Incidental Mutation 'IGL03400:Fgf10'
ID |
421402 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fgf10
|
Ensembl Gene |
ENSMUSG00000021732 |
Gene Name |
fibroblast growth factor 10 |
Synonyms |
AEY17, FGF-10, Gsfaey17 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03400
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
118851199-118928651 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 118918151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022246]
|
AlphaFold |
O35565 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022246
|
SMART Domains |
Protein: ENSMUSP00000022246 Gene: ENSMUSG00000021732
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
FGF
|
77 |
206 |
9.61e-70 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146674
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutants die at birth with multiple abnormalities including absence of lungs, severely truncated limbs, open eyelids, incomplete external genitalia, arrested pancreatic development, lack of mammary glands and impaired epidermal development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
Het |
|
Other mutations in Fgf10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB003:Fgf10
|
UTSW |
13 |
118,925,752 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Fgf10
|
UTSW |
13 |
118,925,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R0487:Fgf10
|
UTSW |
13 |
118,918,147 (GRCm39) |
critical splice donor site |
probably null |
|
R0789:Fgf10
|
UTSW |
13 |
118,925,741 (GRCm39) |
missense |
probably benign |
|
R1876:Fgf10
|
UTSW |
13 |
118,925,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Fgf10
|
UTSW |
13 |
118,925,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Fgf10
|
UTSW |
13 |
118,852,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R3768:Fgf10
|
UTSW |
13 |
118,918,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R3769:Fgf10
|
UTSW |
13 |
118,918,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Fgf10
|
UTSW |
13 |
118,918,045 (GRCm39) |
missense |
probably benign |
0.03 |
R5992:Fgf10
|
UTSW |
13 |
118,852,044 (GRCm39) |
missense |
probably benign |
0.00 |
R6289:Fgf10
|
UTSW |
13 |
118,852,028 (GRCm39) |
missense |
probably benign |
0.01 |
R6301:Fgf10
|
UTSW |
13 |
118,852,047 (GRCm39) |
missense |
probably benign |
0.02 |
R6755:Fgf10
|
UTSW |
13 |
118,925,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R7174:Fgf10
|
UTSW |
13 |
118,851,942 (GRCm39) |
missense |
probably benign |
0.39 |
R7189:Fgf10
|
UTSW |
13 |
118,925,659 (GRCm39) |
missense |
probably benign |
0.02 |
R7926:Fgf10
|
UTSW |
13 |
118,925,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R8407:Fgf10
|
UTSW |
13 |
118,851,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8557:Fgf10
|
UTSW |
13 |
118,918,132 (GRCm39) |
missense |
probably benign |
0.00 |
R8831:Fgf10
|
UTSW |
13 |
118,925,671 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Fgf10
|
UTSW |
13 |
118,852,080 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |