Incidental Mutation 'R4161:Fads2b'
ID |
321509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fads2b
|
Ensembl Gene |
ENSMUSG00000075217 |
Gene Name |
fatty acid desaturase 2B |
Synonyms |
4833423E24Rik |
MMRRC Submission |
041004-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R4161 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 85348853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 86
(K86N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
AlphaFold |
Q0VAX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099923
AA Change: K86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097507 Gene: ENSMUSG00000075217 AA Change: K86N
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
A |
G |
9: 121,738,588 (GRCm39) |
Y321C |
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,728 (GRCm39) |
S163P |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,382,234 (GRCm39) |
M70T |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,935,281 (GRCm39) |
I339N |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cxcl2 |
A |
T |
5: 91,051,881 (GRCm39) |
|
probably null |
Het |
Exosc3 |
T |
C |
4: 45,320,619 (GRCm39) |
|
probably benign |
Het |
Fat1 |
G |
A |
8: 45,489,824 (GRCm39) |
A3579T |
probably benign |
Het |
Fat4 |
G |
A |
3: 38,996,958 (GRCm39) |
V1726I |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,982,198 (GRCm39) |
|
probably benign |
Het |
Igkv3-12 |
T |
A |
6: 70,495,542 (GRCm39) |
V23E |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,402,919 (GRCm39) |
C95R |
possibly damaging |
Het |
Kif16b |
G |
A |
2: 142,549,324 (GRCm39) |
H1064Y |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Plec |
T |
C |
15: 76,063,851 (GRCm39) |
E2141G |
possibly damaging |
Het |
Pou6f1 |
A |
G |
15: 100,478,724 (GRCm39) |
S395P |
probably damaging |
Het |
Prss12 |
A |
T |
3: 123,279,176 (GRCm39) |
K418* |
probably null |
Het |
Rtn3 |
G |
A |
19: 7,460,444 (GRCm39) |
A2V |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,281,898 (GRCm39) |
T452A |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
Spred3 |
A |
G |
7: 28,861,210 (GRCm39) |
L323P |
probably damaging |
Het |
Srprb |
A |
G |
9: 103,078,529 (GRCm39) |
F67S |
possibly damaging |
Het |
Tk2 |
T |
C |
8: 104,965,465 (GRCm39) |
S101G |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,658,751 (GRCm39) |
L1135P |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Usp38 |
C |
T |
8: 81,719,967 (GRCm39) |
A421T |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,833,277 (GRCm39) |
N3058K |
probably damaging |
Het |
Vmn1r221 |
G |
A |
13: 23,402,176 (GRCm39) |
|
noncoding transcript |
Het |
Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,356 (GRCm39) |
S707P |
probably 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 |
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 |
|
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'- CAGCAGCATTGTGGAAAGGC -3'
(R):5'- ACCGATAGCTAATGGGAATCC -3'
Sequencing Primer
(F):5'- GGAGGGGAACACACACACAC -3'
(R):5'- TAGCTAATGGGAATCCGACAGC -3'
|
Posted On |
2015-06-12 |