Incidental Mutation 'R4059:Runx1t1'
ID |
314374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Runx1t1
|
Ensembl Gene |
ENSMUSG00000006586 |
Gene Name |
RUNX1 translocation partner 1 |
Synonyms |
ETO, Cbfa2t1h, MTG8 |
MMRRC Submission |
040970-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
R4059 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13889769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 566
(V566A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006761]
[ENSMUST00000098256]
[ENSMUST00000098257]
[ENSMUST00000105566]
|
AlphaFold |
Q61909 |
Predicted Effect |
unknown
Transcript: ENSMUST00000006761
AA Change: V546A
|
SMART Domains |
Protein: ENSMUSP00000006761 Gene: ENSMUSG00000006586 AA Change: V546A
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
low complexity region
|
68 |
96 |
N/A |
INTRINSIC |
TAFH
|
102 |
192 |
1.12e-53 |
SMART |
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
Pfam:NHR2
|
317 |
383 |
6.9e-42 |
PFAM |
SCOP:d1gpua1
|
384 |
454 |
7e-3 |
SMART |
PDB:2KYG|C
|
417 |
447 |
2e-12 |
PDB |
Pfam:zf-MYND
|
495 |
531 |
4e-10 |
PFAM |
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
low complexity region
|
562 |
583 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000098256
AA Change: V539A
|
SMART Domains |
Protein: ENSMUSP00000095856 Gene: ENSMUSG00000006586 AA Change: V539A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
41 |
N/A |
INTRINSIC |
low complexity region
|
61 |
89 |
N/A |
INTRINSIC |
TAFH
|
95 |
185 |
1.12e-53 |
SMART |
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
Pfam:NHR2
|
310 |
376 |
7.3e-42 |
PFAM |
SCOP:d1gpua1
|
377 |
447 |
7e-3 |
SMART |
PDB:2KYG|C
|
410 |
440 |
2e-12 |
PDB |
Pfam:zf-MYND
|
488 |
524 |
2.5e-10 |
PFAM |
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
low complexity region
|
555 |
576 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098257
AA Change: V566A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095857 Gene: ENSMUSG00000006586 AA Change: V566A
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
TAFH
|
122 |
212 |
1.12e-53 |
SMART |
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
Pfam:NHR2
|
337 |
403 |
5.2e-43 |
PFAM |
SCOP:d1gpua1
|
404 |
474 |
7e-3 |
SMART |
PDB:2KYG|C
|
437 |
467 |
2e-12 |
PDB |
Pfam:zf-MYND
|
515 |
551 |
6.7e-10 |
PFAM |
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
low complexity region
|
582 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105566
AA Change: V566A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127109 Gene: ENSMUSG00000006586 AA Change: V566A
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
TAFH
|
122 |
212 |
1.12e-53 |
SMART |
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
Pfam:NHR2
|
337 |
403 |
3.6e-42 |
PFAM |
SCOP:d1gpua1
|
404 |
474 |
7e-3 |
SMART |
PDB:2KYG|C
|
437 |
467 |
2e-12 |
PDB |
Pfam:zf-MYND
|
515 |
551 |
1.4e-10 |
PFAM |
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
low complexity region
|
582 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139736
|
Meta Mutation Damage Score |
0.0691 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (54/55) |
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(8;21)(q22;q22) translocation is one of the most frequent 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. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] PHENOTYPE: Homozygous disruption of this gene results in increased perinatal lethality and surviving animals show severe growth retardation. The midgut is absent in 25% of mutant animals which could explain increased perinatal mortality. Surviving animals display thinned intestinal walls and dilated lumens. [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 |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
probably benign |
Het |
|
Other mutations in Runx1t1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Runx1t1
|
APN |
4 |
13,835,663 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01600:Runx1t1
|
APN |
4 |
13,841,871 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02120:Runx1t1
|
APN |
4 |
13,846,884 (GRCm39) |
missense |
probably benign |
|
IGL02172:Runx1t1
|
APN |
4 |
13,859,924 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02429:Runx1t1
|
APN |
4 |
13,865,294 (GRCm39) |
splice site |
probably benign |
|
IGL02730:Runx1t1
|
APN |
4 |
13,860,019 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02870:Runx1t1
|
APN |
4 |
13,889,867 (GRCm39) |
missense |
unknown |
|
IGL02879:Runx1t1
|
APN |
4 |
13,889,868 (GRCm39) |
missense |
unknown |
|
IGL03369:Runx1t1
|
APN |
4 |
13,881,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03047:Runx1t1
|
UTSW |
4 |
13,865,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Runx1t1
|
UTSW |
4 |
13,835,628 (GRCm39) |
splice site |
probably benign |
|
R1884:Runx1t1
|
UTSW |
4 |
13,835,767 (GRCm39) |
missense |
probably benign |
0.00 |
R2277:Runx1t1
|
UTSW |
4 |
13,771,501 (GRCm39) |
missense |
probably benign |
0.00 |
R4505:Runx1t1
|
UTSW |
4 |
13,889,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Runx1t1
|
UTSW |
4 |
13,889,864 (GRCm39) |
missense |
unknown |
|
R4586:Runx1t1
|
UTSW |
4 |
13,889,864 (GRCm39) |
missense |
unknown |
|
R4758:Runx1t1
|
UTSW |
4 |
13,865,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Runx1t1
|
UTSW |
4 |
13,837,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R4796:Runx1t1
|
UTSW |
4 |
13,837,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R4897:Runx1t1
|
UTSW |
4 |
13,771,459 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R4971:Runx1t1
|
UTSW |
4 |
13,837,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R5009:Runx1t1
|
UTSW |
4 |
13,865,231 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5091:Runx1t1
|
UTSW |
4 |
13,846,830 (GRCm39) |
nonsense |
probably null |
|
R5844:Runx1t1
|
UTSW |
4 |
13,881,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R5968:Runx1t1
|
UTSW |
4 |
13,841,890 (GRCm39) |
splice site |
probably null |
|
R5993:Runx1t1
|
UTSW |
4 |
13,875,490 (GRCm39) |
missense |
probably benign |
0.00 |
R5993:Runx1t1
|
UTSW |
4 |
13,841,863 (GRCm39) |
missense |
probably damaging |
0.98 |
R6329:Runx1t1
|
UTSW |
4 |
13,785,136 (GRCm39) |
start codon destroyed |
probably null |
0.38 |
R6915:Runx1t1
|
UTSW |
4 |
13,865,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R7283:Runx1t1
|
UTSW |
4 |
13,846,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R8251:Runx1t1
|
UTSW |
4 |
13,846,947 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9301:Runx1t1
|
UTSW |
4 |
13,875,477 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9376:Runx1t1
|
UTSW |
4 |
13,865,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9390:Runx1t1
|
UTSW |
4 |
13,865,932 (GRCm39) |
missense |
probably benign |
0.14 |
Z1088:Runx1t1
|
UTSW |
4 |
13,865,892 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGATGCCTTCCCTGTTTACTAG -3'
(R):5'- AGGGACTTTGAGCATCTGAGG -3'
Sequencing Primer
(F):5'- ACCTTCATGAATATTCACCTGGG -3'
(R):5'- ATCTGAGGATGAGGAATTGCTTTC -3'
|
Posted On |
2015-04-30 |