Incidental Mutation 'IGL03278:Gm4847'
| ID |
415479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4847
|
| Ensembl Gene |
ENSMUSG00000051081 |
| Gene Name |
predicted gene 4847 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
166628971-166647693 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166635036 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 295
(I295N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
| AlphaFold |
G3X946 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046662
AA Change: I295N
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: I295N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
3 |
533 |
1.4e-235 |
PFAM |
|
Pfam:Pyr_redox_2
|
4 |
241 |
5.2e-11 |
PFAM |
|
Pfam:Pyr_redox_3
|
7 |
221 |
6.7e-15 |
PFAM |
|
Pfam:NAD_binding_8
|
8 |
92 |
1.6e-7 |
PFAM |
|
Pfam:K_oxygenase
|
77 |
333 |
5.2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,158,825 (GRCm38) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,562,001 (GRCm38) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,204,457 (GRCm38) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,131,481 (GRCm38) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,242,510 (GRCm38) |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,370,702 (GRCm38) |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,709,452 (GRCm38) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,604,365 (GRCm38) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,496,965 (GRCm38) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,635,182 (GRCm38) |
A86V |
probably benign |
Het |
| Fam160a2 |
C |
A |
7: 105,385,124 (GRCm38) |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 71,869,596 (GRCm38) |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,745,579 (GRCm38) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,745,580 (GRCm38) |
|
probably null |
Het |
| H2-M10.6 |
C |
A |
17: 36,813,823 (GRCm38) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,656,762 (GRCm38) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 58,044,056 (GRCm38) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,116,446 (GRCm38) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,711,745 (GRCm38) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,426,832 (GRCm38) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,822,192 (GRCm38) |
R55L |
probably benign |
Het |
| Olfr161 |
C |
T |
16: 3,593,107 (GRCm38) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,734,247 (GRCm38) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,766,731 (GRCm38) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,907,758 (GRCm38) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,159,691 (GRCm38) |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,583,822 (GRCm38) |
|
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,232,047 (GRCm38) |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,689,518 (GRCm38) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,589,659 (GRCm38) |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,302,770 (GRCm38) |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,733,568 (GRCm38) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,191,483 (GRCm38) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,571,036 (GRCm38) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,790,996 (GRCm38) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,622,026 (GRCm38) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,849,116 (GRCm38) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,455,100 (GRCm38) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 85,294,961 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Gm4847 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Gm4847
|
APN |
1 |
166,630,392 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL00943:Gm4847
|
APN |
1 |
166,642,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00948:Gm4847
|
APN |
1 |
166,630,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01146:Gm4847
|
APN |
1 |
166,634,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01345:Gm4847
|
APN |
1 |
166,634,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01654:Gm4847
|
APN |
1 |
166,638,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01817:Gm4847
|
APN |
1 |
166,634,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02028:Gm4847
|
APN |
1 |
166,642,196 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02031:Gm4847
|
APN |
1 |
166,635,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02412:Gm4847
|
APN |
1 |
166,641,738 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Disturbance
|
UTSW |
1 |
166,640,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ruckus
|
UTSW |
1 |
166,630,255 (GRCm38) |
missense |
probably benign |
0.07 |
|
PIT4494001:Gm4847
|
UTSW |
1 |
166,640,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0009:Gm4847
|
UTSW |
1 |
166,630,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0009:Gm4847
|
UTSW |
1 |
166,630,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0121:Gm4847
|
UTSW |
1 |
166,642,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0492:Gm4847
|
UTSW |
1 |
166,630,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Gm4847
|
UTSW |
1 |
166,630,255 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1136:Gm4847
|
UTSW |
1 |
166,630,366 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1522:Gm4847
|
UTSW |
1 |
166,641,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1730:Gm4847
|
UTSW |
1 |
166,638,339 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1818:Gm4847
|
UTSW |
1 |
166,638,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1819:Gm4847
|
UTSW |
1 |
166,638,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2145:Gm4847
|
UTSW |
1 |
166,634,903 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4628:Gm4847
|
UTSW |
1 |
166,630,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4850:Gm4847
|
UTSW |
1 |
166,642,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5065:Gm4847
|
UTSW |
1 |
166,634,790 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5068:Gm4847
|
UTSW |
1 |
166,638,384 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5493:Gm4847
|
UTSW |
1 |
166,630,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5500:Gm4847
|
UTSW |
1 |
166,635,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5990:Gm4847
|
UTSW |
1 |
166,643,373 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6018:Gm4847
|
UTSW |
1 |
166,643,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6178:Gm4847
|
UTSW |
1 |
166,642,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6190:Gm4847
|
UTSW |
1 |
166,630,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6220:Gm4847
|
UTSW |
1 |
166,634,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6654:Gm4847
|
UTSW |
1 |
166,630,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7634:Gm4847
|
UTSW |
1 |
166,632,680 (GRCm38) |
missense |
probably benign |
|
|
R7796:Gm4847
|
UTSW |
1 |
166,642,250 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7856:Gm4847
|
UTSW |
1 |
166,634,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7877:Gm4847
|
UTSW |
1 |
166,640,006 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8130:Gm4847
|
UTSW |
1 |
166,638,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8361:Gm4847
|
UTSW |
1 |
166,642,270 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8496:Gm4847
|
UTSW |
1 |
166,642,192 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8935:Gm4847
|
UTSW |
1 |
166,642,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9023:Gm4847
|
UTSW |
1 |
166,641,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9055:Gm4847
|
UTSW |
1 |
166,640,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9310:Gm4847
|
UTSW |
1 |
166,632,712 (GRCm38) |
missense |
probably benign |
|
|
R9513:Gm4847
|
UTSW |
1 |
166,634,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9653:Gm4847
|
UTSW |
1 |
166,640,013 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
X0018:Gm4847
|
UTSW |
1 |
166,634,950 (GRCm38) |
missense |
probably benign |
0.24 |
|
X0024:Gm4847
|
UTSW |
1 |
166,632,715 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1177:Gm4847
|
UTSW |
1 |
166,634,773 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation