Incidental Mutation 'R4437:Garin2'
ID |
329586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garin2
|
Ensembl Gene |
ENSMUSG00000056987 |
Gene Name |
golgi associated RAB2 interactor 2 |
Synonyms |
Fam71d, 4921509E07Rik, 4930516C23Rik |
MMRRC Submission |
041150-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R4437 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
78738309-78781290 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78761824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 163
(F163I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077968]
[ENSMUST00000218697]
[ENSMUST00000219507]
[ENSMUST00000219551]
[ENSMUST00000220101]
[ENSMUST00000220396]
|
AlphaFold |
D3YV92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077968
AA Change: F163I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077119 Gene: ENSMUSG00000056987 AA Change: F163I
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
111 |
184 |
1.6e-25 |
PFAM |
low complexity region
|
237 |
250 |
N/A |
INTRINSIC |
low complexity region
|
265 |
284 |
N/A |
INTRINSIC |
low complexity region
|
391 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219507
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219551
AA Change: F163I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219572
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220101
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220396
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Arhgef16 |
A |
G |
4: 154,364,153 (GRCm39) |
|
probably null |
Het |
Bcar1 |
G |
A |
8: 112,442,021 (GRCm39) |
T273M |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
Camsap1 |
G |
A |
2: 25,828,658 (GRCm39) |
T1022I |
possibly damaging |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,514 (GRCm39) |
Q161R |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
probably benign |
Het |
|
Other mutations in Garin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02123:Garin2
|
APN |
12 |
78,780,981 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02738:Garin2
|
APN |
12 |
78,780,989 (GRCm39) |
splice site |
probably benign |
|
R0760:Garin2
|
UTSW |
12 |
78,761,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Garin2
|
UTSW |
12 |
78,762,280 (GRCm39) |
unclassified |
probably benign |
|
R1833:Garin2
|
UTSW |
12 |
78,762,280 (GRCm39) |
unclassified |
probably benign |
|
R4335:Garin2
|
UTSW |
12 |
78,759,006 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4850:Garin2
|
UTSW |
12 |
78,761,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5234:Garin2
|
UTSW |
12 |
78,762,045 (GRCm39) |
nonsense |
probably null |
|
R5445:Garin2
|
UTSW |
12 |
78,761,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5587:Garin2
|
UTSW |
12 |
78,761,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R5965:Garin2
|
UTSW |
12 |
78,757,080 (GRCm39) |
missense |
unknown |
|
R5993:Garin2
|
UTSW |
12 |
78,762,210 (GRCm39) |
missense |
probably damaging |
0.98 |
R6644:Garin2
|
UTSW |
12 |
78,762,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6660:Garin2
|
UTSW |
12 |
78,762,131 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7052:Garin2
|
UTSW |
12 |
78,766,176 (GRCm39) |
missense |
probably benign |
0.00 |
R7098:Garin2
|
UTSW |
12 |
78,766,408 (GRCm39) |
critical splice donor site |
probably null |
|
R7189:Garin2
|
UTSW |
12 |
78,758,982 (GRCm39) |
missense |
probably benign |
0.22 |
R7305:Garin2
|
UTSW |
12 |
78,761,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7578:Garin2
|
UTSW |
12 |
78,762,275 (GRCm39) |
critical splice donor site |
probably null |
|
R7604:Garin2
|
UTSW |
12 |
78,761,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7720:Garin2
|
UTSW |
12 |
78,758,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R7786:Garin2
|
UTSW |
12 |
78,766,403 (GRCm39) |
missense |
probably benign |
0.18 |
R8008:Garin2
|
UTSW |
12 |
78,761,817 (GRCm39) |
missense |
probably benign |
0.33 |
R8680:Garin2
|
UTSW |
12 |
78,762,057 (GRCm39) |
unclassified |
probably benign |
|
R8683:Garin2
|
UTSW |
12 |
78,762,057 (GRCm39) |
unclassified |
probably benign |
|
R8792:Garin2
|
UTSW |
12 |
78,761,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9026:Garin2
|
UTSW |
12 |
78,757,097 (GRCm39) |
missense |
probably benign |
0.00 |
R9112:Garin2
|
UTSW |
12 |
78,757,202 (GRCm39) |
critical splice donor site |
probably null |
|
R9290:Garin2
|
UTSW |
12 |
78,759,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9620:Garin2
|
UTSW |
12 |
78,762,077 (GRCm39) |
missense |
probably damaging |
1.00 |
U24488:Garin2
|
UTSW |
12 |
78,761,811 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1190:Garin2
|
UTSW |
12 |
78,758,994 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTGCAACTAGGTCTTTGGC -3'
(R):5'- CGGTGACATCAGTGACATCTG -3'
Sequencing Primer
(F):5'- CAACTAGGTCTTTGGCTAATGTTACC -3'
(R):5'- CAGTGACATCTGTGACATCAGTGAC -3'
|
Posted On |
2015-07-21 |