2 |
154,373,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Cbfa2t2
|
UTSW |
2 |
154,365,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Cbfa2t2
|
UTSW |
2 |
154,278,782 (GRCm39) |
intron |
probably benign |
|
|
R5808:Cbfa2t2
|
UTSW |
2 |
154,359,746 (GRCm39) |
splice site |
probably null |
|
|
R5826:Cbfa2t2
|
UTSW |
2 |
154,342,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5977:Cbfa2t2
|
UTSW |
2 |
154,359,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Cbfa2t2
|
UTSW |
2 |
154,352,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Cbfa2t2
|
UTSW |
2 |
154,376,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Cbfa2t2
|
UTSW |
2 |
154,357,895 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7318:Cbfa2t2
|
UTSW |
2 |
154,342,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7622:Cbfa2t2
|
UTSW |
2 |
154,342,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8030:Cbfa2t2
|
UTSW |
2 |
154,357,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8691:Cbfa2t2
|
UTSW |
2 |
154,342,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8977:Cbfa2t2
|
UTSW |
2 |
154,342,410 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9420:Cbfa2t2
|
UTSW |
2 |
154,352,426 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9569:Cbfa2t2
|
UTSW |
2 |
154,346,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAATTGTTACCCATCCTTGA -3'
(R):5'- GCATAGTGATCGCCAACAGG -3'
Sequencing Primer
(F):5'- ACCCATCCTTGATTTTAATGTTCC -3'
(R):5'- GTGGGAGGAAATATTCTCTCCAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation