Incidental Mutation 'IGL03109:Myrip'
| ID |
419134 |
| 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 # |
IGL03109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
120132996-120305167 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 120282790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
[ENSMUST00000048121]
[ENSMUST00000048121]
|
| AlphaFold |
Q8K3I4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048121
|
| SMART Domains |
Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
| 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 |
probably null
Transcript: ENSMUST00000048121
|
| SMART Domains |
Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
| 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 |
probably null
Transcript: ENSMUST00000048121
|
| SMART Domains |
Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,734,304 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,188 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
| Eef2k |
G |
A |
7: 120,490,949 (GRCm39) |
G523E |
probably damaging |
Het |
| Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
| Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,811,006 (GRCm39) |
L88P |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
| Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,411,010 (GRCm39) |
R267H |
probably benign |
Het |
| Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
| Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
| Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
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 |
|
|
IGL02876:Myrip
|
APN |
9 |
120,261,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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