Incidental Mutation 'IGL00941:Mllt1'
| ID |
29287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mllt1
|
| Ensembl Gene |
ENSMUSG00000024212 |
| Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1 |
| Synonyms |
ENL, BAM11, LTG19 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57199611-57242415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57202086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 428
(S428R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025053]
|
| AlphaFold |
Q9ERL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025053
AA Change: S428R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212
AA Change: S428R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
29 |
110 |
1.9e-28 |
PFAM |
|
low complexity region
|
284 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
464 |
N/A |
INTRINSIC |
|
PDB:2LM0|A
|
465 |
547 |
3e-31 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,536,104 (GRCm39) |
I521S |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,870,376 (GRCm39) |
K265I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,889,187 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,153,082 (GRCm39) |
Y215H |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,082,729 (GRCm39) |
M393V |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,229,365 (GRCm39) |
I242V |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,118,727 (GRCm39) |
L657F |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,327 (GRCm39) |
V675M |
probably damaging |
Het |
| Fgf21 |
A |
G |
7: 45,264,597 (GRCm39) |
V45A |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,836,255 (GRCm39) |
I412T |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,749 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
A |
T |
4: 88,521,551 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,389,856 (GRCm39) |
M471V |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,794 (GRCm39) |
V73I |
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,920,652 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
A |
6: 57,501,740 (GRCm39) |
H141L |
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,480,599 (GRCm39) |
C392F |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,727 (GRCm39) |
F550L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Stk36 |
T |
A |
1: 74,663,093 (GRCm39) |
M588K |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,471,808 (GRCm39) |
A415T |
probably benign |
Het |
| Zfp839 |
C |
A |
12: 110,827,382 (GRCm39) |
S424R |
probably damaging |
Het |
| Zkscan6 |
G |
T |
11: 65,705,573 (GRCm39) |
G95W |
probably damaging |
Het |
|
| Other mutations in Mllt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02554:Mllt1
|
APN |
17 |
57,206,806 (GRCm39) |
missense |
probably benign |
|
|
IGL03064:Mllt1
|
APN |
17 |
57,207,094 (GRCm39) |
missense |
probably benign |
0.03 |
|
Weissblut
|
UTSW |
17 |
57,212,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2176:Mllt1
|
UTSW |
17 |
57,204,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4455:Mllt1
|
UTSW |
17 |
57,226,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Mllt1
|
UTSW |
17 |
57,209,630 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4864:Mllt1
|
UTSW |
17 |
57,212,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4914:Mllt1
|
UTSW |
17 |
57,206,813 (GRCm39) |
missense |
probably benign |
|
|
R4916:Mllt1
|
UTSW |
17 |
57,206,813 (GRCm39) |
missense |
probably benign |
|
|
R4917:Mllt1
|
UTSW |
17 |
57,206,813 (GRCm39) |
missense |
probably benign |
|
|
R4918:Mllt1
|
UTSW |
17 |
57,206,813 (GRCm39) |
missense |
probably benign |
|
|
R6169:Mllt1
|
UTSW |
17 |
57,206,822 (GRCm39) |
missense |
probably benign |
|
|
R6508:Mllt1
|
UTSW |
17 |
57,234,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Mllt1
|
UTSW |
17 |
57,234,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Mllt1
|
UTSW |
17 |
57,207,295 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9094:Mllt1
|
UTSW |
17 |
57,212,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Mllt1
|
UTSW |
17 |
57,207,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Mllt1
|
UTSW |
17 |
57,209,572 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF002:Mllt1
|
UTSW |
17 |
57,203,301 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
RF002:Mllt1
|
UTSW |
17 |
57,203,300 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2013-04-17 |
Incidental Mutation