Incidental Mutation 'IGL03152:Fads2b'
ID |
411123 |
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 # |
IGL03152
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85330648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
AlphaFold |
Q0VAX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099923
AA Change: S220P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097507 Gene: ENSMUSG00000075217 AA Change: S220P
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d1 |
T |
A |
5: 16,527,566 (GRCm39) |
N540K |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,646,693 (GRCm39) |
E43G |
probably damaging |
Het |
Car14 |
A |
C |
3: 95,806,157 (GRCm39) |
C301W |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,217,458 (GRCm39) |
V9I |
possibly damaging |
Het |
Edar |
A |
G |
10: 58,445,817 (GRCm39) |
F249S |
possibly damaging |
Het |
Fhip2a |
C |
A |
19: 57,367,264 (GRCm39) |
T269K |
probably damaging |
Het |
Gm4799 |
A |
G |
10: 82,790,797 (GRCm39) |
|
noncoding transcript |
Het |
Grk4 |
T |
C |
5: 34,902,701 (GRCm39) |
S418P |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,636,598 (GRCm39) |
S774P |
probably benign |
Het |
Kif23 |
A |
G |
9: 61,837,058 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Myef2l |
A |
T |
3: 10,153,334 (GRCm39) |
K34N |
probably benign |
Het |
Or5al1 |
A |
T |
2: 85,990,030 (GRCm39) |
I228N |
possibly damaging |
Het |
Pcgf6 |
A |
T |
19: 47,037,344 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,868,036 (GRCm39) |
R265C |
probably damaging |
Het |
Smgc |
A |
G |
15: 91,725,625 (GRCm39) |
K2R |
possibly damaging |
Het |
Stx5a |
T |
C |
19: 8,727,138 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
T |
12: 76,012,486 (GRCm39) |
N2560I |
probably benign |
Het |
Tuba3a |
A |
T |
6: 125,258,300 (GRCm39) |
L230Q |
probably damaging |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,230,001 (GRCm39) |
|
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,960,972 (GRCm39) |
S452P |
probably damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,991,469 (GRCm39) |
C173R |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,814,008 (GRCm39) |
|
probably null |
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 |
IGL02701:Fads2b
|
APN |
2 |
85,314,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02833:Fads2b
|
APN |
2 |
85,332,551 (GRCm39) |
missense |
possibly damaging |
0.46 |
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 |
2016-08-02 |