Incidental Mutation 'IGL01337:Mllt3'
| ID |
74674 |
| 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 # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
87769925-88033364 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87840820 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 330
(D330E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000142454]
|
| AlphaFold |
A2AM29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078090
AA Change: D330E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: D330E
| 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: ENSMUST00000134555
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,668,570 (GRCm38) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,570,246 (GRCm38) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,365,114 (GRCm38) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,056,192 (GRCm38) |
P1378L |
probably benign |
Het |
| Clca2 |
T |
C |
3: 145,095,178 (GRCm38) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,192,687 (GRCm38) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,785,387 (GRCm38) |
S617P |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,530,217 (GRCm38) |
S345P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,691,615 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr182 |
T |
A |
10: 127,750,786 (GRCm38) |
I99F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,802,274 (GRCm38) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 26,924,744 (GRCm38) |
T497A |
possibly damaging |
Het |
| Mpp3 |
T |
C |
11: 102,000,585 (GRCm38) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,905,024 (GRCm38) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,327,373 (GRCm38) |
D644A |
probably damaging |
Het |
| Olfr1247 |
A |
G |
2: 89,609,376 (GRCm38) |
I242T |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,419,512 (GRCm38) |
D132G |
probably benign |
Het |
| Otof |
C |
A |
5: 30,405,777 (GRCm38) |
A242S |
possibly damaging |
Het |
| Pdk4 |
T |
A |
6: 5,491,869 (GRCm38) |
M68L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,236,291 (GRCm38) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,036,631 (GRCm38) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,629,024 (GRCm38) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,376,479 (GRCm38) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,136,510 (GRCm38) |
Y635H |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,069,331 (GRCm38) |
V163L |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,460,679 (GRCm38) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,595,314 (GRCm38) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,620,373 (GRCm38) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,737,151 (GRCm38) |
|
probably benign |
Het |
| Star |
G |
A |
8: 25,809,864 (GRCm38) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,045,664 (GRCm38) |
I203T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,205,412 (GRCm38) |
|
probably benign |
Het |
| Trim75 |
T |
C |
8: 64,983,735 (GRCm38) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,676,145 (GRCm38) |
I275N |
probably damaging |
Het |
|
| Other mutations in Mllt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Mllt3
|
APN |
4 |
87,791,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01078:Mllt3
|
APN |
4 |
87,880,060 (GRCm38) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation