Incidental Mutation 'IGL01754:Fads2b'
ID |
153417 |
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 # |
IGL01754
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85348899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 71
(Q71R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
AlphaFold |
Q0VAX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099923
AA Change: Q71R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097507 Gene: ENSMUSG00000075217 AA Change: Q71R
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 |
Adat1 |
A |
G |
8: 112,708,942 (GRCm39) |
C294R |
probably damaging |
Het |
Afap1l1 |
A |
G |
18: 61,870,565 (GRCm39) |
|
probably null |
Het |
Art2a |
C |
T |
7: 101,204,059 (GRCm39) |
V160M |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,366,795 (GRCm39) |
|
probably null |
Het |
Cwc22 |
A |
G |
2: 77,754,883 (GRCm39) |
I231T |
probably damaging |
Het |
Efr3a |
C |
A |
15: 65,726,569 (GRCm39) |
A554E |
probably damaging |
Het |
Fam3b |
T |
C |
16: 97,277,607 (GRCm39) |
T76A |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gm4454 |
T |
C |
7: 38,268,386 (GRCm39) |
T253A |
probably damaging |
Het |
Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
Igkv5-39 |
A |
G |
6: 69,877,661 (GRCm39) |
S12P |
probably damaging |
Het |
Itga10 |
G |
A |
3: 96,564,091 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
T |
16: 22,898,364 (GRCm39) |
D407V |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,432 (GRCm39) |
D579G |
probably damaging |
Het |
Plcg1 |
C |
A |
2: 160,603,353 (GRCm39) |
Q1175K |
probably damaging |
Het |
Scml4 |
T |
A |
10: 42,833,746 (GRCm39) |
|
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,906,449 (GRCm39) |
L390P |
probably damaging |
Het |
Tectb |
A |
G |
19: 55,172,445 (GRCm39) |
Q164R |
probably damaging |
Het |
Trim52 |
C |
T |
14: 106,344,623 (GRCm39) |
Q94* |
probably null |
Het |
Usp17ld |
A |
C |
7: 102,899,870 (GRCm39) |
V354G |
probably benign |
Het |
Usp43 |
T |
C |
11: 67,747,007 (GRCm39) |
H895R |
probably benign |
Het |
Vmn2r24 |
T |
C |
6: 123,781,120 (GRCm39) |
L442P |
probably damaging |
Het |
|
Other mutations in Fads2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-02-04 |