Incidental Mutation 'R5529:Fgf14'
| ID |
433598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgf14
|
| Ensembl Gene |
ENSMUSG00000025551 |
| Gene Name |
fibroblast growth factor 14 |
| Synonyms |
Fhf4 |
| MMRRC Submission |
043087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R5529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123977907-124677127 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123980455 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 212
(H212L)
|
| 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 |
probably damaging
Transcript: ENSMUST00000026631
AA Change: H212L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: H212L
| 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 |
possibly damaging
Transcript: ENSMUST00000095529
AA Change: H217L
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: H217L
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,264,881 (GRCm38) |
Y2079C |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,472,101 (GRCm38) |
R236G |
probably damaging |
Het |
| Alpl |
T |
A |
4: 137,746,422 (GRCm38) |
N323I |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,828,379 (GRCm38) |
E172G |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 59,793,865 (GRCm38) |
|
probably null |
Het |
| Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,825,359 (GRCm38) |
|
probably null |
Het |
| Ces2e |
G |
T |
8: 104,929,911 (GRCm38) |
V258L |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,459,057 (GRCm38) |
F1041S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,754,536 (GRCm38) |
I114V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 25,739,560 (GRCm38) |
R496Q |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,703,209 (GRCm38) |
R2523Q |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,764,126 (GRCm38) |
R1335S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,422,059 (GRCm38) |
N102S |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,373,950 (GRCm38) |
L712F |
probably benign |
Het |
| Fgf1 |
G |
T |
18: 38,858,604 (GRCm38) |
F37L |
probably damaging |
Het |
| Gm10036 |
A |
T |
18: 15,832,801 (GRCm38) |
Q3L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,156,650 (GRCm38) |
F789L |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,551,828 (GRCm38) |
T3074N |
probably damaging |
Het |
| Katnb1 |
C |
T |
8: 95,097,672 (GRCm38) |
R495C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,588,003 (GRCm38) |
H122Y |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,542,075 (GRCm38) |
S427L |
probably benign |
Het |
| Med9 |
T |
G |
11: 59,960,660 (GRCm38) |
V105G |
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 56,721,059 (GRCm38) |
V43D |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,714,946 (GRCm38) |
C359S |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 37,084,909 (GRCm38) |
I280F |
possibly damaging |
Het |
| Or51e1 |
A |
T |
7: 102,709,693 (GRCm38) |
K145* |
probably null |
Het |
| Paxbp1 |
T |
A |
16: 91,030,513 (GRCm38) |
Y478F |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,332,466 (GRCm38) |
E92K |
probably benign |
Het |
| Prom1 |
G |
T |
5: 44,026,768 (GRCm38) |
L449M |
probably damaging |
Het |
| Psg28 |
G |
A |
7: 18,430,448 (GRCm38) |
T113I |
probably benign |
Het |
| Reln |
A |
C |
5: 21,932,715 (GRCm38) |
V2493G |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,345,832 (GRCm38) |
V1686I |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,086,652 (GRCm38) |
I122V |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,121,568 (GRCm38) |
Y721H |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,463,922 (GRCm38) |
F223S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,655,466 (GRCm38) |
L367Q |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 20,021,301 (GRCm38) |
D363Y |
probably damaging |
Het |
| Tbc1d8 |
T |
G |
1: 39,372,755 (GRCm38) |
Y1000S |
probably benign |
Het |
| Tdp2 |
A |
T |
13: 24,838,236 (GRCm38) |
K213* |
probably null |
Het |
| Tmem89 |
T |
C |
9: 108,915,477 (GRCm38) |
I146T |
probably damaging |
Het |
| Vhl |
T |
C |
6: 113,629,463 (GRCm38) |
V147A |
probably benign |
Het |
| Vmn2r23 |
C |
T |
6: 123,713,451 (GRCm38) |
L429F |
probably benign |
Het |
| Vrk2 |
T |
C |
11: 26,499,036 (GRCm38) |
D186G |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,983,163 (GRCm38) |
F1222L |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,506,734 (GRCm38) |
S7P |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 32,978,433 (GRCm38) |
I494K |
possibly damaging |
Het |
| Zfp655 |
A |
G |
5: 145,244,736 (GRCm38) |
E468G |
probably damaging |
Het |
|
| Other mutations in Fgf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Fgf14
|
APN |
14 |
123,980,372 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL02733:Fgf14
|
APN |
14 |
123,983,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02939:Fgf14
|
APN |
14 |
124,132,479 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0517:Fgf14
|
UTSW |
14 |
123,983,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:Fgf14
|
UTSW |
14 |
124,676,603 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1034:Fgf14
|
UTSW |
14 |
124,132,534 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1183:Fgf14
|
UTSW |
14 |
124,676,524 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1466:Fgf14
|
UTSW |
14 |
124,676,539 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1466:Fgf14
|
UTSW |
14 |
124,676,539 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1584:Fgf14
|
UTSW |
14 |
124,676,539 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1768:Fgf14
|
UTSW |
14 |
124,676,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2190:Fgf14
|
UTSW |
14 |
123,983,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2307:Fgf14
|
UTSW |
14 |
123,983,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3743:Fgf14
|
UTSW |
14 |
124,676,620 (GRCm38) |
missense |
probably benign |
|
|
R3847:Fgf14
|
UTSW |
14 |
123,980,389 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4859:Fgf14
|
UTSW |
14 |
124,192,433 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5655:Fgf14
|
UTSW |
14 |
124,192,416 (GRCm38) |
missense |
probably benign |
|
|
R6242:Fgf14
|
UTSW |
14 |
124,676,528 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6958:Fgf14
|
UTSW |
14 |
124,676,597 (GRCm38) |
missense |
probably benign |
|
|
R7460:Fgf14
|
UTSW |
14 |
124,676,693 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7726:Fgf14
|
UTSW |
14 |
124,136,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8900:Fgf14
|
UTSW |
14 |
123,983,914 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGACAGCATAAGACAAGC -3'
(R):5'- GCTGCTGTCCTGTTATCAATGG -3'
Sequencing Primer
(F):5'- TTTTCCGCCACAGGAGCAG -3'
(R):5'- CAATGGGATTGAGTTCATTCTCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation