Incidental Mutation 'R8045:Mllt3'
| ID |
618701 |
| 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 |
067482-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
87688162-87951601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87759350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 233
(S233P)
|
| 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: S233P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: S233P
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,516,722 (GRCm39) |
I906V |
probably benign |
Het |
| Arhgap29 |
C |
A |
3: 121,801,211 (GRCm39) |
|
silent |
Het |
| Casz1 |
A |
G |
4: 149,017,236 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,080,407 (GRCm39) |
L406P |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,892,083 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
C |
T |
12: 72,202,676 (GRCm39) |
|
probably benign |
Het |
| Ccdc192 |
A |
T |
18: 57,863,991 (GRCm39) |
D265V |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,239,585 (GRCm39) |
I612T |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,661,243 (GRCm39) |
K535N |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,267,628 (GRCm39) |
Y137H |
probably damaging |
Het |
| Clint1 |
T |
A |
11: 45,781,566 (GRCm39) |
I212N |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,774,851 (GRCm39) |
T29M |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
T |
C |
1: 182,870,794 (GRCm39) |
Y542C |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 110,088,394 (GRCm39) |
T36A |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,834,648 (GRCm39) |
C3209R |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,902,728 (GRCm39) |
D117V |
possibly damaging |
Het |
| Lta4h |
A |
G |
10: 93,304,968 (GRCm39) |
Y257C |
probably damaging |
Het |
| Mamstr |
T |
A |
7: 45,293,827 (GRCm39) |
L301Q |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,455,101 (GRCm39) |
D42V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,418,736 (GRCm39) |
T855A |
|
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or56a41 |
A |
T |
7: 104,740,190 (GRCm39) |
S219T |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,402 (GRCm39) |
N190K |
probably benign |
Het |
| Pde11a |
G |
A |
2: 75,853,072 (GRCm39) |
L849F |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,350 (GRCm39) |
K505R |
unknown |
Het |
| Rbbp4 |
A |
G |
4: 129,211,693 (GRCm39) |
S355P |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Sema6c |
C |
T |
3: 95,080,535 (GRCm39) |
S943L |
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,294,449 (GRCm39) |
F441L |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,386 (GRCm39) |
W309R |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,988 (GRCm39) |
V432A |
probably benign |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,829 (GRCm39) |
S204R |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,759,753 (GRCm39) |
L213H |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,226,617 (GRCm39) |
*880R |
probably null |
Het |
| Zfp652 |
T |
C |
11: 95,640,483 (GRCm39) |
V136A |
possibly 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 |
|
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 |
|
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'- TGGCTGAGAGTTCTTCAGAATC -3'
(R):5'- GGACCCTAACAGGAGCATTC -3'
Sequencing Primer
(F):5'- TTCAGAATCTGAAGCAGGGGGC -3'
(R):5'- GGAGCATTCATACCAGCAGTAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation