Incidental Mutation 'R4505:Runx1t1'
| ID |
331959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Runx1t1
|
| Ensembl Gene |
ENSMUSG00000006586 |
| Gene Name |
RUNX1 translocation partner 1 |
| Synonyms |
ETO, Cbfa2t1h, MTG8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R4505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 13889676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 535
(C535F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006761]
[ENSMUST00000098256]
[ENSMUST00000098257]
[ENSMUST00000105566]
|
| AlphaFold |
Q61909 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006761
AA Change: C515F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: C515F
| 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 damaging
Transcript: ENSMUST00000098256
AA Change: C508F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: C508F
| 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 damaging
Transcript: ENSMUST00000098257
AA Change: C535F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: C535F
| 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 damaging
Transcript: ENSMUST00000105566
AA Change: C535F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: C535F
| 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 |
0.9737 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (50/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
| Acbd4 |
A |
G |
11: 102,995,605 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,747,727 (GRCm39) |
S428C |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,498,184 (GRCm39) |
D193E |
probably benign |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
A |
T |
1: 93,546,732 (GRCm39) |
N917I |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr20 |
T |
C |
15: 73,568,321 (GRCm39) |
T23A |
probably benign |
Het |
| Grb14 |
A |
C |
2: 64,852,912 (GRCm39) |
V26G |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,874,087 (GRCm39) |
|
silent |
Het |
| Jak1 |
T |
C |
4: 101,011,800 (GRCm39) |
T1101A |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,849,216 (GRCm39) |
P979S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,861,253 (GRCm39) |
S206P |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,845,494 (GRCm39) |
S1405P |
probably damaging |
Het |
| Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
| Or5p62 |
T |
C |
7: 107,771,175 (GRCm39) |
I259V |
probably benign |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pithd1 |
T |
C |
4: 135,706,144 (GRCm39) |
N37S |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,533 (GRCm39) |
R367* |
probably null |
Het |
| Psmb4 |
A |
C |
3: 94,793,456 (GRCm39) |
Y142D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,758,678 (GRCm39) |
N181S |
possibly damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,345 (GRCm39) |
L370P |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Serpinb9g |
T |
A |
13: 33,670,546 (GRCm39) |
F11L |
probably damaging |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,516,894 (GRCm39) |
Q201P |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tjp2 |
T |
C |
19: 24,086,195 (GRCm39) |
T776A |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,845,738 (GRCm39) |
V162I |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,793 (GRCm39) |
T2685A |
possibly damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,880,845 (GRCm39) |
T62I |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,846,316 (GRCm39) |
Q2128L |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,353,561 (GRCm39) |
E76G |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,160 (GRCm39) |
S532P |
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 |
|
|
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 |
|
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'- TGAATCGTCCATTTTGTCTCTGTAG -3'
(R):5'- AGTTTAGGTCTAGCGAGGCG -3'
Sequencing Primer
(F):5'- CCATTTTGTCTCTGTAGCTCTTGGAG -3'
(R):5'- CGAGGCGTCGTCTCTATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation