Incidental Mutation 'R4746:Cbfa2t2'
| ID |
356710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbfa2t2
|
| Ensembl Gene |
ENSMUSG00000038533 |
| Gene Name |
CBFA2/RUNX1 translocation partner 2 |
| Synonyms |
Cbfa2t2h, MTGR1, C330013D05Rik |
| MMRRC Submission |
041968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R4746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154278401-154381276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 154365845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 352
(M352L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045270]
[ENSMUST00000099178]
[ENSMUST00000109725]
|
| AlphaFold |
O70374 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045270
AA Change: M352L
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: M352L
| 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: M352L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: M352L
| 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 |
possibly damaging
Transcript: ENSMUST00000109725
AA Change: M352L
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: M352L
| 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 |
unknown
Transcript: ENSMUST00000137526
AA Change: M57L
|
| SMART Domains |
Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533
AA Change: M57L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154487
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,282,685 (GRCm39) |
S180N |
probably benign |
Het |
| Atp5f1a |
G |
T |
18: 77,866,442 (GRCm39) |
G165V |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,631,082 (GRCm39) |
D98E |
probably damaging |
Het |
| Cfap20 |
A |
G |
8: 96,148,684 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,077,210 (GRCm39) |
C379S |
possibly damaging |
Het |
| Cic |
G |
A |
7: 24,987,905 (GRCm39) |
G1531E |
probably damaging |
Het |
| Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,107,756 (GRCm39) |
K71E |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,359,080 (GRCm39) |
I210N |
probably benign |
Het |
| Donson |
A |
C |
16: 91,479,125 (GRCm39) |
V397G |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,361,966 (GRCm39) |
V332L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,080 (GRCm39) |
S1343P |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,254,120 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
| Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
C |
A |
4: 155,627,531 (GRCm39) |
A104E |
probably damaging |
Het |
| Gnptg |
ATTGTTGATGATTT |
AT |
17: 25,454,571 (GRCm39) |
|
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,308 (GRCm39) |
D50V |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,642,209 (GRCm39) |
S410P |
probably benign |
Het |
| Kif26b |
C |
T |
1: 178,701,546 (GRCm39) |
Q642* |
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,355,176 (GRCm39) |
M215K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,626 (GRCm39) |
N337S |
possibly damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,514 (GRCm39) |
A170V |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,909,144 (GRCm39) |
W214R |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,416,027 (GRCm39) |
T79P |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,126,663 (GRCm39) |
V26A |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,195,955 (GRCm39) |
F353S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,970,634 (GRCm39) |
|
probably null |
Het |
| Ocstamp |
T |
C |
2: 165,238,208 (GRCm39) |
K352R |
probably benign |
Het |
| Or2t35 |
A |
T |
14: 14,407,359 (GRCm38) |
I46F |
probably benign |
Het |
| Or8b12 |
G |
T |
9: 37,657,453 (GRCm39) |
V8L |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,305,654 (GRCm39) |
N434S |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,512,749 (GRCm39) |
L645V |
probably benign |
Het |
| Polr1has |
A |
T |
17: 37,275,765 (GRCm39) |
I116L |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,500 (GRCm39) |
S1540P |
probably benign |
Het |
| Ppp2r3c |
A |
T |
12: 55,349,420 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,082,236 (GRCm39) |
V414A |
possibly damaging |
Het |
| Pyroxd2 |
G |
A |
19: 42,740,839 (GRCm39) |
R22* |
probably null |
Het |
| Rab11fip2 |
G |
A |
19: 59,925,542 (GRCm39) |
A225V |
probably damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,328,492 (GRCm39) |
A2836V |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,449,591 (GRCm39) |
R28* |
probably null |
Het |
| Scyl3 |
G |
A |
1: 163,776,820 (GRCm39) |
R404Q |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,283,090 (GRCm39) |
K79* |
probably null |
Het |
| Sowaha |
A |
T |
11: 53,370,163 (GRCm39) |
|
probably null |
Het |
| Tnk1 |
A |
G |
11: 69,745,992 (GRCm39) |
V311A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,789,220 (GRCm39) |
S1680T |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,158 (GRCm39) |
Y335C |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,162,340 (GRCm39) |
V308A |
probably benign |
Het |
| Ttll3 |
A |
C |
6: 113,384,353 (GRCm39) |
Q557P |
probably damaging |
Het |
| Ulk3 |
G |
A |
9: 57,500,201 (GRCm39) |
A266T |
probably benign |
Het |
| Wfdc6b |
C |
A |
2: 164,459,353 (GRCm39) |
C138* |
probably null |
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 |
|
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 |
|
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'- AGTGGTCTGTATAAGTAACAAAGTCTA -3'
(R):5'- GTTGCTGAGAGAATCTGTACTCCC -3'
Sequencing Primer
(F):5'- AGTACTGGCTCCTCTTGTAGAAGAC -3'
(R):5'- AGAGAATCTGTACTCCCAGGGC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation