Incidental Mutation 'IGL02730:Runx1t1'
ID |
305425 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Runx1t1
|
Ensembl Gene |
ENSMUSG00000006586 |
Gene Name |
RUNX1 translocation partner 1 |
Synonyms |
ETO, Cbfa2t1h, MTG8 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
IGL02730
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 13860019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 317
(H317Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006761]
[ENSMUST00000098256]
[ENSMUST00000098257]
[ENSMUST00000105566]
|
AlphaFold |
Q61909 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006761
AA Change: H297Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000006761 Gene: ENSMUSG00000006586 AA Change: H297Y
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 |
probably benign
Transcript: ENSMUST00000098256
AA Change: H290Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000095856 Gene: ENSMUSG00000006586 AA Change: H290Y
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: H317Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000095857 Gene: ENSMUSG00000006586 AA Change: H317Y
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: H317Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000127109 Gene: ENSMUSG00000006586 AA Change: H317Y
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 |
|
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(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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,215,390 (GRCm39) |
V316E |
probably benign |
Het |
Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,142,709 (GRCm39) |
T215A |
probably damaging |
Het |
Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
Nlrp4b |
T |
C |
7: 10,448,685 (GRCm39) |
F296S |
probably damaging |
Het |
Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,750 (GRCm39) |
Y218N |
probably damaging |
Het |
Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,823,242 (GRCm39) |
D70G |
possibly damaging |
Het |
Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
probably damaging |
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 |
|
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 |
R4059:Runx1t1
|
UTSW |
4 |
13,889,769 (GRCm39) |
missense |
probably benign |
0.33 |
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 |
|
Posted On |
2015-04-16 |