Incidental Mutation 'IGL03239:Mylip'
| ID |
414211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mylip
|
| Ensembl Gene |
ENSMUSG00000038175 |
| Gene Name |
myosin regulatory light chain interacting protein |
| Synonyms |
Mir, Idol, 9430057C20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
45543218-45565498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45560101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038275]
[ENSMUST00000222178]
|
| AlphaFold |
Q8BM54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038275
AA Change: E244G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: E244G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
190 |
2.85e-36 |
SMART |
|
FERM_C
|
194 |
283 |
1.87e-16 |
SMART |
|
low complexity region
|
342 |
368 |
N/A |
INTRINSIC |
|
RING
|
387 |
421 |
2.92e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222178
AA Change: E179G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,835 (GRCm39) |
Y309C |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,214,932 (GRCm39) |
V44L |
probably damaging |
Het |
| Catsperg2 |
T |
G |
7: 29,397,141 (GRCm39) |
S1121R |
probably benign |
Het |
| Ccdc190 |
G |
T |
1: 169,761,549 (GRCm39) |
R217L |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,465,005 (GRCm39) |
P619S |
possibly damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,655,796 (GRCm39) |
W498R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,557,254 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,589 (GRCm39) |
D1471G |
unknown |
Het |
| Htr2b |
A |
G |
1: 86,027,414 (GRCm39) |
F364S |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,886 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,390,233 (GRCm39) |
T1731A |
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,916,243 (GRCm39) |
R392G |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,667 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb13 |
C |
A |
18: 37,575,888 (GRCm39) |
L89M |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,034 (GRCm39) |
Y378C |
probably damaging |
Het |
| Prdm5 |
T |
G |
6: 65,863,062 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,982,091 (GRCm39) |
D381G |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,130,138 (GRCm39) |
N434D |
probably benign |
Het |
| Usp17la |
C |
T |
7: 104,509,827 (GRCm39) |
T144I |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,970,799 (GRCm39) |
T336A |
possibly damaging |
Het |
|
| Other mutations in Mylip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Mylip
|
APN |
13 |
45,562,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01603:Mylip
|
APN |
13 |
45,543,479 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01919:Mylip
|
APN |
13 |
45,562,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Mylip
|
APN |
13 |
45,544,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02657:Mylip
|
APN |
13 |
45,544,722 (GRCm39) |
missense |
probably benign |
|
|
PIT4283001:Mylip
|
UTSW |
13 |
45,560,110 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0482:Mylip
|
UTSW |
13 |
45,558,059 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1217:Mylip
|
UTSW |
13 |
45,560,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1318:Mylip
|
UTSW |
13 |
45,559,401 (GRCm39) |
missense |
probably benign |
|
|
R1341:Mylip
|
UTSW |
13 |
45,559,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1531:Mylip
|
UTSW |
13 |
45,560,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1749:Mylip
|
UTSW |
13 |
45,557,946 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1942:Mylip
|
UTSW |
13 |
45,560,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Mylip
|
UTSW |
13 |
45,543,434 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R4922:Mylip
|
UTSW |
13 |
45,562,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Mylip
|
UTSW |
13 |
45,562,178 (GRCm39) |
nonsense |
probably null |
|
|
R6247:Mylip
|
UTSW |
13 |
45,561,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Mylip
|
UTSW |
13 |
45,557,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8085:Mylip
|
UTSW |
13 |
45,563,928 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8256:Mylip
|
UTSW |
13 |
45,561,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Mylip
|
UTSW |
13 |
45,544,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation