Incidental Mutation 'IGL00425:Runx1t1'
| ID |
6711 |
| 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 # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13835663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
| 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: D20G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: D20G
| 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: D13G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: D13G
| 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: D40G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: D40G
| 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: D40G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: D40G
| 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: ENSMUST00000150583
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,872,836 (GRCm39) |
T125A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,765 (GRCm39) |
S111P |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,102,609 (GRCm39) |
L208R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,500,559 (GRCm39) |
N495D |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,650,559 (GRCm39) |
N45D |
probably damaging |
Het |
|
| Other mutations in Runx1t1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation