Incidental Mutation 'R9787:Gin1'
| ID |
734377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gin1
|
| Ensembl Gene |
ENSMUSG00000026333 |
| Gene Name |
gypsy retrotransposon integrase 1 |
| Synonyms |
4930429M06, 4930429M06Rik, Zh2c2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97697897-97721434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97703211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 11
(H11Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027571]
[ENSMUST00000112842]
[ENSMUST00000112844]
[ENSMUST00000138142]
|
| AlphaFold |
Q8K259 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027571
AA Change: H11Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: H11Q
| 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 damaging
Transcript: ENSMUST00000112842
AA Change: H11Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108461
Gene: ENSMUSG00000026333
AA Change: H11Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112844
AA Change: H11Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: H11Q
| 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 |
possibly damaging
Transcript: ENSMUST00000138142
AA Change: H11Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189031
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
| Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
| Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
| Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
| Chst13 |
C |
T |
6: 90,286,074 (GRCm39) |
R296H |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
| Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
| Fam184a |
T |
A |
10: 53,626,864 (GRCm39) |
D38V |
possibly damaging |
Het |
| Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
| Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
| Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
| Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
| Mbnl1 |
T |
A |
3: 60,503,086 (GRCm39) |
N82K |
probably damaging |
Het |
| Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
| Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,223 (GRCm39) |
D157E |
probably benign |
Het |
| Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
| Sugp2 |
A |
G |
8: 70,695,428 (GRCm39) |
K134E |
probably benign |
Het |
| Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
| Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
| Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCCTCACAGATGATATTCTGG -3'
(R):5'- TGCTTACCAGCCTTCAGTTAGC -3'
Sequencing Primer
(F):5'- TGGGAATGCTCAATCCATGC -3'
(R):5'- CCAAGTTACTAGAGAATTTGCAAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation