Incidental Mutation 'R1489:Myrip'
ID |
163608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myrip
|
Ensembl Gene |
ENSMUSG00000041794 |
Gene Name |
myosin VIIA and Rab interacting protein |
Synonyms |
A230081N12Rik, Slac2-c |
MMRRC Submission |
039541-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1489 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
120132996-120305167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120261595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 403
(F403L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048121]
|
AlphaFold |
Q8K3I4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048121
AA Change: F403L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046891 Gene: ENSMUSG00000041794 AA Change: F403L
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: F398L
|
Meta Mutation Damage Score |
0.0734 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
Ap3b2 |
C |
A |
7: 81,113,438 (GRCm39) |
E924* |
probably null |
Het |
Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
Atl2 |
G |
A |
17: 80,160,135 (GRCm39) |
A17V |
probably benign |
Het |
Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
Fbxw2 |
GCCCCC |
GCCCCCCCC |
2: 34,702,829 (GRCm39) |
|
probably benign |
Het |
Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
Foxc1 |
C |
T |
13: 31,992,595 (GRCm39) |
R469* |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,575,593 (GRCm39) |
L333P |
probably benign |
Het |
Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAACTGGATGACCTTGAAGGAC -3'
(R):5'- GCTGCCTGAGGGTTGAAATTGACG -3'
Sequencing Primer
(F):5'- ACGGTAGTAGACAGCCCC -3'
(R):5'- AGCTTCCCGAGATGAGCTG -3'
|
Posted On |
2014-03-28 |