Incidental Mutation 'IGL01944:Garin5b'
| ID |
181205 |
| 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 # |
IGL01944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4773694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 67
(N67S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094892]
[ENSMUST00000163481]
[ENSMUST00000163574]
[ENSMUST00000174409]
|
| AlphaFold |
L7N480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094892
|
| SMART Domains |
Protein: ENSMUSP00000092492
Gene: ENSMUSG00000004371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL11
|
1 |
199 |
1.3e-119 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108580
AA Change: N67S
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: N67S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
99 |
172 |
6.5e-23 |
PFAM |
|
low complexity region
|
282 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163481
|
| SMART Domains |
Protein: ENSMUSP00000131168
Gene: ENSMUSG00000004371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL11
|
1 |
140 |
2.1e-90 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163574
AA Change: N67S
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
AA Change: N67S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174409
AA Change: N67S
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: N67S
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,230 (GRCm39) |
V202D |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,030,743 (GRCm39) |
N218S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,208 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
G |
T |
1: 172,103,754 (GRCm39) |
T959K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,774,043 (GRCm39) |
E96G |
probably benign |
Het |
| B9d1 |
A |
T |
11: 61,403,205 (GRCm39) |
M52L |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,108 (GRCm39) |
I334F |
probably damaging |
Het |
| Drd3 |
T |
C |
16: 43,638,671 (GRCm39) |
F259L |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,889,805 (GRCm39) |
L891R |
probably damaging |
Het |
| Ecpas |
G |
T |
4: 58,861,544 (GRCm39) |
T345K |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,557,280 (GRCm39) |
V1760A |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,045,291 (GRCm39) |
W48R |
probably damaging |
Het |
| Ipo9 |
C |
A |
1: 135,333,624 (GRCm39) |
V353F |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,761,064 (GRCm39) |
F126I |
probably damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,948,167 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,971 (GRCm39) |
C328* |
probably null |
Het |
| Or9g19 |
A |
G |
2: 85,600,384 (GRCm39) |
I80V |
probably damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,960 (GRCm39) |
V476L |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,961 (GRCm39) |
V476E |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,811,991 (GRCm39) |
S291R |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,452,931 (GRCm39) |
S601P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,307,283 (GRCm39) |
Y648H |
probably benign |
Het |
| Slfn3 |
A |
G |
11: 83,103,974 (GRCm39) |
T282A |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,391,076 (GRCm39) |
T887I |
probably benign |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,508 (GRCm39) |
N143S |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo4 |
T |
C |
14: 57,841,855 (GRCm39) |
I487V |
probably benign |
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 |
|
IGL03013:Garin5b
|
APN |
7 |
4,761,632 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2014-05-07 |
Incidental Mutation