Incidental Mutation 'R6629:Mllt3'
| ID |
524970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mllt3
|
| Ensembl Gene |
ENSMUSG00000028496 |
| Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 |
| Synonyms |
Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik |
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
117.467 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT to ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT
at 87759504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000142454]
|
| AlphaFold |
A2AM29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078090
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCCTTGAAGGCCATCTTAG -3'
(R):5'- CTTGTTGGTGAAGGCCCATG -3'
Sequencing Primer
(F):5'- TTTCTTCTTTCAGTGGTTTGTTTTC -3'
(R):5'- GAAATAATCTTATGGTTGGGGCCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation