Incidental Mutation 'R5525:Gemin6'
| ID |
431829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gemin6
|
| Ensembl Gene |
ENSMUSG00000055760 |
| Gene Name |
gem nuclear organelle associated protein 6 |
| Synonyms |
2810470M17Rik, 2610019B15Rik |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.749)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80531870-80535926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 80535178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 46
(V46G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069486]
|
| AlphaFold |
Q9CX53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069486
AA Change: V46G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: V46G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gemin6
|
1 |
166 |
9.7e-102 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156869
|
| Meta Mutation Damage Score |
0.4198 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,731 (GRCm39) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,901,848 (GRCm39) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,671,495 (GRCm39) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 53,014,151 (GRCm39) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,504,692 (GRCm39) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,001,273 (GRCm39) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,442,065 (GRCm39) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,123,492 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,912,457 (GRCm39) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,043,228 (GRCm39) |
L1236Q |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,554,872 (GRCm39) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,504,026 (GRCm39) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,769,354 (GRCm39) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm39) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,083,926 (GRCm39) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,878,427 (GRCm39) |
I457L |
probably benign |
Het |
| Or12d13 |
C |
T |
17: 37,647,517 (GRCm39) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,206 (GRCm39) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,683 (GRCm39) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,210,269 (GRCm39) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,813,972 (GRCm39) |
S554T |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,920 (GRCm39) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,223,559 (GRCm39) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,171,020 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,535,023 (GRCm39) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,846 (GRCm39) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,259,538 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,006 (GRCm39) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,939 (GRCm39) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,645,773 (GRCm39) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,485,803 (GRCm39) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,541,685 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm39) |
P2164T |
possibly damaging |
Het |
|
| Other mutations in Gemin6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Gemin6
|
APN |
17 |
80,535,294 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02129:Gemin6
|
APN |
17 |
80,535,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Gemin6
|
UTSW |
17 |
80,535,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Gemin6
|
UTSW |
17 |
80,533,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Gemin6
|
UTSW |
17 |
80,533,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Gemin6
|
UTSW |
17 |
80,535,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Gemin6
|
UTSW |
17 |
80,535,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Gemin6
|
UTSW |
17 |
80,535,498 (GRCm39) |
nonsense |
probably null |
|
|
R4885:Gemin6
|
UTSW |
17 |
80,535,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5335:Gemin6
|
UTSW |
17 |
80,533,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5447:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5451:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5452:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5522:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5526:Gemin6
|
UTSW |
17 |
80,535,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7291:Gemin6
|
UTSW |
17 |
80,535,204 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7576:Gemin6
|
UTSW |
17 |
80,533,155 (GRCm39) |
nonsense |
probably null |
|
|
R7845:Gemin6
|
UTSW |
17 |
80,533,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8842:Gemin6
|
UTSW |
17 |
80,533,115 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8862:Gemin6
|
UTSW |
17 |
80,535,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Gemin6
|
UTSW |
17 |
80,535,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCACATTTAAGACAGATGGCC -3'
(R):5'- AGCCATTTCTTGAGGCTGGTC -3'
Sequencing Primer
(F):5'- AGGGGCCAAGCTTTTAATCC -3'
(R):5'- GGCTGGTCCTCTTCTCTTCCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation