Incidental Mutation 'IGL03336:Fndc5'
| ID |
417046 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fndc5
|
| Ensembl Gene |
ENSMUSG00000001334 |
| Gene Name |
fibronectin type III domain containing 5 |
| Synonyms |
Pxp, 1500001L03Rik, PeP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL03336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129030792-129038386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129033711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 160
(F160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102600]
|
| AlphaFold |
Q8K4Z2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102600
AA Change: F160L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
AA Change: F160L
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
31 |
111 |
7.34e-9 |
SMART |
|
Pfam:DUF4808
|
146 |
204 |
4.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124746
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a type I transmembrane protein containing fibronectin type III repeat. The encoded transmembrane protein undergoes proteolytic processing to generate a soluble hormone named irisin that is secreted into the bloodstream. The expression of this gene followed by the secretion of irisin from skeletal muscle is induced by exercise. The ectopic expression of the encoded protein in mice causes an elevation of irisin in blood and improves metabolic health. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
| Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
| Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
| Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
| Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
| Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
| Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
| Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
| Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
| Other mutations in Fndc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02656:Fndc5
|
APN |
4 |
129,033,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
N/A - 287:Fndc5
|
UTSW |
4 |
129,033,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Fndc5
|
UTSW |
4 |
129,033,630 (GRCm39) |
splice site |
probably benign |
|
|
R1202:Fndc5
|
UTSW |
4 |
129,033,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3962:Fndc5
|
UTSW |
4 |
129,033,688 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4408:Fndc5
|
UTSW |
4 |
129,036,322 (GRCm39) |
splice site |
probably null |
|
|
R5379:Fndc5
|
UTSW |
4 |
129,035,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Fndc5
|
UTSW |
4 |
129,032,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Fndc5
|
UTSW |
4 |
129,033,688 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6951:Fndc5
|
UTSW |
4 |
129,032,573 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7027:Fndc5
|
UTSW |
4 |
129,033,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7112:Fndc5
|
UTSW |
4 |
129,035,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8254:Fndc5
|
UTSW |
4 |
129,032,514 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8947:Fndc5
|
UTSW |
4 |
129,030,929 (GRCm39) |
missense |
probably benign |
0.04 |
|
RF014:Fndc5
|
UTSW |
4 |
129,035,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z31818:Fndc5
|
UTSW |
4 |
129,033,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation