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, D4Ertd321e, 2610012I03Rik, 3830408D16Rik, 2210011H10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
87769925-88033364 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87791881 bp (GRCm38)
|
| 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: 80,013,892 |
D1934G |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,796,654 |
I203N |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,522,845 |
V1304A |
probably damaging |
Het |
| Cmah |
A |
G |
13: 24,464,255 |
D491G |
possibly damaging |
Het |
| Cobll1 |
A |
G |
2: 65,107,848 |
S364P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,898,865 |
L2320P |
probably damaging |
Het |
| Defa5 |
T |
A |
8: 21,297,576 |
F46L |
possibly damaging |
Het |
| Erich6b |
T |
A |
14: 75,658,768 |
N31K |
probably benign |
Het |
| Fcrl6 |
C |
T |
1: 172,599,113 |
V89M |
possibly damaging |
Het |
| Gm5458 |
G |
T |
14: 19,599,692 |
L155I |
probably damaging |
Het |
| Hlx |
T |
C |
1: 184,727,813 |
D376G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,627,033 |
S3948P |
possibly damaging |
Het |
| Igf2bp2 |
G |
A |
16: 22,063,704 |
R416W |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 39,098,488 |
|
probably null |
Het |
| Lingo4 |
T |
C |
3: 94,403,288 |
V511A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,110,584 |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,279,384 |
R228G |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,779,585 |
N802S |
possibly damaging |
Het |
| Nmu |
C |
A |
5: 76,343,927 |
V121F |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,217,811 |
T760A |
probably damaging |
Het |
| Ogfod1 |
G |
T |
8: 94,063,006 |
W445L |
probably damaging |
Het |
| Olfr1221 |
T |
C |
2: 89,111,679 |
T278A |
probably benign |
Het |
| Oplah |
G |
A |
15: 76,305,748 |
P222S |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,179,774 |
L699H |
probably damaging |
Het |
| Sod3 |
C |
T |
5: 52,368,198 |
Q80* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,031,587 |
Q4732* |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,987,011 |
I3678T |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,163,188 |
R357* |
probably null |
Het |
| Tmem220 |
T |
C |
11: 67,032,173 |
|
probably benign |
Het |
| Uhrf1bp1 |
A |
G |
17: 27,879,291 |
I136V |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 46,225,250 |
|
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,314,290 |
S343P |
possibly damaging |
Het |
|
| Other mutations in Mllt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Mllt3
|
APN |
4 |
87,880,060 (GRCm38) |
splice site |
probably benign |
|
|
IGL01337:Mllt3
|
APN |
4 |
87,840,820 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02664:Mllt3
|
APN |
4 |
88,031,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Mllt3
|
UTSW |
4 |
87,774,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Mllt3
|
UTSW |
4 |
87,840,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0415:Mllt3
|
UTSW |
4 |
87,841,339 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0540:Mllt3
|
UTSW |
4 |
87,841,044 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0618:Mllt3
|
UTSW |
4 |
87,841,267 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0932:Mllt3
|
UTSW |
4 |
87,789,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1713:Mllt3
|
UTSW |
4 |
87,783,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:Mllt3
|
UTSW |
4 |
87,840,781 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4928:Mllt3
|
UTSW |
4 |
87,782,405 (GRCm38) |
splice site |
probably null |
|
|
R5086:Mllt3
|
UTSW |
4 |
87,789,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5186:Mllt3
|
UTSW |
4 |
87,840,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5359:Mllt3
|
UTSW |
4 |
87,840,927 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5371:Mllt3
|
UTSW |
4 |
87,840,856 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5713:Mllt3
|
UTSW |
4 |
87,841,211 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5787:Mllt3
|
UTSW |
4 |
87,840,820 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6346:Mllt3
|
UTSW |
4 |
87,841,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6462:Mllt3
|
UTSW |
4 |
87,774,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6621:Mllt3
|
UTSW |
4 |
87,840,797 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6629:Mllt3
|
UTSW |
4 |
87,841,267 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7380:Mllt3
|
UTSW |
4 |
87,791,943 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7600:Mllt3
|
UTSW |
4 |
87,841,219 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8045:Mllt3
|
UTSW |
4 |
87,841,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8871:Mllt3
|
UTSW |
4 |
87,841,315 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9281:Mllt3
|
UTSW |
4 |
87,789,329 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9300:Mllt3
|
UTSW |
4 |
87,774,047 (GRCm38) |
nonsense |
probably null |
|
|
R9341:Mllt3
|
UTSW |
4 |
87,873,931 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9343:Mllt3
|
UTSW |
4 |
87,873,931 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9544:Mllt3
|
UTSW |
4 |
87,841,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation