Incidental Mutation 'R4125:Myrip'
ID |
315360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myrip
|
Ensembl Gene |
ENSMUSG00000041794 |
Gene Name |
myosin VIIA and Rab interacting protein |
Synonyms |
A230081N12Rik, Slac2-c |
MMRRC Submission |
041633-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4125 (G1)
|
Quality Score |
225 |
Status
|
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: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
T |
A |
3: 98,068,679 (GRCm39) |
C43S |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,449,412 (GRCm39) |
Y274F |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
Atm |
A |
C |
9: 53,361,921 (GRCm39) |
L2732R |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Bmpr1a |
T |
C |
14: 34,156,690 (GRCm39) |
D112G |
probably benign |
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 |
Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,088,613 (GRCm39) |
I121V |
probably null |
Het |
Ctsr |
A |
T |
13: 61,309,659 (GRCm39) |
D183E |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,797,630 (GRCm39) |
E347G |
possibly damaging |
Het |
Fhip1a |
A |
G |
3: 85,572,690 (GRCm39) |
S988P |
possibly damaging |
Het |
Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
Gramd2b |
T |
C |
18: 56,618,296 (GRCm39) |
S199P |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,188 (GRCm39) |
I90F |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,921,141 (GRCm39) |
H1313Q |
possibly damaging |
Het |
Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
Kansl2 |
G |
T |
15: 98,429,636 (GRCm39) |
P132Q |
possibly damaging |
Het |
Lman1 |
T |
C |
18: 66,120,932 (GRCm39) |
H430R |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,699,686 (GRCm39) |
I2511T |
probably benign |
Het |
Lvrn |
C |
A |
18: 47,010,036 (GRCm39) |
P395T |
possibly damaging |
Het |
Nectin4 |
A |
G |
1: 171,213,301 (GRCm39) |
S408G |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Or52ae9 |
T |
C |
7: 103,390,207 (GRCm39) |
K80R |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,873 (GRCm39) |
I417T |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,357,172 (GRCm39) |
T664A |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,056,962 (GRCm39) |
L4347Q |
probably damaging |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,942,690 (GRCm39) |
F1177L |
probably benign |
Het |
Pramel24 |
C |
T |
4: 143,452,850 (GRCm39) |
R94* |
probably null |
Het |
Ptprb |
A |
T |
10: 116,189,754 (GRCm39) |
R1804S |
probably benign |
Het |
Rhof |
C |
T |
5: 123,257,588 (GRCm39) |
V181M |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc22a12 |
T |
C |
19: 6,588,818 (GRCm39) |
E281G |
probably damaging |
Het |
Slco6b1 |
T |
A |
1: 96,915,622 (GRCm39) |
|
noncoding transcript |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Tcof1 |
C |
A |
18: 60,952,673 (GRCm39) |
A898S |
unknown |
Het |
Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
Thoc6 |
A |
T |
17: 23,888,319 (GRCm39) |
|
probably benign |
Het |
Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,560,091 (GRCm39) |
L684P |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Umps |
G |
A |
16: 33,777,288 (GRCm39) |
Q431* |
probably null |
Het |
Unc13c |
A |
G |
9: 73,481,289 (GRCm39) |
|
probably null |
Het |
Vmn1r210 |
A |
T |
13: 23,011,779 (GRCm39) |
M169K |
probably benign |
Het |
Zfp946 |
C |
T |
17: 22,673,548 (GRCm39) |
Q101* |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCATTGTAGCGGTGGATAGAC -3'
(R):5'- CTGCAGATCCTAGATATTTGGCAC -3'
Sequencing Primer
(F):5'- GTGTTGAAGTGCACACCTGTAATCC -3'
(R):5'- AGATATTTGGCACCTTCCAGG -3'
|
Posted On |
2015-05-14 |