Incidental Mutation 'IGL01434:Garin1b'
ID |
84270 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Garin1b
|
Ensembl Gene |
ENSMUSG00000039742 |
Gene Name |
golgi associated RAB2 interactor 1B |
Synonyms |
LOC330277, Fam71f1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL01434
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29319139-29336018 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29320700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090487]
[ENSMUST00000163229]
[ENSMUST00000164560]
[ENSMUST00000166462]
|
AlphaFold |
Q3UZD7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090487
AA Change: V108A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087973 Gene: ENSMUSG00000039742 AA Change: V108A
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
136 |
210 |
5e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163229
|
SMART Domains |
Protein: ENSMUSP00000132402 Gene: ENSMUSG00000039742
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164560
AA Change: V108A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126496 Gene: ENSMUSG00000039742 AA Change: V108A
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
137 |
208 |
7e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166462
AA Change: V108A
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132703 Gene: ENSMUSG00000039742 AA Change: V108A
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
136 |
210 |
3.1e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168771
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171782
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
Other mutations in Garin1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02342:Garin1b
|
APN |
6 |
29,323,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0402:Garin1b
|
UTSW |
6 |
29,323,901 (GRCm39) |
missense |
probably benign |
0.01 |
R0467:Garin1b
|
UTSW |
6 |
29,326,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Garin1b
|
UTSW |
6 |
29,326,576 (GRCm39) |
missense |
probably benign |
0.01 |
R1773:Garin1b
|
UTSW |
6 |
29,334,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1950:Garin1b
|
UTSW |
6 |
29,335,815 (GRCm39) |
splice site |
probably null |
|
R4259:Garin1b
|
UTSW |
6 |
29,320,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R4305:Garin1b
|
UTSW |
6 |
29,326,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4351:Garin1b
|
UTSW |
6 |
29,320,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R4508:Garin1b
|
UTSW |
6 |
29,323,764 (GRCm39) |
missense |
probably benign |
0.04 |
R5014:Garin1b
|
UTSW |
6 |
29,326,723 (GRCm39) |
intron |
probably benign |
|
R5249:Garin1b
|
UTSW |
6 |
29,323,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5506:Garin1b
|
UTSW |
6 |
29,319,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R6212:Garin1b
|
UTSW |
6 |
29,319,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Garin1b
|
UTSW |
6 |
29,334,045 (GRCm39) |
missense |
probably benign |
|
R6949:Garin1b
|
UTSW |
6 |
29,323,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7047:Garin1b
|
UTSW |
6 |
29,323,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7562:Garin1b
|
UTSW |
6 |
29,323,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R8346:Garin1b
|
UTSW |
6 |
29,334,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R9061:Garin1b
|
UTSW |
6 |
29,323,902 (GRCm39) |
missense |
probably benign |
0.27 |
X0065:Garin1b
|
UTSW |
6 |
29,326,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |