Incidental Mutation 'R0943:Fads2b'
ID |
81953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fads2b
|
Ensembl Gene |
ENSMUSG00000075217 |
Gene Name |
fatty acid desaturase 2B |
Synonyms |
4833423E24Rik |
MMRRC Submission |
039082-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R0943 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85319109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 398
(D398N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
AlphaFold |
Q0VAX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099923
AA Change: D398N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097507 Gene: ENSMUSG00000075217 AA Change: D398N
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
C |
13: 59,648,416 (GRCm39) |
N468S |
probably benign |
Het |
Card6 |
A |
G |
15: 5,129,768 (GRCm39) |
S543P |
probably damaging |
Het |
Celsr1 |
T |
G |
15: 85,787,489 (GRCm39) |
T2750P |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,539,135 (GRCm39) |
M2341T |
probably damaging |
Het |
Dym |
A |
G |
18: 75,419,840 (GRCm39) |
*670W |
probably null |
Het |
Ehbp1 |
T |
C |
11: 22,045,883 (GRCm39) |
D597G |
probably benign |
Het |
Emx1 |
G |
A |
6: 85,180,901 (GRCm39) |
W206* |
probably null |
Het |
Esr1 |
A |
G |
10: 4,696,781 (GRCm39) |
K210R |
probably damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fam72a |
T |
C |
1: 131,456,517 (GRCm39) |
S27P |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,000,925 (GRCm39) |
C1152S |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,874,402 (GRCm39) |
V2276I |
probably benign |
Het |
Hoxb13 |
A |
G |
11: 96,086,799 (GRCm39) |
E202G |
probably benign |
Het |
Lcmt1 |
T |
G |
7: 123,000,662 (GRCm39) |
|
probably null |
Het |
Nars2 |
C |
T |
7: 96,605,138 (GRCm39) |
|
probably benign |
Het |
Neil3 |
ATATTTATTTATTTATTTATTTATTTATTTATT |
ATATTTATTTATTTATTTATTTATTTATTTATTTATT |
8: 54,062,404 (GRCm39) |
|
probably benign |
Het |
Nup153 |
T |
C |
13: 46,850,248 (GRCm39) |
|
probably benign |
Het |
Or4c10b |
T |
C |
2: 89,711,305 (GRCm39) |
V45A |
probably benign |
Het |
Or5b112 |
C |
A |
19: 13,319,157 (GRCm39) |
H12N |
probably benign |
Het |
Prkar2a |
T |
C |
9: 108,610,475 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
C |
1: 138,038,902 (GRCm39) |
T209A |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf26rt |
T |
C |
6: 76,473,398 (GRCm39) |
H406R |
probably benign |
Het |
Rprd2 |
C |
T |
3: 95,691,559 (GRCm39) |
V239I |
possibly damaging |
Het |
Sgo2b |
A |
G |
8: 64,384,369 (GRCm39) |
F209S |
possibly damaging |
Het |
Shfl |
A |
T |
9: 20,784,258 (GRCm39) |
H160L |
possibly damaging |
Het |
Spry2 |
T |
C |
14: 106,131,021 (GRCm39) |
Y55C |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,037,243 (GRCm39) |
V667E |
probably benign |
Het |
Tbrg4 |
A |
G |
11: 6,569,008 (GRCm39) |
F388L |
probably damaging |
Het |
Tmt1a |
T |
C |
15: 100,202,839 (GRCm39) |
Y20H |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,033,356 (GRCm39) |
T351A |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,371,781 (GRCm39) |
N969S |
possibly damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,691,397 (GRCm39) |
C375* |
probably null |
Het |
Vps45 |
T |
A |
3: 95,964,336 (GRCm39) |
I62F |
probably benign |
Het |
Xab2 |
A |
G |
8: 3,663,667 (GRCm39) |
F388L |
probably benign |
Het |
Zfp735 |
A |
G |
11: 73,602,909 (GRCm39) |
T618A |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,748,342 (GRCm39) |
R279S |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGCAAAACATCTCATGGTGCCTG -3'
(R):5'- TGAAATGGGACACGCCATATCATCAAA -3'
Sequencing Primer
(F):5'- TGCCTGTCCTCAGGAAATTG -3'
(R):5'- aagtggagggggaaaagaag -3'
|
Posted On |
2013-11-08 |