Incidental Mutation 'R5968:Runx1t1'
| ID |
470692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Runx1t1
|
| Ensembl Gene |
ENSMUSG00000006586 |
| Gene Name |
RUNX1 translocation partner 1 |
| Synonyms |
ETO, Cbfa2t1h, MTG8 |
| MMRRC Submission |
043249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R5968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 13841890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006761]
[ENSMUST00000098256]
[ENSMUST00000098257]
[ENSMUST00000105566]
|
| AlphaFold |
Q61909 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006761
|
| SMART Domains |
Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
| 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 null
Transcript: ENSMUST00000098256
|
| SMART Domains |
Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
| 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 null
Transcript: ENSMUST00000098257
|
| SMART Domains |
Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
| 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 null
Transcript: ENSMUST00000105566
|
| SMART Domains |
Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
| Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
| Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
| Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
| Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
| Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
| Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
| Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
| Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
| Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
| Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
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 |
|
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 |
|
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'- TGTGATCTTGGCTTTACAAAGTCG -3'
(R):5'- GATGATCACAAATACACATAGACGG -3'
Sequencing Primer
(F):5'- GGCTTTACAAAGTCGGTAGATTTC -3'
(R):5'- TTGACCTCCGCCTAAAA -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation