Incidental Mutation 'IGL02705:Garin4'
| ID |
304303 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garin4
|
| Ensembl Gene |
ENSMUSG00000091017 |
| Gene Name |
golgi associated RAB2 interactor family member 4 |
| Synonyms |
4933417M04Rik, Fam71a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190894781-190897014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 190896499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 48
(Y48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171798]
|
| AlphaFold |
B7XG49 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171798
AA Change: Y48C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: Y48C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3699
|
120 |
193 |
3.6e-31 |
PFAM |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
513 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
G |
1: 151,791,264 (GRCm39) |
F99S |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,430,974 (GRCm39) |
P937S |
probably benign |
Het |
| Apom |
T |
G |
17: 35,349,471 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
G |
2: 59,778,604 (GRCm39) |
I752T |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,964,914 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,181 (GRCm39) |
F1425L |
possibly damaging |
Het |
| Bco1 |
G |
A |
8: 117,844,242 (GRCm39) |
V319M |
possibly damaging |
Het |
| Dmwd |
C |
A |
7: 18,814,769 (GRCm39) |
T473K |
probably benign |
Het |
| Gata2 |
C |
T |
6: 88,182,346 (GRCm39) |
A438V |
possibly damaging |
Het |
| Ifnz |
A |
G |
4: 88,701,574 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,257,960 (GRCm39) |
I1859V |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,856 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,098 (GRCm39) |
L71P |
probably damaging |
Het |
| Nfia |
T |
G |
4: 97,671,605 (GRCm39) |
L105R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,056 (GRCm39) |
T127S |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,550,449 (GRCm39) |
Y292H |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,696 (GRCm39) |
N137K |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,686,924 (GRCm39) |
C94S |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,372 (GRCm39) |
S320P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,637,788 (GRCm39) |
V438A |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,142,500 (GRCm39) |
G71R |
probably damaging |
Het |
| Styk1 |
C |
T |
6: 131,289,546 (GRCm39) |
V23I |
probably benign |
Het |
| Tmprss5 |
C |
A |
9: 49,018,447 (GRCm39) |
N92K |
probably benign |
Het |
| Trpm6 |
T |
G |
19: 18,754,097 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,677,114 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,017 (GRCm39) |
F808S |
probably damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,062 (GRCm39) |
A431V |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,101,250 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
G |
T |
18: 84,577,156 (GRCm39) |
S1319* |
probably null |
Het |
|
| Other mutations in Garin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Garin4
|
APN |
1 |
190,895,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01541:Garin4
|
APN |
1 |
190,896,606 (GRCm39) |
nonsense |
probably null |
|
|
IGL02364:Garin4
|
APN |
1 |
190,895,713 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02573:Garin4
|
APN |
1 |
190,896,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Garin4
|
APN |
1 |
190,895,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03283:Garin4
|
APN |
1 |
190,895,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0234:Garin4
|
UTSW |
1 |
190,895,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Garin4
|
UTSW |
1 |
190,895,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0402:Garin4
|
UTSW |
1 |
190,896,637 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0635:Garin4
|
UTSW |
1 |
190,895,924 (GRCm39) |
missense |
probably benign |
|
|
R0750:Garin4
|
UTSW |
1 |
190,896,682 (GRCm39) |
start gained |
probably benign |
|
|
R1118:Garin4
|
UTSW |
1 |
190,896,682 (GRCm39) |
start gained |
probably benign |
|
|
R1521:Garin4
|
UTSW |
1 |
190,896,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1573:Garin4
|
UTSW |
1 |
190,896,682 (GRCm39) |
start gained |
probably benign |
|
|
R1654:Garin4
|
UTSW |
1 |
190,895,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Garin4
|
UTSW |
1 |
190,896,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1900:Garin4
|
UTSW |
1 |
190,896,631 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2912:Garin4
|
UTSW |
1 |
190,895,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2939:Garin4
|
UTSW |
1 |
190,896,103 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3747:Garin4
|
UTSW |
1 |
190,896,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Garin4
|
UTSW |
1 |
190,895,205 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6038:Garin4
|
UTSW |
1 |
190,894,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6038:Garin4
|
UTSW |
1 |
190,894,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7179:Garin4
|
UTSW |
1 |
190,896,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Garin4
|
UTSW |
1 |
190,895,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7261:Garin4
|
UTSW |
1 |
190,896,308 (GRCm39) |
missense |
unknown |
|
|
R7326:Garin4
|
UTSW |
1 |
190,896,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Garin4
|
UTSW |
1 |
190,895,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7960:Garin4
|
UTSW |
1 |
190,895,645 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8120:Garin4
|
UTSW |
1 |
190,895,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8916:Garin4
|
UTSW |
1 |
190,895,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9011:Garin4
|
UTSW |
1 |
190,895,258 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9090:Garin4
|
UTSW |
1 |
190,895,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Garin4
|
UTSW |
1 |
190,895,258 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9189:Garin4
|
UTSW |
1 |
190,894,900 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9271:Garin4
|
UTSW |
1 |
190,895,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Garin4
|
UTSW |
1 |
190,895,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation