Incidental Mutation 'R4408:Fndc5'
| ID |
327755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc5
|
| Ensembl Gene |
ENSMUSG00000001334 |
| Gene Name |
fibronectin type III domain containing 5 |
| Synonyms |
Pxp, 1500001L03Rik, PeP |
| MMRRC Submission |
041690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129030792-129038386 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 129036322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102600]
|
| AlphaFold |
Q8K4Z2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102600
|
| SMART Domains |
Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
31 |
111 |
7.34e-9 |
SMART |
|
Pfam:DUF4808
|
146 |
204 |
4.7e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,000 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,504,041 (GRCm39) |
V92A |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
| Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
| Osr2 |
T |
C |
15: 35,300,617 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Pop5 |
C |
T |
5: 115,378,836 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,742,592 (GRCm39) |
R957L |
probably damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
| Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
| Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
probably benign |
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 |
|
IGL03336:Fndc5
|
APN |
4 |
129,033,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTTGCCTTTTGCGGAG -3'
(R):5'- TCAGCCATGGACATTGCTG -3'
Sequencing Primer
(F):5'- CCTTTTGCGGAGTGCCAAG -3'
(R):5'- CCATGGACATTGCTGAGGTAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation