Incidental Mutation 'IGL02571:Garin3'
| ID |
299002 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garin3
|
| Ensembl Gene |
ENSMUSG00000020401 |
| Gene Name |
golgi associated RAB2 interactor 3 |
| Synonyms |
Fam71b, OTTMUSG00000005491 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46295555-46298812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46296072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 148
(R148L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063166]
|
| AlphaFold |
Q5STT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063166
AA Change: R148L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: R148L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3699
|
120 |
192 |
1.2e-32 |
PFAM |
|
low complexity region
|
241 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
575 |
N/A |
INTRINSIC |
|
SCOP:d1g7sa3
|
586 |
650 |
1e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139280
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
T |
C |
14: 60,249,907 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,845 (GRCm39) |
E885K |
possibly damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,878 (GRCm39) |
E352G |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,055,766 (GRCm39) |
W373R |
possibly damaging |
Het |
| Gem |
C |
A |
4: 11,713,628 (GRCm39) |
Q255K |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,341,887 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,803,134 (GRCm39) |
N2161I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,415,235 (GRCm39) |
F1325L |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,132,016 (GRCm39) |
K267R |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,178 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,219,592 (GRCm39) |
|
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,258 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,949,841 (GRCm39) |
D74G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,536,519 (GRCm39) |
G399D |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,319,453 (GRCm39) |
I536T |
probably damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,250 (GRCm39) |
S192R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,798,023 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rubcnl |
A |
T |
14: 75,269,576 (GRCm39) |
Q78L |
possibly damaging |
Het |
| Sis |
C |
A |
3: 72,863,637 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,628,370 (GRCm39) |
M320V |
probably benign |
Het |
| Vmn1r178 |
C |
T |
7: 23,593,660 (GRCm39) |
T236I |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,481,053 (GRCm39) |
D273G |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,394,583 (GRCm39) |
N1033T |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,584 (GRCm39) |
T254A |
probably damaging |
Het |
|
| Other mutations in Garin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Garin3
|
APN |
11 |
46,296,224 (GRCm39) |
nonsense |
probably null |
|
|
IGL02375:Garin3
|
APN |
11 |
46,297,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0013:Garin3
|
UTSW |
11 |
46,297,631 (GRCm39) |
missense |
unknown |
|
|
R1902:Garin3
|
UTSW |
11 |
46,297,838 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1985:Garin3
|
UTSW |
11 |
46,298,693 (GRCm39) |
makesense |
probably null |
|
|
R2079:Garin3
|
UTSW |
11 |
46,295,934 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2151:Garin3
|
UTSW |
11 |
46,296,158 (GRCm39) |
nonsense |
probably null |
|
|
R2857:Garin3
|
UTSW |
11 |
46,296,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2859:Garin3
|
UTSW |
11 |
46,296,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Garin3
|
UTSW |
11 |
46,295,780 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4232:Garin3
|
UTSW |
11 |
46,298,232 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4342:Garin3
|
UTSW |
11 |
46,298,043 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4679:Garin3
|
UTSW |
11 |
46,295,640 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5119:Garin3
|
UTSW |
11 |
46,297,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Garin3
|
UTSW |
11 |
46,295,990 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5540:Garin3
|
UTSW |
11 |
46,295,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6618:Garin3
|
UTSW |
11 |
46,298,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Garin3
|
UTSW |
11 |
46,298,418 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7036:Garin3
|
UTSW |
11 |
46,298,235 (GRCm39) |
missense |
|
|
|
R7489:Garin3
|
UTSW |
11 |
46,298,268 (GRCm39) |
missense |
|
|
|
R7809:Garin3
|
UTSW |
11 |
46,298,631 (GRCm39) |
missense |
|
|
|
R7822:Garin3
|
UTSW |
11 |
46,295,730 (GRCm39) |
missense |
|
|
|
R7996:Garin3
|
UTSW |
11 |
46,295,889 (GRCm39) |
missense |
|
|
|
R8984:Garin3
|
UTSW |
11 |
46,295,695 (GRCm39) |
nonsense |
probably null |
|
|
R9324:Garin3
|
UTSW |
11 |
46,295,810 (GRCm39) |
missense |
|
|
|
R9532:Garin3
|
UTSW |
11 |
46,297,673 (GRCm39) |
missense |
|
|
|
Z1088:Garin3
|
UTSW |
11 |
46,298,550 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation