Incidental Mutation 'R7482:Mlf1'
| ID |
579845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlf1
|
| Ensembl Gene |
ENSMUSG00000048416 |
| Gene Name |
myeloid leukemia factor 1 |
| Synonyms |
HLS7 |
| MMRRC Submission |
045556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
R7482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
67281430-67307333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67300227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 81
(H81Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061322]
[ENSMUST00000077916]
[ENSMUST00000126628]
|
| AlphaFold |
Q9QWV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061322
AA Change: H81Q
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: H81Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mlf1IP
|
26 |
217 |
7.4e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077916
AA Change: H66Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: H66Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mlf1IP
|
26 |
203 |
1.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126628
|
| SMART Domains |
Protein: ENSMUSP00000141208
Gene: ENSMUSG00000048416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mlf1IP
|
26 |
69 |
5.5e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1144 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
A |
13: 111,392,673 (GRCm39) |
R336H |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ap2a2 |
C |
T |
7: 141,182,210 (GRCm39) |
P180S |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,693,199 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
T |
10: 127,021,540 (GRCm39) |
M226K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,088,254 (GRCm39) |
D45G |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,990,728 (GRCm39) |
V1675F |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,938,963 (GRCm39) |
R820L |
possibly damaging |
Het |
| Cldn7 |
A |
G |
11: 69,856,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,435,926 (GRCm39) |
V615A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,460,194 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,156,032 (GRCm39) |
S798T |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,044,202 (GRCm39) |
M311K |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,501,941 (GRCm39) |
C4225S |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 54,079,629 (GRCm39) |
H8R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,033 (GRCm39) |
E490G |
probably benign |
Het |
| Jakmip3 |
T |
A |
7: 138,627,228 (GRCm39) |
C411S |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,933,405 (GRCm39) |
T339A |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,889,579 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
A |
16: 32,587,324 (GRCm39) |
Y652N |
|
Het |
| Myo9b |
A |
G |
8: 71,795,442 (GRCm39) |
S804G |
probably benign |
Het |
| Or8b1 |
T |
G |
9: 38,399,747 (GRCm39) |
C141G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,830,739 (GRCm39) |
I79T |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,317,760 (GRCm39) |
E1043G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,518 (GRCm39) |
V941A |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,943 (GRCm39) |
V71A |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,749,328 (GRCm39) |
A121T |
probably benign |
Het |
| Stx17 |
A |
G |
4: 48,181,722 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tas2r105 |
A |
T |
6: 131,663,972 (GRCm39) |
M152K |
probably benign |
Het |
| Tlr11 |
G |
T |
14: 50,600,456 (GRCm39) |
C814F |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,927 (GRCm39) |
V802A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,637 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,468 (GRCm39) |
K671E |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,220 (GRCm39) |
F246L |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,232,544 (GRCm39) |
L355V |
probably benign |
Het |
|
| Other mutations in Mlf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Mlf1
|
APN |
3 |
67,307,046 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02673:Mlf1
|
APN |
3 |
67,301,280 (GRCm39) |
missense |
probably benign |
|
|
IGL03308:Mlf1
|
APN |
3 |
67,305,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Mlf1
|
UTSW |
3 |
67,302,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Mlf1
|
UTSW |
3 |
67,307,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2566:Mlf1
|
UTSW |
3 |
67,291,919 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4238:Mlf1
|
UTSW |
3 |
67,291,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5367:Mlf1
|
UTSW |
3 |
67,301,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Mlf1
|
UTSW |
3 |
67,291,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Mlf1
|
UTSW |
3 |
67,307,060 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6457:Mlf1
|
UTSW |
3 |
67,300,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7640:Mlf1
|
UTSW |
3 |
67,300,266 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8034:Mlf1
|
UTSW |
3 |
67,291,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Mlf1
|
UTSW |
3 |
67,305,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8783:Mlf1
|
UTSW |
3 |
67,291,997 (GRCm39) |
missense |
probably benign |
|
|
R9121:Mlf1
|
UTSW |
3 |
67,307,054 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTATGGTTTAAGCAAGCTGAG -3'
(R):5'- CAACAGGCTCAGAAGAACATATTG -3'
Sequencing Primer
(F):5'- CTATGGTTTAAGCAAGCTGAGAAATG -3'
(R):5'- GGCTCAGAAGAACATATTGAGATTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation