Incidental Mutation 'R4128:Myrip'
ID |
315481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myrip
|
Ensembl Gene |
ENSMUSG00000041794 |
Gene Name |
myosin VIIA and Rab interacting protein |
Synonyms |
A230081N12Rik, Slac2-c |
MMRRC Submission |
041635-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4128 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
120132996-120305167 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 120293764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 753
(S753*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
|
AlphaFold |
Q8K3I4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048121
AA Change: S753*
|
SMART Domains |
Protein: ENSMUSP00000046891 Gene: ENSMUSG00000041794 AA Change: S753*
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
8 |
125 |
3.8e-46 |
PFAM |
Pfam:Rab_eff_C
|
152 |
856 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,340,581 (GRCm39) |
*419W |
probably null |
Het |
Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Rab39 |
T |
A |
9: 53,597,804 (GRCm39) |
I154L |
probably benign |
Het |
Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Stxbp3 |
T |
C |
3: 108,702,147 (GRCm39) |
Q553R |
probably benign |
Het |
Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
Other mutations in Myrip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01924:Myrip
|
APN |
9 |
120,217,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Myrip
|
APN |
9 |
120,296,631 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02406:Myrip
|
APN |
9 |
120,296,598 (GRCm39) |
missense |
probably benign |
|
IGL02876:Myrip
|
APN |
9 |
120,261,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03109:Myrip
|
APN |
9 |
120,282,790 (GRCm39) |
splice site |
probably null |
|
IGL03258:Myrip
|
APN |
9 |
120,270,418 (GRCm39) |
missense |
probably benign |
0.45 |
PIT4581001:Myrip
|
UTSW |
9 |
120,296,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R0485:Myrip
|
UTSW |
9 |
120,270,443 (GRCm39) |
missense |
probably benign |
0.01 |
R0633:Myrip
|
UTSW |
9 |
120,217,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Myrip
|
UTSW |
9 |
120,261,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Myrip
|
UTSW |
9 |
120,253,689 (GRCm39) |
missense |
probably benign |
0.00 |
R1708:Myrip
|
UTSW |
9 |
120,293,840 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1817:Myrip
|
UTSW |
9 |
120,217,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Myrip
|
UTSW |
9 |
120,217,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1878:Myrip
|
UTSW |
9 |
120,253,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R2484:Myrip
|
UTSW |
9 |
120,253,685 (GRCm39) |
missense |
probably benign |
0.00 |
R3237:Myrip
|
UTSW |
9 |
120,270,473 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3890:Myrip
|
UTSW |
9 |
120,251,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R3912:Myrip
|
UTSW |
9 |
120,261,682 (GRCm39) |
missense |
probably benign |
|
R3919:Myrip
|
UTSW |
9 |
120,261,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R4125:Myrip
|
UTSW |
9 |
120,293,764 (GRCm39) |
nonsense |
probably null |
|
R4126:Myrip
|
UTSW |
9 |
120,293,764 (GRCm39) |
nonsense |
probably null |
|
R4435:Myrip
|
UTSW |
9 |
120,164,680 (GRCm39) |
start gained |
probably benign |
|
R4599:Myrip
|
UTSW |
9 |
120,293,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R5014:Myrip
|
UTSW |
9 |
120,251,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Myrip
|
UTSW |
9 |
120,290,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R5814:Myrip
|
UTSW |
9 |
120,253,734 (GRCm39) |
missense |
probably benign |
0.06 |
R5849:Myrip
|
UTSW |
9 |
120,282,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R5986:Myrip
|
UTSW |
9 |
120,290,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6706:Myrip
|
UTSW |
9 |
120,217,359 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7019:Myrip
|
UTSW |
9 |
120,251,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Myrip
|
UTSW |
9 |
120,246,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R8204:Myrip
|
UTSW |
9 |
120,262,045 (GRCm39) |
critical splice donor site |
probably null |
|
R8557:Myrip
|
UTSW |
9 |
120,246,252 (GRCm39) |
missense |
probably benign |
0.32 |
R8853:Myrip
|
UTSW |
9 |
120,290,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Myrip
|
UTSW |
9 |
120,270,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9106:Myrip
|
UTSW |
9 |
120,261,544 (GRCm39) |
missense |
probably benign |
0.37 |
R9225:Myrip
|
UTSW |
9 |
120,293,850 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Myrip
|
UTSW |
9 |
120,270,547 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Myrip
|
UTSW |
9 |
120,261,844 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTCACTGGTAGGATTTAAATG -3'
(R):5'- CAGTACAGCTCTGCAGATCC -3'
Sequencing Primer
(F):5'- GTGTTGAAGTGCACACCTGTAATCC -3'
(R):5'- GCAGATCCTAGATATTTGGCACC -3'
|
Posted On |
2015-05-14 |