Incidental Mutation 'R6660:Garin2'
| ID |
526814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin2
|
| Ensembl Gene |
ENSMUSG00000056987 |
| Gene Name |
golgi associated RAB2 interactor 2 |
| Synonyms |
Fam71d, 4921509E07Rik, 4930516C23Rik |
| MMRRC Submission |
044780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
78738309-78781290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78762131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 265
(V265A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077968]
[ENSMUST00000219507]
[ENSMUST00000219551]
[ENSMUST00000220101]
[ENSMUST00000220396]
|
| AlphaFold |
D3YV92 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077968
AA Change: V265A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077119
Gene: ENSMUSG00000056987
AA Change: V265A
| 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: ENSMUST00000219507
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219551
AA Change: V265A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
| Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
| Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
| Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
| Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
| Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
| Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
| Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
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 |
|
R4437:Garin2
|
UTSW |
12 |
78,761,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ATGGACATCACGGACATCAC -3'
(R):5'- TGTTAACAAAGACTTGGCTACAGC -3'
Sequencing Primer
(F):5'- ACTGCTTTCAGAGAACTGCG -3'
(R):5'- AGACTTGGCTACAGCTCCCATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation