Incidental Mutation 'IGL00941:Fgf21'
| ID |
27841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fgf21
|
| Ensembl Gene |
ENSMUSG00000030827 |
| Gene Name |
fibroblast growth factor 21 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL00941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45263314-45264914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45264597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008605]
[ENSMUST00000033099]
[ENSMUST00000209379]
[ENSMUST00000210150]
|
| AlphaFold |
Q9JJN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008605
|
| SMART Domains |
Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_11
|
39 |
355 |
3.1e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033099
AA Change: V45A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
FGF
|
44 |
169 |
3.95e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210150
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating glucose levels, oxygen consumption, and gluconeogenesis in fasted mice and increased circulating ketone levels in fed mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,536,104 (GRCm39) |
I521S |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,870,376 (GRCm39) |
K265I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,889,187 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,153,082 (GRCm39) |
Y215H |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,082,729 (GRCm39) |
M393V |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,229,365 (GRCm39) |
I242V |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,118,727 (GRCm39) |
L657F |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,327 (GRCm39) |
V675M |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,836,255 (GRCm39) |
I412T |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,749 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
A |
T |
4: 88,521,551 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,389,856 (GRCm39) |
M471V |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,794 (GRCm39) |
V73I |
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,920,652 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
A |
T |
17: 57,202,086 (GRCm39) |
S428R |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,501,740 (GRCm39) |
H141L |
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,480,599 (GRCm39) |
C392F |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,727 (GRCm39) |
F550L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Stk36 |
T |
A |
1: 74,663,093 (GRCm39) |
M588K |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,471,808 (GRCm39) |
A415T |
probably benign |
Het |
| Zfp839 |
C |
A |
12: 110,827,382 (GRCm39) |
S424R |
probably damaging |
Het |
| Zkscan6 |
G |
T |
11: 65,705,573 (GRCm39) |
G95W |
probably damaging |
Het |
|
| Other mutations in Fgf21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Fgf21
|
APN |
7 |
45,264,648 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02286:Fgf21
|
APN |
7 |
45,264,561 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03074:Fgf21
|
APN |
7 |
45,263,605 (GRCm39) |
missense |
probably benign |
|
|
R0212:Fgf21
|
UTSW |
7 |
45,263,526 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0233:Fgf21
|
UTSW |
7 |
45,264,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Fgf21
|
UTSW |
7 |
45,264,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5151:Fgf21
|
UTSW |
7 |
45,263,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Fgf21
|
UTSW |
7 |
45,264,729 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R6002:Fgf21
|
UTSW |
7 |
45,264,651 (GRCm39) |
missense |
probably benign |
|
|
R9331:Fgf21
|
UTSW |
7 |
45,263,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9570:Fgf21
|
UTSW |
7 |
45,264,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Fgf21
|
UTSW |
7 |
45,264,703 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation