Incidental Mutation 'IGL01074:Mllt3'
ID |
50857 |
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 # |
IGL01074
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 87710118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 29
(V29L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000126353]
[ENSMUST00000148059]
[ENSMUST00000149357]
|
AlphaFold |
A2AM29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078090
AA Change: V436L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077232 Gene: ENSMUSG00000028496 AA Change: V436L
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 |
unknown
Transcript: ENSMUST00000126353
AA Change: V29L
|
SMART Domains |
Protein: ENSMUSP00000129523 Gene: ENSMUSG00000028496 AA Change: V29L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
PDB:2LM0|A
|
76 |
138 |
1e-29 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148059
|
SMART Domains |
Protein: ENSMUSP00000131095 Gene: ENSMUSG00000028496
Domain | Start | End | E-Value | Type |
PDB:2LM0|A
|
1 |
54 |
6e-34 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149357
AA Change: V29L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128366 Gene: ENSMUSG00000028496 AA Change: V29L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
PDB:2LM0|A
|
76 |
162 |
4e-54 |
PDB |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,238 (GRCm39) |
D491G |
possibly damaging |
Het |
Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,155,282 (GRCm39) |
R228G |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
Or4c116 |
T |
C |
2: 88,942,023 (GRCm39) |
T278A |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,874,674 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
T |
C |
15: 82,198,491 (GRCm39) |
S343P |
possibly damaging |
Het |
|
Other mutations in Mllt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |