Incidental Mutation 'R4435:Myrip'
| ID |
329489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrip
|
| Ensembl Gene |
ENSMUSG00000041794 |
| Gene Name |
myosin VIIA and Rab interacting protein |
| Synonyms |
A230081N12Rik, Slac2-c |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
120132996-120305167 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 120164680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
[ENSMUST00000133173]
|
| AlphaFold |
Q8K3I4 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000133173
|
| SMART Domains |
Protein: ENSMUSP00000122046
Gene: ENSMUSG00000041794
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
125 |
2.1e-44 |
PFAM |
|
Pfam:Rab_eff_C
|
152 |
210 |
5.4e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-07-21 |
Incidental Mutation