Incidental Mutation 'R7622:Cbfa2t2'
| ID |
589179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbfa2t2
|
| Ensembl Gene |
ENSMUSG00000038533 |
| Gene Name |
CBFA2/RUNX1 translocation partner 2 |
| Synonyms |
Cbfa2t2h, MTGR1, C330013D05Rik |
| MMRRC Submission |
045717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
R7622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154342365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 27
(E27G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109724]
[ENSMUST00000109725]
|
| AlphaFold |
O70374 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045270
AA Change: E27G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: E27G
| 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 |
possibly damaging
Transcript: ENSMUST00000099178
AA Change: E27G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: E27G
| 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: ENSMUST00000109724
|
| SMART Domains |
Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
| Domain | Start | End | E-Value | Type |
|---|
|
TAFH
|
58 |
148 |
1.06e-49 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109725
AA Change: E27G
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: E27G
| 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: ENSMUSP00000116220
Gene: ENSMUSG00000038533
AA Change: E84G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
164 |
192 |
7.1e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
G |
A |
5: 129,216,688 (GRCm39) |
D384N |
probably benign |
Het |
| Aqp8 |
T |
C |
7: 123,065,883 (GRCm39) |
F226S |
possibly damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,107,339 (GRCm39) |
Y207C |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,002,562 (GRCm39) |
C1502* |
probably null |
Het |
| Cdc42bpb |
T |
G |
12: 111,261,206 (GRCm39) |
E201A |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,792,806 (GRCm39) |
V1769G |
unknown |
Het |
| Dmxl2 |
C |
T |
9: 54,379,502 (GRCm39) |
G7S |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,101,742 (GRCm39) |
F1927L |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,497,688 (GRCm39) |
E942G |
probably damaging |
Het |
| Fam170a |
A |
G |
18: 50,415,969 (GRCm39) |
R324G |
probably benign |
Het |
| Gapdhs |
G |
A |
7: 30,438,756 (GRCm39) |
T9I |
unknown |
Het |
| Gm10320 |
T |
A |
13: 98,626,232 (GRCm39) |
R51* |
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,277,501 (GRCm39) |
T1776S |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,323,441 (GRCm39) |
M94K |
possibly damaging |
Het |
| Ighv2-5 |
G |
A |
12: 113,649,358 (GRCm39) |
Q32* |
probably null |
Het |
| Klc2 |
T |
C |
19: 5,161,660 (GRCm39) |
E310G |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,478,707 (GRCm39) |
M309T |
probably damaging |
Het |
| Lrp11 |
G |
A |
10: 7,465,936 (GRCm39) |
G41R |
unknown |
Het |
| Lrrc52 |
G |
T |
1: 167,293,664 (GRCm39) |
P207Q |
probably benign |
Het |
| Lrrc52 |
G |
T |
1: 167,293,665 (GRCm39) |
P207T |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,696,526 (GRCm39) |
D2438V |
probably damaging |
Het |
| Mycbp |
C |
T |
4: 123,799,094 (GRCm39) |
T28M |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,281,846 (GRCm39) |
V804A |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,238 (GRCm39) |
I332V |
unknown |
Het |
| Ncor1 |
G |
T |
11: 62,208,794 (GRCm39) |
Q1359K |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,884,889 (GRCm39) |
D349G |
probably benign |
Het |
| Or12e1 |
A |
T |
2: 87,022,594 (GRCm39) |
I188L |
probably benign |
Het |
| Or1j21 |
A |
G |
2: 36,683,943 (GRCm39) |
K232E |
probably benign |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or8k53 |
A |
G |
2: 86,178,006 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Pate4 |
A |
G |
9: 35,519,595 (GRCm39) |
S32P |
possibly damaging |
Het |
| Pcdhb7 |
A |
C |
18: 37,475,514 (GRCm39) |
S217R |
probably benign |
Het |
| Pde1c |
G |
A |
6: 56,103,910 (GRCm39) |
R580C |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,111,841 (GRCm39) |
A1545S |
|
Het |
| Pign |
G |
T |
1: 105,575,842 (GRCm39) |
T266K |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,260,090 (GRCm39) |
I1134T |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,666,520 (GRCm39) |
V409I |
possibly damaging |
Het |
| Prr7 |
A |
G |
13: 55,620,609 (GRCm39) |
T206A |
probably benign |
Het |
| Rnf13 |
A |
T |
3: 57,727,955 (GRCm39) |
R212* |
probably null |
Het |
| Rwdd2b |
T |
C |
16: 87,231,500 (GRCm39) |
N218S |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,834 (GRCm39) |
D167G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,547 (GRCm39) |
N56Y |
probably damaging |
Het |
| Sprr3 |
G |
T |
3: 92,364,592 (GRCm39) |
T84K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,766 (GRCm39) |
H1626Q |
possibly damaging |
Het |
| Tex2 |
C |
A |
11: 106,437,721 (GRCm39) |
D650Y |
unknown |
Het |
| Tmprss6 |
A |
G |
15: 78,330,926 (GRCm39) |
S436P |
probably benign |
Het |
| Uba2 |
A |
C |
7: 33,864,860 (GRCm39) |
F63L |
probably damaging |
Het |
| Ubxn2b |
C |
T |
4: 6,214,692 (GRCm39) |
S242L |
probably damaging |
Het |
| Vmn1r86 |
T |
G |
7: 12,836,685 (GRCm39) |
I64L |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,662 (GRCm39) |
V781E |
probably damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,097 (GRCm39) |
F641Y |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,800,231 (GRCm39) |
I1965K |
|
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wdr90 |
G |
T |
17: 26,073,083 (GRCm39) |
F837L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,834,468 (GRCm39) |
V704A |
possibly damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,033 (GRCm39) |
K268E |
probably 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 |
|
R6842:Cbfa2t2
|
UTSW |
2 |
154,365,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TGAACCCTTGGAAGCTTCATC -3'
(R):5'- TACAGGAATGCATTGCTATACCTC -3'
Sequencing Primer
(F):5'- CATCTTAATTTCTGAGTCCTCTGGGG -3'
(R):5'- GCATTGCTATACCTCAATGTGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation