Incidental Mutation 'R6038:Garin5a'
| ID |
486676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5a
|
| Ensembl Gene |
ENSMUSG00000051113 |
| Gene Name |
golgi associated RAB2 interactor 5A |
| Synonyms |
1700021P22Rik, Fam71e1, 0610007G24Rik, 1700021N13Rik |
| MMRRC Submission |
044208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6038 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44146005-44150910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44149719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 147
(R147W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107927]
[ENSMUST00000118515]
[ENSMUST00000118808]
[ENSMUST00000138328]
[ENSMUST00000165208]
[ENSMUST00000205359]
[ENSMUST00000205422]
[ENSMUST00000206398]
|
| AlphaFold |
A1L3C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107927
AA Change: R147W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113
AA Change: R147W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
91 |
160 |
5.6e-20 |
PFAM |
|
coiled coil region
|
164 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118515
|
| SMART Domains |
Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118808
|
| SMART Domains |
Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123928
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138328
|
| SMART Domains |
Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165208
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
IG
|
54 |
150 |
6.26e-5 |
SMART |
|
PDB:2LHU|A
|
160 |
236 |
7e-9 |
PDB |
|
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
|
IG
|
258 |
337 |
5.21e-2 |
SMART |
|
IG
|
347 |
430 |
1.2e-1 |
SMART |
|
IG
|
440 |
526 |
2.72e-5 |
SMART |
|
IG
|
546 |
631 |
1.68e-5 |
SMART |
|
FN3
|
634 |
717 |
3.29e-11 |
SMART |
|
FN3
|
732 |
815 |
1.23e-10 |
SMART |
|
IG
|
842 |
925 |
6.07e-3 |
SMART |
|
FN3
|
928 |
1010 |
2.08e-8 |
SMART |
|
IGc2
|
1055 |
1122 |
6.91e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205359
AA Change: R147W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205397
|
| Meta Mutation Damage Score |
0.1749 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
| Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
| Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
| Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
| Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
| H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
| Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
| Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
| Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
| Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
| Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
| Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
| Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
| Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
| Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
| Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
| Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
| Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
| Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
| Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
probably benign |
Het |
|
| Other mutations in Garin5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1355:Garin5a
|
UTSW |
7 |
44,146,115 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5308:Garin5a
|
UTSW |
7 |
44,149,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Garin5a
|
UTSW |
7 |
44,150,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6038:Garin5a
|
UTSW |
7 |
44,149,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Garin5a
|
UTSW |
7 |
44,149,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8994:Garin5a
|
UTSW |
7 |
44,146,342 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9716:Garin5a
|
UTSW |
7 |
44,150,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Garin5a
|
UTSW |
7 |
44,149,944 (GRCm39) |
nonsense |
probably null |
|
|
RF003:Garin5a
|
UTSW |
7 |
44,149,951 (GRCm39) |
frame shift |
probably null |
|
|
RF013:Garin5a
|
UTSW |
7 |
44,149,944 (GRCm39) |
frame shift |
probably null |
|
|
RF015:Garin5a
|
UTSW |
7 |
44,149,946 (GRCm39) |
frame shift |
probably null |
|
|
RF017:Garin5a
|
UTSW |
7 |
44,149,955 (GRCm39) |
frame shift |
probably null |
|
|
RF017:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
|
RF020:Garin5a
|
UTSW |
7 |
44,149,959 (GRCm39) |
frame shift |
probably null |
|
|
RF034:Garin5a
|
UTSW |
7 |
44,149,947 (GRCm39) |
frame shift |
probably null |
|
|
RF038:Garin5a
|
UTSW |
7 |
44,149,946 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Garin5a
|
UTSW |
7 |
44,149,955 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Garin5a
|
UTSW |
7 |
44,149,945 (GRCm39) |
frame shift |
probably null |
|
|
RF045:Garin5a
|
UTSW |
7 |
44,149,956 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Garin5a
|
UTSW |
7 |
44,149,960 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Garin5a
|
UTSW |
7 |
44,149,953 (GRCm39) |
frame shift |
probably null |
|
|
RF050:Garin5a
|
UTSW |
7 |
44,149,945 (GRCm39) |
frame shift |
probably null |
|
|
RF051:Garin5a
|
UTSW |
7 |
44,149,947 (GRCm39) |
frame shift |
probably null |
|
|
RF055:Garin5a
|
UTSW |
7 |
44,149,957 (GRCm39) |
nonsense |
probably null |
|
|
RF056:Garin5a
|
UTSW |
7 |
44,149,951 (GRCm39) |
frame shift |
probably null |
|
|
RF057:Garin5a
|
UTSW |
7 |
44,149,956 (GRCm39) |
frame shift |
probably null |
|
|
RF060:Garin5a
|
UTSW |
7 |
44,149,957 (GRCm39) |
nonsense |
probably null |
|
|
RF060:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACCATGACTGAGCCTCC -3'
(R):5'- TTCCTTCCTCAGACCCAGAG -3'
Sequencing Primer
(F):5'- ATGACTGAGCCTCCCCTTC -3'
(R):5'- CTGGCCCAACATCCCTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation