Incidental Mutation 'R6644:Garin2'
| ID |
526030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin2
|
| Ensembl Gene |
ENSMUSG00000056987 |
| Gene Name |
golgi associated RAB2 interactor 2 |
| Synonyms |
Fam71d, 4921509E07Rik, 4930516C23Rik |
| MMRRC Submission |
044765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
78738309-78781290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78762060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 241
(D241E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077119
(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: D241E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077119
Gene: ENSMUSG00000056987
AA Change: D241E
| 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: D241E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220396
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
| Abhd14a |
T |
C |
9: 106,321,472 (GRCm39) |
Y10C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
| Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,373,428 (GRCm39) |
N588S |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
| Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
| Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
| Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
| Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
| Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
| Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
| Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
| Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
| Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
| Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
| Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
| Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
| Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
| Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
| Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
| Stx5a |
A |
T |
19: 8,732,612 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,910,244 (GRCm39) |
Y349H |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,671 (GRCm39) |
Y834C |
possibly damaging |
Het |
| Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
| Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
| Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
possibly damaging |
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 |
|
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'- GAGGTCTCGAGCCTTTCAGAAC -3'
(R):5'- GGCTACAGCTCCCATGTTTG -3'
Sequencing Primer
(F):5'- TCGAGCCTTTCAGAACTCACAAAC -3'
(R):5'- CGTTTTCAAATACTATTTTGACCCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation