Incidental Mutation 'IGL01479:Gin1'
ID |
88550 |
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 # |
IGL01479
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
97697897-97721434 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97720097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 364
(T364I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027571]
[ENSMUST00000112844]
[ENSMUST00000138142]
|
AlphaFold |
Q8K259 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027571
AA Change: T364I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027571 Gene: ENSMUSG00000026333 AA Change: T364I
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: ENSMUST00000112844
AA Change: T453I
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108464 Gene: ENSMUSG00000026333 AA Change: T453I
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 |
probably benign
Transcript: ENSMUST00000159041
|
SMART Domains |
Protein: ENSMUSP00000124284 Gene: ENSMUSG00000026335
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
Pfam:NHL
|
50 |
78 |
4.2e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably damaging |
Het |
|
Other mutations in Gin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01508:Gin1
|
APN |
1 |
97,705,162 (GRCm39) |
missense |
probably benign |
|
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 |
2013-11-18 |