Incidental Mutation 'IGL01667:Fgf22'
| ID |
103356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fgf22
|
| Ensembl Gene |
ENSMUSG00000020327 |
| Gene Name |
fibroblast growth factor 22 |
| Synonyms |
2210414E06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79590887-79593629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79592588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 115
(P115L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020577]
[ENSMUST00000047203]
[ENSMUST00000219228]
[ENSMUST00000219981]
|
| AlphaFold |
Q9ESS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020577
AA Change: P115L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: P115L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FGF
|
30 |
159 |
1.73e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047203
|
| SMART Domains |
Protein: ENSMUSP00000039486
Gene: ENSMUSG00000035890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zinc_ribbon_9
|
9 |
40 |
5e-11 |
PFAM |
|
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
RING
|
231 |
271 |
5.68e-9 |
SMART |
|
low complexity region
|
293 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219981
|
| 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. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vesicle clustering in glutamatergic synapses, decreased miniature excitatory postsynaptic currents, enhanced paired-pulse facilitation, increased synaptic depression, and decreased susceptibility topentylenetetrazol-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
| Other mutations in Fgf22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Fgf22
|
APN |
10 |
79,592,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Fgf22
|
APN |
10 |
79,592,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1108:Fgf22
|
UTSW |
10 |
79,592,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Fgf22
|
UTSW |
10 |
79,591,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Fgf22
|
UTSW |
10 |
79,592,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Fgf22
|
UTSW |
10 |
79,592,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Fgf22
|
UTSW |
10 |
79,591,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Fgf22
|
UTSW |
10 |
79,592,830 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7363:Fgf22
|
UTSW |
10 |
79,592,676 (GRCm39) |
missense |
probably benign |
|
|
RF017:Fgf22
|
UTSW |
10 |
79,592,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation