Incidental Mutation 'R5659:Gin1'
| ID |
443956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gin1
|
| Ensembl Gene |
ENSMUSG00000026333 |
| Gene Name |
gypsy retrotransposon integrase 1 |
| Synonyms |
4930429M06, 4930429M06Rik, Zh2c2 |
| MMRRC Submission |
043303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97697897-97721434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97703257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027571]
[ENSMUST00000112842]
[ENSMUST00000112844]
[ENSMUST00000138142]
|
| AlphaFold |
Q8K259 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027571
AA Change: T27A
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: T27A
| 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 |
possibly damaging
Transcript: ENSMUST00000112842
AA Change: T27A
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108461
Gene: ENSMUSG00000026333
AA Change: T27A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112844
AA Change: T27A
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: T27A
| 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 |
noncoding transcript
Transcript: ENSMUST00000122925
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138142
AA Change: T27A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189031
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
| Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
| Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
| Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
| Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
| Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
| Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
| Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
| Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
| Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
| Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
| Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
| Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
| Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
| Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
| Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
| Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
| Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAATGCTCAATCCATGC -3'
(R):5'- CAGCCTTCAGTTAGCTTTCATG -3'
Sequencing Primer
(F):5'- TGGGAATGCTCAATCCATGCATAAG -3'
(R):5'- GCCTTCAGTTAGCTTTCATGTTTTAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation