Incidental Mutation 'IGL02701:Fads2b'
ID |
304116 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fads2b
|
Ensembl Gene |
ENSMUSG00000075217 |
Gene Name |
fatty acid desaturase 2B |
Synonyms |
4833423E24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL02701
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85314513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 480
(L480P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
AlphaFold |
Q0VAX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099923
AA Change: L480P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097507 Gene: ENSMUSG00000075217 AA Change: L480P
Domain | Start | End | E-Value | Type |
Cyt-b5
|
65 |
139 |
6.6e-20 |
SMART |
transmembrane domain
|
176 |
195 |
N/A |
INTRINSIC |
Pfam:FA_desaturase
|
200 |
462 |
1.7e-39 |
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 |
Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
Dalrd3 |
T |
A |
9: 108,449,483 (GRCm39) |
V143D |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
Itga5 |
A |
C |
15: 103,256,193 (GRCm39) |
C920G |
probably damaging |
Het |
Kmt5b |
A |
G |
19: 3,846,681 (GRCm39) |
D118G |
probably benign |
Het |
Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
Mapk1 |
A |
G |
16: 16,833,770 (GRCm39) |
Y41C |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
Sv2a |
T |
A |
3: 96,094,447 (GRCm39) |
C261S |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fads2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01754:Fads2b
|
APN |
2 |
85,348,899 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02348:Fads2b
|
APN |
2 |
85,323,640 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02833:Fads2b
|
APN |
2 |
85,332,551 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03152:Fads2b
|
APN |
2 |
85,330,648 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03283:Fads2b
|
APN |
2 |
85,320,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Fads2b
|
UTSW |
2 |
85,324,476 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0329:Fads2b
|
UTSW |
2 |
85,348,895 (GRCm39) |
missense |
probably benign |
0.11 |
R0330:Fads2b
|
UTSW |
2 |
85,348,895 (GRCm39) |
missense |
probably benign |
0.11 |
R0943:Fads2b
|
UTSW |
2 |
85,319,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R2100:Fads2b
|
UTSW |
2 |
85,330,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R3694:Fads2b
|
UTSW |
2 |
85,324,454 (GRCm39) |
missense |
probably benign |
0.00 |
R3803:Fads2b
|
UTSW |
2 |
85,338,682 (GRCm39) |
splice site |
probably null |
|
R3952:Fads2b
|
UTSW |
2 |
85,330,548 (GRCm39) |
splice site |
probably benign |
|
R4161:Fads2b
|
UTSW |
2 |
85,348,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Fads2b
|
UTSW |
2 |
85,348,990 (GRCm39) |
nonsense |
probably null |
|
R5765:Fads2b
|
UTSW |
2 |
85,314,538 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6104:Fads2b
|
UTSW |
2 |
85,338,693 (GRCm39) |
nonsense |
probably null |
|
R6314:Fads2b
|
UTSW |
2 |
85,332,520 (GRCm39) |
missense |
probably benign |
0.07 |
R6891:Fads2b
|
UTSW |
2 |
85,319,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6891:Fads2b
|
UTSW |
2 |
85,319,149 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7027:Fads2b
|
UTSW |
2 |
85,315,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Fads2b
|
UTSW |
2 |
85,330,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Fads2b
|
UTSW |
2 |
85,330,581 (GRCm39) |
missense |
probably benign |
0.38 |
R8000:Fads2b
|
UTSW |
2 |
85,349,070 (GRCm39) |
missense |
probably benign |
0.00 |
R8737:Fads2b
|
UTSW |
2 |
85,324,387 (GRCm39) |
intron |
probably benign |
|
R9182:Fads2b
|
UTSW |
2 |
85,330,581 (GRCm39) |
missense |
probably benign |
0.01 |
R9303:Fads2b
|
UTSW |
2 |
85,330,649 (GRCm39) |
nonsense |
probably null |
|
R9305:Fads2b
|
UTSW |
2 |
85,330,649 (GRCm39) |
nonsense |
probably null |
|
R9315:Fads2b
|
UTSW |
2 |
85,319,188 (GRCm39) |
missense |
probably benign |
0.06 |
R9319:Fads2b
|
UTSW |
2 |
85,320,757 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Fads2b
|
UTSW |
2 |
85,349,045 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Fads2b
|
UTSW |
2 |
85,332,421 (GRCm39) |
missense |
probably benign |
0.14 |
Z1088:Fads2b
|
UTSW |
2 |
85,314,525 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fads2b
|
UTSW |
2 |
85,348,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2015-04-16 |