Incidental Mutation 'R6462:Mllt3'
| ID |
517630 |
| 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 |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87692338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000126353]
[ENSMUST00000148059]
[ENSMUST00000149357]
|
| AlphaFold |
A2AM29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078090
AA Change: T542A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: T542A
| 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 |
probably damaging
Transcript: ENSMUST00000126353
AA Change: T111A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129523
Gene: ENSMUSG00000028496
AA Change: T111A
| 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 |
probably damaging
Transcript: ENSMUST00000148059
AA Change: T27A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131095
Gene: ENSMUSG00000028496
AA Change: T27A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LM0|A
|
1 |
54 |
6e-34 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149357
AA Change: T135A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128366
Gene: ENSMUSG00000028496
AA Change: T135A
| 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 |
|
| Meta Mutation Damage Score |
0.1280 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGAGGCTGGTTTAGGTAAC -3'
(R):5'- CAGGTAGTTTGGAAATAGTATAGCC -3'
Sequencing Primer
(F):5'- GGTAACCTCTCCTTTATCAAGAGATG -3'
(R):5'- AGTTTGGAAATAGTATAGCCTTGTTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation