Incidental Mutation 'IGL03013:Garin5b'
| ID |
407856 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garin5b
|
| Ensembl Gene |
ENSMUSG00000092518 |
| Gene Name |
golgi associated RAB2 interactor family member 5B |
| Synonyms |
Fam71e2, 4930401F20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4761632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 360
(L360S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163574]
[ENSMUST00000174409]
|
| AlphaFold |
L7N480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163574
|
| SMART Domains |
Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174409
AA Change: L360S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: L360S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
93 |
168 |
5.8e-24 |
PFAM |
|
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,561,690 (GRCm39) |
D205G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,447,819 (GRCm39) |
F319L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,975,840 (GRCm39) |
I91T |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,429,255 (GRCm39) |
T192A |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,380,521 (GRCm39) |
W136R |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly damaging |
Het |
|
| Other mutations in Garin5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Garin5b
|
APN |
7 |
4,760,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01622:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01623:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01944:Garin5b
|
APN |
7 |
4,773,694 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03029:Garin5b
|
APN |
7 |
4,760,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0153:Garin5b
|
UTSW |
7 |
4,773,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0523:Garin5b
|
UTSW |
7 |
4,762,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0981:Garin5b
|
UTSW |
7 |
4,760,588 (GRCm39) |
splice site |
probably null |
|
|
R1428:Garin5b
|
UTSW |
7 |
4,760,687 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1736:Garin5b
|
UTSW |
7 |
4,761,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:Garin5b
|
UTSW |
7 |
4,761,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Garin5b
|
UTSW |
7 |
4,762,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Garin5b
|
UTSW |
7 |
4,774,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2270:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2272:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4288:Garin5b
|
UTSW |
7 |
4,773,722 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4653:Garin5b
|
UTSW |
7 |
4,761,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4812:Garin5b
|
UTSW |
7 |
4,762,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5037:Garin5b
|
UTSW |
7 |
4,761,575 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5044:Garin5b
|
UTSW |
7 |
4,761,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5491:Garin5b
|
UTSW |
7 |
4,760,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5559:Garin5b
|
UTSW |
7 |
4,761,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Garin5b
|
UTSW |
7 |
4,773,385 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6025:Garin5b
|
UTSW |
7 |
4,761,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6164:Garin5b
|
UTSW |
7 |
4,773,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Garin5b
|
UTSW |
7 |
4,762,358 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6470:Garin5b
|
UTSW |
7 |
4,760,850 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6546:Garin5b
|
UTSW |
7 |
4,761,464 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6603:Garin5b
|
UTSW |
7 |
4,761,431 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7037:Garin5b
|
UTSW |
7 |
4,761,584 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7381:Garin5b
|
UTSW |
7 |
4,760,681 (GRCm39) |
missense |
|
|
|
R8743:Garin5b
|
UTSW |
7 |
4,760,814 (GRCm39) |
missense |
|
|
|
R9066:Garin5b
|
UTSW |
7 |
4,773,518 (GRCm39) |
intron |
probably benign |
|
|
R9072:Garin5b
|
UTSW |
7 |
4,762,253 (GRCm39) |
missense |
|
|
|
R9138:Garin5b
|
UTSW |
7 |
4,773,406 (GRCm39) |
missense |
|
|
|
R9352:Garin5b
|
UTSW |
7 |
4,761,605 (GRCm39) |
missense |
|
|
|
R9373:Garin5b
|
UTSW |
7 |
4,760,712 (GRCm39) |
missense |
|
|
|
R9462:Garin5b
|
UTSW |
7 |
4,761,330 (GRCm39) |
missense |
|
|
|
Z1177:Garin5b
|
UTSW |
7 |
4,760,727 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation