Incidental Mutation 'IGL02733:Fgf14'
| ID |
305553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fgf14
|
| Ensembl Gene |
ENSMUSG00000025551 |
| Gene Name |
fibroblast growth factor 14 |
| Synonyms |
Fhf4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL02733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
124215319-124914539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124221213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 197
(P197Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026631]
[ENSMUST00000095529]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026631
AA Change: P192Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: P192Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
FGF
|
69 |
200 |
1.75e-63 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095529
AA Change: P197Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: P197Q
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
74 |
205 |
1.75e-63 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190088
|
| 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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display impaired balance and grip strength. [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 |
|---|
| Acnat1 |
T |
A |
4: 49,447,793 (GRCm39) |
T245S |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,646 (GRCm39) |
I718V |
probably benign |
Het |
| Cbs |
T |
A |
17: 31,844,005 (GRCm39) |
N209Y |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,302,300 (GRCm39) |
C955R |
probably damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,662 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,536,079 (GRCm39) |
R59Q |
possibly damaging |
Het |
| Dtx1 |
A |
G |
5: 120,819,500 (GRCm39) |
L566P |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,094 (GRCm39) |
R83G |
probably benign |
Het |
| Gcc1 |
G |
A |
6: 28,420,661 (GRCm39) |
Q66* |
probably null |
Het |
| Gypc |
T |
C |
18: 32,692,879 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,819 (GRCm39) |
A1225V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,358,274 (GRCm39) |
T2452A |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,943,152 (GRCm39) |
I2V |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,394,025 (GRCm39) |
I14T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,658,677 (GRCm39) |
D400V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,711,184 (GRCm39) |
Y3206H |
probably damaging |
Het |
| Lce1k |
T |
A |
3: 92,714,192 (GRCm39) |
|
probably benign |
Het |
| Mcpt4 |
C |
T |
14: 56,298,124 (GRCm39) |
M142I |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,775,076 (GRCm39) |
E2168G |
probably benign |
Het |
| Myom3 |
G |
T |
4: 135,541,614 (GRCm39) |
E1402* |
probably null |
Het |
| Nfyb |
G |
T |
10: 82,590,867 (GRCm39) |
Q55K |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,284,136 (GRCm39) |
K137E |
possibly damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,220 (GRCm39) |
D406E |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,594 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
C |
18: 42,781,793 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 31,279,701 (GRCm39) |
T178A |
probably damaging |
Het |
| Prr11 |
C |
T |
11: 86,994,371 (GRCm39) |
A92T |
possibly damaging |
Het |
| Racgap1 |
G |
T |
15: 99,537,585 (GRCm39) |
S67R |
probably damaging |
Het |
| Scn10a |
G |
A |
9: 119,445,771 (GRCm39) |
P1462S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,147,747 (GRCm39) |
E29G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,021 (GRCm39) |
T133S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,430,296 (GRCm39) |
H269R |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,054,118 (GRCm39) |
N526K |
probably benign |
Het |
|
| Other mutations in Fgf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Fgf14
|
APN |
14 |
124,217,784 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02939:Fgf14
|
APN |
14 |
124,369,891 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0517:Fgf14
|
UTSW |
14 |
124,221,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Fgf14
|
UTSW |
14 |
124,914,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1034:Fgf14
|
UTSW |
14 |
124,369,946 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1183:Fgf14
|
UTSW |
14 |
124,913,936 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1466:Fgf14
|
UTSW |
14 |
124,913,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1466:Fgf14
|
UTSW |
14 |
124,913,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1584:Fgf14
|
UTSW |
14 |
124,913,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1768:Fgf14
|
UTSW |
14 |
124,913,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2190:Fgf14
|
UTSW |
14 |
124,221,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Fgf14
|
UTSW |
14 |
124,221,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Fgf14
|
UTSW |
14 |
124,914,032 (GRCm39) |
missense |
probably benign |
|
|
R3847:Fgf14
|
UTSW |
14 |
124,217,801 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4859:Fgf14
|
UTSW |
14 |
124,429,845 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5529:Fgf14
|
UTSW |
14 |
124,217,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Fgf14
|
UTSW |
14 |
124,429,828 (GRCm39) |
missense |
probably benign |
|
|
R6242:Fgf14
|
UTSW |
14 |
124,913,940 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6958:Fgf14
|
UTSW |
14 |
124,914,009 (GRCm39) |
missense |
probably benign |
|
|
R7460:Fgf14
|
UTSW |
14 |
124,914,105 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7726:Fgf14
|
UTSW |
14 |
124,373,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Fgf14
|
UTSW |
14 |
124,221,326 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation