Incidental Mutation 'IGL01919:Mylip'
| ID |
180049 |
| 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 # |
IGL01919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
45543218-45565498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45562178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 327
(E327K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038275]
[ENSMUST00000222178]
|
| AlphaFold |
Q8BM54 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038275
AA Change: E392K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: E392K
| 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 |
probably damaging
Transcript: ENSMUST00000222178
AA Change: E327K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,608,580 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,604,986 (GRCm39) |
F2212S |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,475,098 (GRCm39) |
I155V |
possibly damaging |
Het |
| Aoc1 |
G |
A |
6: 48,885,223 (GRCm39) |
V653M |
probably damaging |
Het |
| Arl8b |
T |
C |
6: 108,798,518 (GRCm39) |
|
probably benign |
Het |
| Bax |
A |
C |
7: 45,115,552 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,852,382 (GRCm39) |
E195K |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,168 (GRCm39) |
I2330T |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,501,940 (GRCm39) |
S297P |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,504,155 (GRCm39) |
K311E |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,691,906 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,886 (GRCm39) |
T536A |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,245,806 (GRCm39) |
T2173I |
possibly damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,055,556 (GRCm39) |
V783A |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,811 (GRCm39) |
V509A |
unknown |
Het |
| Lrwd1 |
A |
T |
5: 136,164,729 (GRCm39) |
L26* |
probably null |
Het |
| Mal2 |
T |
A |
15: 54,451,728 (GRCm39) |
W50R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,871 (GRCm39) |
E819V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,170 (GRCm39) |
F635L |
probably benign |
Het |
| Nfix |
T |
C |
8: 85,453,103 (GRCm39) |
D308G |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,824 (GRCm39) |
Q101* |
probably null |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,454,254 (GRCm39) |
E26G |
probably damaging |
Het |
| Rgs16 |
T |
A |
1: 153,617,804 (GRCm39) |
S105T |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,354,291 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Slc35e2 |
A |
G |
4: 155,697,187 (GRCm39) |
M234V |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,334 (GRCm39) |
V346A |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,847,654 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
A |
C |
8: 43,643,349 (GRCm39) |
T177P |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,245 (GRCm39) |
T959A |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02341:Mylip
|
APN |
13 |
45,544,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02657:Mylip
|
APN |
13 |
45,544,722 (GRCm39) |
missense |
probably benign |
|
|
IGL03239:Mylip
|
APN |
13 |
45,560,101 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2014-05-07 |
Incidental Mutation