Incidental Mutation 'IGL02136:Fgf14'
| ID |
281319 |
| 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: 0.158)
|
| Stock # |
IGL02136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
124215319-124914539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124217784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 240
(P240S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026631]
[ENSMUST00000049681]
[ENSMUST00000095529]
[ENSMUST00000132026]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026631
AA Change: P240S
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: P240S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
FGF
|
69 |
200 |
1.75e-63 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049681
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
62 |
164 |
7.9e-12 |
PROSPERO |
|
EGF_like
|
184 |
217 |
6.95e1 |
SMART |
|
EGF
|
275 |
311 |
2.25e1 |
SMART |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
368 |
398 |
3.6e-8 |
PFAM |
|
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
456 |
N/A |
INTRINSIC |
|
Blast:EGF_like
|
457 |
486 |
4e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095529
AA Change: P245S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: P245S
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
74 |
205 |
1.75e-63 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132026
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
22 |
50 |
3.54e-8 |
PROSPERO |
|
internal_repeat_1
|
23 |
87 |
7.45e-14 |
PROSPERO |
|
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
|
EGF
|
151 |
187 |
2.25e1 |
SMART |
|
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
239 |
274 |
1.5e-7 |
PFAM |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
332 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
334 |
362 |
3.54e-8 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186300
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
| Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
| Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
| Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
| Cracr2a |
T |
C |
6: 127,606,893 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
| Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
| Fpgt |
G |
T |
3: 154,798,989 (GRCm39) |
A2E |
probably benign |
Het |
| Galntl5 |
T |
A |
5: 25,425,060 (GRCm39) |
S392R |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
| Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
| Ksr2 |
A |
G |
5: 117,754,959 (GRCm39) |
N351S |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
| Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
| Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
| Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
| Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
| Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
| Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
|
| Other mutations in Fgf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02733:Fgf14
|
APN |
14 |
124,221,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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