Incidental Mutation 'IGL02876:Myrip'
| ID |
406233 |
| 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 # |
IGL02876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
120132996-120305167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120261740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 451
(D451V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
|
| AlphaFold |
Q8K3I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048121
AA Change: D451V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: D451V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
125 |
3.8e-46 |
PFAM |
|
Pfam:Rab_eff_C
|
152 |
856 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129168
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214784
AA Change: D446V
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
A |
G |
4: 144,282,343 (GRCm39) |
Y150H |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,883,576 (GRCm39) |
V564A |
probably damaging |
Het |
| Adamts15 |
A |
T |
9: 30,815,818 (GRCm39) |
N679K |
probably damaging |
Het |
| Angpt1 |
T |
G |
15: 42,290,373 (GRCm39) |
D497A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,308,164 (GRCm39) |
K849R |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,391 (GRCm39) |
V1137A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,610,746 (GRCm39) |
I297V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,604,071 (GRCm39) |
V454A |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,338,651 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,128 (GRCm39) |
K517* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,469,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
T |
A |
15: 82,273,697 (GRCm39) |
Q427L |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,100 (GRCm39) |
V706M |
probably damaging |
Het |
| Entpd8 |
A |
C |
2: 24,975,072 (GRCm39) |
S428R |
probably benign |
Het |
| Gm10283 |
T |
C |
8: 60,954,253 (GRCm39) |
|
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,307,995 (GRCm39) |
V363E |
probably damaging |
Het |
| Hoxb5 |
T |
A |
11: 96,194,594 (GRCm39) |
M52K |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,878,627 (GRCm39) |
V307A |
probably benign |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,424 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm5a |
T |
C |
6: 120,367,605 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,057,687 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
G |
A |
6: 134,433,077 (GRCm39) |
P1418L |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,590,432 (GRCm39) |
F156L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,217,378 (GRCm39) |
R85G |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,539 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Pdzph1 |
C |
A |
17: 59,281,064 (GRCm39) |
S406I |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,184,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,742 (GRCm39) |
R236S |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,722,679 (GRCm39) |
M2604V |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,377,673 (GRCm39) |
|
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,719 (GRCm39) |
H88L |
probably damaging |
Het |
| Spcs3 |
A |
T |
8: 54,979,486 (GRCm39) |
N98K |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,414 (GRCm39) |
S413P |
probably damaging |
Het |
| Stap2 |
T |
C |
17: 56,306,961 (GRCm39) |
R239G |
probably benign |
Het |
| Surf6 |
A |
G |
2: 26,782,638 (GRCm39) |
Y230H |
probably damaging |
Het |
| Tasp1 |
C |
T |
2: 139,676,283 (GRCm39) |
V382M |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,933,338 (GRCm39) |
A642E |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,558 (GRCm39) |
T704S |
probably damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,791,145 (GRCm39) |
D61V |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,738,364 (GRCm39) |
M223I |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,687,875 (GRCm39) |
S934T |
probably benign |
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 |
|
|
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 |
|
|
R4128: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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation