Incidental Mutation 'IGL01508:Gin1'
| ID |
89118 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gin1
|
| Ensembl Gene |
ENSMUSG00000026333 |
| Gene Name |
gypsy retrotransposon integrase 1 |
| Synonyms |
4930429M06, 4930429M06Rik, Zh2c2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
97697897-97721434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97705162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 84
(V84A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027571]
[ENSMUST00000112842]
[ENSMUST00000112844]
[ENSMUST00000138142]
|
| AlphaFold |
Q8K259 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027571
AA Change: V84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: V84A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
SCOP:d1exqa_
|
112 |
208 |
2e-5 |
SMART |
|
low complexity region
|
254 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112842
AA Change: V84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108461
Gene: ENSMUSG00000026333
AA Change: V84A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112844
AA Change: V84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: V84A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
PDB:4IKF|B
|
84 |
289 |
3e-8 |
PDB |
|
SCOP:d1exqa_
|
145 |
297 |
4e-16 |
SMART |
|
low complexity region
|
343 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188101
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000189031
AA Change: V13A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Gin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Gin1
|
APN |
1 |
97,720,097 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01874:Gin1
|
APN |
1 |
97,710,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Gin1
|
UTSW |
1 |
97,710,741 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0299:Gin1
|
UTSW |
1 |
97,710,741 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1302:Gin1
|
UTSW |
1 |
97,703,314 (GRCm39) |
nonsense |
probably null |
|
|
R1607:Gin1
|
UTSW |
1 |
97,713,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Gin1
|
UTSW |
1 |
97,713,780 (GRCm39) |
nonsense |
probably null |
|
|
R1739:Gin1
|
UTSW |
1 |
97,713,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1769:Gin1
|
UTSW |
1 |
97,720,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1817:Gin1
|
UTSW |
1 |
97,712,951 (GRCm39) |
splice site |
probably null |
|
|
R1818:Gin1
|
UTSW |
1 |
97,712,951 (GRCm39) |
splice site |
probably null |
|
|
R1819:Gin1
|
UTSW |
1 |
97,712,951 (GRCm39) |
splice site |
probably null |
|
|
R1907:Gin1
|
UTSW |
1 |
97,703,172 (GRCm39) |
unclassified |
probably benign |
|
|
R2325:Gin1
|
UTSW |
1 |
97,720,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Gin1
|
UTSW |
1 |
97,720,145 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4571:Gin1
|
UTSW |
1 |
97,712,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Gin1
|
UTSW |
1 |
97,720,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Gin1
|
UTSW |
1 |
97,712,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Gin1
|
UTSW |
1 |
97,712,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Gin1
|
UTSW |
1 |
97,703,257 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6360:Gin1
|
UTSW |
1 |
97,720,264 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7035:Gin1
|
UTSW |
1 |
97,720,100 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7229:Gin1
|
UTSW |
1 |
97,712,876 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8269:Gin1
|
UTSW |
1 |
97,710,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8877:Gin1
|
UTSW |
1 |
97,710,941 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9149:Gin1
|
UTSW |
1 |
97,710,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Gin1
|
UTSW |
1 |
97,705,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Gin1
|
UTSW |
1 |
97,712,498 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9697:Gin1
|
UTSW |
1 |
97,712,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9787:Gin1
|
UTSW |
1 |
97,703,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation