Incidental Mutation 'R1318:Mylip'
| ID |
157613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylip
|
| Ensembl Gene |
ENSMUSG00000038175 |
| Gene Name |
myosin regulatory light chain interacting protein |
| Synonyms |
Mir, Idol, 9430057C20Rik |
| MMRRC Submission |
039384-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1318 (G1)
|
| Quality Score |
125 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
45543218-45565498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45559401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 101
(I101T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038275]
[ENSMUST00000222178]
|
| AlphaFold |
Q8BM54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038275
AA Change: I166T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: I166T
| 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 benign
Transcript: ENSMUST00000222178
AA Change: I101T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
| Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
| Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
| Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
| Mettl2 |
C |
A |
11: 105,028,597 (GRCm39) |
Y316* |
probably null |
Het |
| Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
| Oasl2 |
A |
G |
5: 115,039,442 (GRCm39) |
N210S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
| Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
| Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
| Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,777 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCGTTGAGCAATCTCACTGGC -3'
(R):5'- ACTACTGATACTGAGCAGGAAGGGC -3'
Sequencing Primer
(F):5'- ATCCCGAGCCATGTCTCAG -3'
(R):5'- atgtatgaatgtGATTGATGACTCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation