Incidental Mutation 'R4335:Garin2'
| ID |
323747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin2
|
| Ensembl Gene |
ENSMUSG00000056987 |
| Gene Name |
golgi associated RAB2 interactor 2 |
| Synonyms |
Fam71d, 4921509E07Rik, 4930516C23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
78738309-78781290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78759006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077968]
[ENSMUST00000218697]
[ENSMUST00000219551]
[ENSMUST00000220101]
[ENSMUST00000220396]
|
| AlphaFold |
D3YV92 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077968
AA Change: S109P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077119
Gene: ENSMUSG00000056987
AA Change: S109P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
111 |
184 |
1.6e-25 |
PFAM |
|
low complexity region
|
237 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218697
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219551
AA Change: S109P
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220101
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220396
AA Change: S80P
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Garin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02123:Garin2
|
APN |
12 |
78,780,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02738:Garin2
|
APN |
12 |
78,780,989 (GRCm39) |
splice site |
probably benign |
|
|
R0760:Garin2
|
UTSW |
12 |
78,761,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Garin2
|
UTSW |
12 |
78,762,280 (GRCm39) |
unclassified |
probably benign |
|
|
R1833:Garin2
|
UTSW |
12 |
78,762,280 (GRCm39) |
unclassified |
probably benign |
|
|
R4437:Garin2
|
UTSW |
12 |
78,761,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Garin2
|
UTSW |
12 |
78,761,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Garin2
|
UTSW |
12 |
78,762,045 (GRCm39) |
nonsense |
probably null |
|
|
R5445:Garin2
|
UTSW |
12 |
78,761,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Garin2
|
UTSW |
12 |
78,761,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5965:Garin2
|
UTSW |
12 |
78,757,080 (GRCm39) |
missense |
unknown |
|
|
R5993:Garin2
|
UTSW |
12 |
78,762,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6644:Garin2
|
UTSW |
12 |
78,762,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Garin2
|
UTSW |
12 |
78,762,131 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7052:Garin2
|
UTSW |
12 |
78,766,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7098:Garin2
|
UTSW |
12 |
78,766,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7189:Garin2
|
UTSW |
12 |
78,758,982 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7305:Garin2
|
UTSW |
12 |
78,761,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7578:Garin2
|
UTSW |
12 |
78,762,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7604:Garin2
|
UTSW |
12 |
78,761,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Garin2
|
UTSW |
12 |
78,758,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Garin2
|
UTSW |
12 |
78,766,403 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8008:Garin2
|
UTSW |
12 |
78,761,817 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8680:Garin2
|
UTSW |
12 |
78,762,057 (GRCm39) |
unclassified |
probably benign |
|
|
R8683:Garin2
|
UTSW |
12 |
78,762,057 (GRCm39) |
unclassified |
probably benign |
|
|
R8792:Garin2
|
UTSW |
12 |
78,761,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Garin2
|
UTSW |
12 |
78,757,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9112:Garin2
|
UTSW |
12 |
78,757,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9290:Garin2
|
UTSW |
12 |
78,759,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9620:Garin2
|
UTSW |
12 |
78,762,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Garin2
|
UTSW |
12 |
78,761,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Garin2
|
UTSW |
12 |
78,758,994 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATAGCAACCCCTTTCCTG -3'
(R):5'- TGCCAGATGCCATGTAACC -3'
Sequencing Primer
(F):5'- GTTCTCTACATCCAGGTCAATAGGAG -3'
(R):5'- TGCCAGATGCCATGTAACCAAAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation