Incidental Mutation 'IGL03258:Myrip'
| ID |
414729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myrip
|
| Ensembl Gene |
ENSMUSG00000041794 |
| Gene Name |
myosin VIIA and Rab interacting protein |
| Synonyms |
A230081N12Rik, Slac2-c |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
120301513-120474841 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120441352 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 556
(N556S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
|
| AlphaFold |
Q8K3I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048121
AA Change: N556S
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: N556S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
125 |
3.8e-46 |
PFAM |
|
Pfam:Rab_eff_C
|
152 |
856 |
N/A |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 122,137,561 (GRCm38) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,501,384 (GRCm38) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,436,409 (GRCm38) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,109,229 (GRCm38) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,655,093 (GRCm38) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 19,092,206 (GRCm38) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 49,920,893 (GRCm38) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 167,078,754 (GRCm38) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 94,133,353 (GRCm38) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,825,274 (GRCm38) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,380,119 (GRCm38) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,905,532 (GRCm38) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,887,683 (GRCm38) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,605,222 (GRCm38) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 29,839,913 (GRCm38) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,521,708 (GRCm38) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,612,003 (GRCm38) |
H961L |
possibly damaging |
Het |
| Osgep |
T |
C |
14: 50,917,889 (GRCm38) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,104,371 (GRCm38) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,704,565 (GRCm38) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,730,396 (GRCm38) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,560,515 (GRCm38) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 125,080,705 (GRCm38) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,329,042 (GRCm38) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,150,552 (GRCm38) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm38) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,589,839 (GRCm38) |
L772P |
probably damaging |
Het |
|
| Other mutations in Myrip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01924:Myrip
|
APN |
9 |
120,388,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02108:Myrip
|
APN |
9 |
120,467,565 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02406:Myrip
|
APN |
9 |
120,467,532 (GRCm38) |
missense |
probably benign |
|
|
IGL02876:Myrip
|
APN |
9 |
120,432,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03109:Myrip
|
APN |
9 |
120,453,724 (GRCm38) |
splice site |
probably null |
|
|
PIT4581001:Myrip
|
UTSW |
9 |
120,467,517 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0485:Myrip
|
UTSW |
9 |
120,441,377 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0633:Myrip
|
UTSW |
9 |
120,388,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1489:Myrip
|
UTSW |
9 |
120,432,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1539:Myrip
|
UTSW |
9 |
120,424,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1708:Myrip
|
UTSW |
9 |
120,464,774 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1817:Myrip
|
UTSW |
9 |
120,388,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1818:Myrip
|
UTSW |
9 |
120,388,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1878:Myrip
|
UTSW |
9 |
120,424,655 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2484:Myrip
|
UTSW |
9 |
120,424,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3237:Myrip
|
UTSW |
9 |
120,441,407 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3890:Myrip
|
UTSW |
9 |
120,422,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3912:Myrip
|
UTSW |
9 |
120,432,616 (GRCm38) |
missense |
probably benign |
|
|
R3919:Myrip
|
UTSW |
9 |
120,432,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4125:Myrip
|
UTSW |
9 |
120,464,698 (GRCm38) |
nonsense |
probably null |
|
|
R4126:Myrip
|
UTSW |
9 |
120,464,698 (GRCm38) |
nonsense |
probably null |
|
|
R4128:Myrip
|
UTSW |
9 |
120,464,698 (GRCm38) |
nonsense |
probably null |
|
|
R4435:Myrip
|
UTSW |
9 |
120,335,614 (GRCm38) |
start gained |
probably benign |
|
|
R4599:Myrip
|
UTSW |
9 |
120,464,784 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5014:Myrip
|
UTSW |
9 |
120,422,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Myrip
|
UTSW |
9 |
120,461,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5814:Myrip
|
UTSW |
9 |
120,424,668 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5849:Myrip
|
UTSW |
9 |
120,453,693 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5986:Myrip
|
UTSW |
9 |
120,461,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6706:Myrip
|
UTSW |
9 |
120,388,293 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7019:Myrip
|
UTSW |
9 |
120,422,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7291:Myrip
|
UTSW |
9 |
120,417,141 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8204:Myrip
|
UTSW |
9 |
120,432,979 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8557:Myrip
|
UTSW |
9 |
120,417,186 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8853:Myrip
|
UTSW |
9 |
120,461,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8911:Myrip
|
UTSW |
9 |
120,441,418 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9106:Myrip
|
UTSW |
9 |
120,432,478 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9225:Myrip
|
UTSW |
9 |
120,464,784 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Myrip
|
UTSW |
9 |
120,441,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Myrip
|
UTSW |
9 |
120,432,778 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation