Incidental Mutation 'R9341:Mllt3'
ID |
707482 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9341 (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 A
at 87792168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 109
(E109D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000142454]
|
AlphaFold |
A2AM29 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078090
AA Change: E109D
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000077232 Gene: ENSMUSG00000028496 AA Change: E109D
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 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (48/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat2 |
T |
C |
17: 13,167,538 (GRCm39) |
N166S |
probably damaging |
Het |
Agap2 |
G |
C |
10: 126,927,559 (GRCm39) |
G1147R |
unknown |
Het |
Atp8b2 |
A |
T |
3: 89,855,811 (GRCm39) |
F446I |
possibly damaging |
Het |
Cacna2d3 |
A |
T |
14: 28,704,315 (GRCm39) |
M822K |
possibly damaging |
Het |
Caskin1 |
A |
G |
17: 24,723,447 (GRCm39) |
E745G |
probably damaging |
Het |
Clec4a2 |
G |
T |
6: 123,104,955 (GRCm39) |
A82S |
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,704,909 (GRCm39) |
N749S |
unknown |
Het |
Col9a2 |
T |
A |
4: 120,911,483 (GRCm39) |
M608K |
probably benign |
Het |
Cope |
T |
C |
8: 70,761,228 (GRCm39) |
|
probably null |
Het |
Dennd2d |
T |
A |
3: 106,397,730 (GRCm39) |
|
probably null |
Het |
Dpys |
T |
C |
15: 39,656,748 (GRCm39) |
T440A |
possibly damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,737,551 (GRCm39) |
T152I |
probably damaging |
Het |
Gm16503 |
A |
T |
4: 147,625,508 (GRCm39) |
M1L |
unknown |
Het |
Gm9195 |
A |
G |
14: 72,717,500 (GRCm39) |
S278P |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
Klhl33 |
A |
G |
14: 51,133,903 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
A |
G |
15: 91,584,618 (GRCm39) |
D345G |
probably benign |
Het |
Man2b2 |
A |
G |
5: 36,975,951 (GRCm39) |
L368P |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,788,705 (GRCm39) |
S1371T |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,134,633 (GRCm39) |
D479N |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,735,324 (GRCm39) |
R195* |
probably null |
Het |
Pcdhga10 |
G |
T |
18: 37,880,532 (GRCm39) |
A98S |
probably benign |
Het |
Pde8a |
A |
T |
7: 80,950,427 (GRCm39) |
Q221H |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,786,399 (GRCm39) |
H2335R |
|
Het |
Pkd1l1 |
T |
A |
11: 8,911,305 (GRCm39) |
D324V |
|
Het |
Pou2f2 |
G |
A |
7: 24,794,277 (GRCm39) |
T363I |
possibly damaging |
Het |
Prlr |
A |
G |
15: 10,328,988 (GRCm39) |
I488V |
probably benign |
Het |
Psmd2 |
T |
C |
16: 20,475,441 (GRCm39) |
|
probably null |
Het |
Rbm7 |
T |
C |
9: 48,400,969 (GRCm39) |
D253G |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,972,116 (GRCm39) |
|
probably null |
Het |
S1pr3 |
G |
T |
13: 51,573,553 (GRCm39) |
V245L |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,446,219 (GRCm39) |
D2755G |
probably benign |
Het |
Scgn |
T |
A |
13: 24,173,829 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
A |
G |
10: 58,966,802 (GRCm39) |
K715E |
probably damaging |
Het |
Sox18 |
T |
C |
2: 181,312,231 (GRCm39) |
E300G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,713,190 (GRCm39) |
N394I |
probably damaging |
Het |
Strn4 |
T |
C |
7: 16,573,827 (GRCm39) |
F759L |
probably damaging |
Het |
Tas2r144 |
A |
T |
6: 42,193,066 (GRCm39) |
I269F |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,678,737 (GRCm39) |
D606G |
possibly damaging |
Het |
Trh |
A |
G |
6: 92,220,823 (GRCm39) |
I13T |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,217,701 (GRCm39) |
I1169T |
possibly damaging |
Het |
Vwa3b |
G |
A |
1: 37,153,615 (GRCm39) |
D486N |
probably damaging |
Het |
Wars2 |
T |
C |
3: 99,094,846 (GRCm39) |
L47P |
probably benign |
Het |
Zbtb14 |
A |
G |
17: 69,695,576 (GRCm39) |
S425G |
probably damaging |
Het |
Zdhhc16 |
T |
C |
19: 41,926,549 (GRCm39) |
S111P |
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 |
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 |
|
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'- AGATCACATACTAGCAAGCAGG -3'
(R):5'- TGTTCACTTGAGAAATCAGGGG -3'
Sequencing Primer
(F):5'- TTCTAAAGTCCTCCGTGG -3'
(R):5'- TCGGTTTTCTCCTAACACAAATG -3'
|
Posted On |
2022-04-18 |