Incidental Mutation 'IGL02664:Mllt3'
ID |
302666 |
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 # |
IGL02664
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87949860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 29
(W29G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000142454]
|
AlphaFold |
A2AM29 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078090
AA Change: W32G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077232 Gene: ENSMUSG00000028496 AA Change: W32G
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: ENSMUST00000130576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141526
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142454
AA Change: W29G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127376 Gene: ENSMUSG00000028496 AA Change: W29G
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
T |
5: 36,006,860 (GRCm39) |
D425V |
probably damaging |
Het |
Afdn |
G |
T |
17: 14,072,728 (GRCm39) |
|
probably benign |
Het |
Afg2a |
A |
G |
3: 37,490,814 (GRCm39) |
D453G |
probably damaging |
Het |
Ap2a2 |
C |
T |
7: 141,209,136 (GRCm39) |
T776I |
probably benign |
Het |
Apcdd1 |
T |
C |
18: 63,084,891 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,188,047 (GRCm39) |
Y1513N |
probably benign |
Het |
Btaf1 |
T |
C |
19: 36,955,828 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
A |
T |
7: 100,068,922 (GRCm39) |
M917L |
possibly damaging |
Het |
Cmtm6 |
T |
C |
9: 114,575,613 (GRCm39) |
V174A |
probably benign |
Het |
Cyp2d12 |
T |
A |
15: 82,443,535 (GRCm39) |
I448K |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,585,247 (GRCm39) |
I101V |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,671,388 (GRCm39) |
Y961H |
probably damaging |
Het |
Dnaaf1 |
T |
G |
8: 120,309,260 (GRCm39) |
I116S |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,854,451 (GRCm39) |
I5F |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,732,538 (GRCm39) |
E691G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,201,922 (GRCm39) |
V384A |
probably damaging |
Het |
Ftcd |
T |
C |
10: 76,420,439 (GRCm39) |
M391T |
probably damaging |
Het |
Gab2 |
T |
G |
7: 96,953,389 (GRCm39) |
S587R |
probably damaging |
Het |
Gm18856 |
G |
A |
13: 14,139,809 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
T |
7: 55,785,426 (GRCm39) |
R1559* |
probably null |
Het |
Inpp5f |
G |
A |
7: 128,265,738 (GRCm39) |
R161H |
probably damaging |
Het |
Iws1 |
A |
T |
18: 32,203,217 (GRCm39) |
D31V |
possibly damaging |
Het |
Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
Lce6a |
A |
T |
3: 92,527,607 (GRCm39) |
C67S |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,233,038 (GRCm39) |
I800V |
possibly damaging |
Het |
Mis18bp1 |
A |
C |
12: 65,200,654 (GRCm39) |
Y407* |
probably null |
Het |
Mon2 |
A |
G |
10: 122,845,401 (GRCm39) |
|
probably benign |
Het |
Mtbp |
C |
T |
15: 55,483,039 (GRCm39) |
T372M |
probably benign |
Het |
Nefm |
A |
T |
14: 68,357,664 (GRCm39) |
|
probably benign |
Het |
Nf1 |
A |
T |
11: 79,335,424 (GRCm39) |
|
probably null |
Het |
Nf1 |
G |
A |
11: 79,335,425 (GRCm39) |
|
probably null |
Het |
Ntn1 |
T |
A |
11: 68,276,295 (GRCm39) |
I218F |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,648,109 (GRCm39) |
S613R |
possibly damaging |
Het |
Or14a259 |
C |
T |
7: 86,012,811 (GRCm39) |
V245I |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,434,134 (GRCm39) |
D1411E |
probably damaging |
Het |
Prl2b1 |
G |
T |
13: 27,569,225 (GRCm39) |
N124K |
possibly damaging |
Het |
Rab15 |
T |
C |
12: 76,851,225 (GRCm39) |
I30M |
possibly damaging |
Het |
Rnf215 |
G |
T |
11: 4,090,307 (GRCm39) |
V342L |
probably damaging |
Het |
Saxo4 |
A |
T |
19: 10,459,655 (GRCm39) |
S17R |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,036,234 (GRCm39) |
I908N |
probably damaging |
Het |
Trim54 |
A |
G |
5: 31,293,391 (GRCm39) |
N205S |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,697,795 (GRCm39) |
T80I |
possibly damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,488,344 (GRCm39) |
T685I |
possibly damaging |
Het |
Vwa5b2 |
T |
C |
16: 20,414,063 (GRCm39) |
|
probably benign |
Het |
Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
Zfp40 |
G |
A |
17: 23,395,960 (GRCm39) |
S209F |
probably benign |
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 |
IGL01078:Mllt3
|
APN |
4 |
87,798,297 (GRCm39) |
splice site |
probably benign |
|
IGL01337:Mllt3
|
APN |
4 |
87,759,057 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |