Incidental Mutation 'IGL01078:Mllt3'
| ID |
50863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mllt3
|
| Ensembl Gene |
ENSMUSG00000028496 |
| Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 |
| Synonyms |
Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 87798297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000142454]
|
| AlphaFold |
A2AM29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078090
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
29 |
110 |
2.3e-29 |
PFAM |
|
SCOP:d1l9ha_
|
126 |
173 |
9e-3 |
SMART |
|
internal_repeat_1
|
195 |
214 |
9.17e-5 |
PROSPERO |
|
internal_repeat_1
|
206 |
225 |
9.17e-5 |
PROSPERO |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
314 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
315 |
467 |
7e-4 |
SMART |
|
PDB:2LM0|A
|
485 |
569 |
3e-48 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142454
|
| SMART Domains |
Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
26 |
66 |
2.6e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1a |
C |
T |
8: 84,866,894 (GRCm39) |
V393M |
possibly damaging |
Het |
| Dpep3 |
G |
A |
8: 106,704,860 (GRCm39) |
A150V |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,242,013 (GRCm39) |
E112G |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 93,934,019 (GRCm39) |
I760T |
probably damaging |
Het |
| Or5p56 |
T |
A |
7: 107,590,150 (GRCm39) |
S193T |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,469,001 (GRCm39) |
|
probably benign |
Het |
| Trp53inp1 |
T |
A |
4: 11,165,369 (GRCm39) |
V131D |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
| Zfyve19 |
T |
A |
2: 119,046,981 (GRCm39) |
C350* |
probably null |
Het |
|
| Other mutations in Mllt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Mllt3
|
APN |
4 |
87,710,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01337:Mllt3
|
APN |
4 |
87,759,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02664:Mllt3
|
APN |
4 |
87,949,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Mllt3
|
UTSW |
4 |
87,692,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Mllt3
|
UTSW |
4 |
87,758,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0415:Mllt3
|
UTSW |
4 |
87,759,576 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0540:Mllt3
|
UTSW |
4 |
87,759,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0618:Mllt3
|
UTSW |
4 |
87,759,504 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0932:Mllt3
|
UTSW |
4 |
87,707,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1713:Mllt3
|
UTSW |
4 |
87,701,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Mllt3
|
UTSW |
4 |
87,759,018 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4928:Mllt3
|
UTSW |
4 |
87,700,642 (GRCm39) |
splice site |
probably null |
|
|
R5086:Mllt3
|
UTSW |
4 |
87,707,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5186:Mllt3
|
UTSW |
4 |
87,759,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5359:Mllt3
|
UTSW |
4 |
87,759,164 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5371:Mllt3
|
UTSW |
4 |
87,759,093 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5713:Mllt3
|
UTSW |
4 |
87,759,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5787:Mllt3
|
UTSW |
4 |
87,759,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6346:Mllt3
|
UTSW |
4 |
87,759,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Mllt3
|
UTSW |
4 |
87,692,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Mllt3
|
UTSW |
4 |
87,759,034 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6629:Mllt3
|
UTSW |
4 |
87,759,504 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7380:Mllt3
|
UTSW |
4 |
87,710,180 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7600:Mllt3
|
UTSW |
4 |
87,759,456 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8045:Mllt3
|
UTSW |
4 |
87,759,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Mllt3
|
UTSW |
4 |
87,759,552 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9281:Mllt3
|
UTSW |
4 |
87,707,566 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9300:Mllt3
|
UTSW |
4 |
87,692,284 (GRCm39) |
nonsense |
probably null |
|
|
R9341:Mllt3
|
UTSW |
4 |
87,792,168 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9343:Mllt3
|
UTSW |
4 |
87,792,168 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9544:Mllt3
|
UTSW |
4 |
87,759,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation