Incidental Mutation 'R3769:Fgf10'
| ID |
273188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgf10
|
| Ensembl Gene |
ENSMUSG00000021732 |
| Gene Name |
fibroblast growth factor 10 |
| Synonyms |
AEY17, FGF-10, Gsfaey17 |
| MMRRC Submission |
040746-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
118851199-118928651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118918083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 124
(V124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022246]
|
| AlphaFold |
O35565 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022246
AA Change: V124F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: V124F
| 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
|
| Meta Mutation Damage Score |
0.5313 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,736,386 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
| Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 47,035,311 (GRCm39) |
|
probably null |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,785,357 (GRCm39) |
Y78H |
probably damaging |
Het |
| Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,546 (GRCm39) |
I298F |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fgf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03400:Fgf10
|
APN |
13 |
118,918,151 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCTCAGTTTGGCTATCC -3'
(R):5'- AGTTGAACAAGCTGTTTGCC -3'
Sequencing Primer
(F):5'- GGCTCAGTTTGGCTATCCCATTG -3'
(R):5'- GCTGCGAATCCTATTAGTAGCGATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation