Incidental Mutation 'R3694:Fads2b'
| ID |
268892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fads2b
|
| Ensembl Gene |
ENSMUSG00000075217 |
| Gene Name |
fatty acid desaturase 2B |
| Synonyms |
4833423E24Rik |
| MMRRC Submission |
040689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85314436-85349279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85324454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 291
(I291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099923]
|
| AlphaFold |
Q0VAX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099923
AA Change: I291L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: I291L
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
| Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syt7 |
G |
T |
19: 10,413,000 (GRCm39) |
R265L |
possibly damaging |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
| Zfyve28 |
A |
G |
5: 34,374,812 (GRCm39) |
F401L |
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 |
|
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'- CTCAAGTAGGGTGACACAGG -3'
(R):5'- CAACAATGAGGGTTACTTGGGG -3'
Sequencing Primer
(F):5'- CTCTGGGAGTCTGCACTAAGTGAC -3'
(R):5'- AGGGTTACTTGGGGGAAATTTTTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation