Incidental Mutation 'R1034:Fgf14'
| ID |
95462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgf14
|
| Ensembl Gene |
ENSMUSG00000025551 |
| Gene Name |
fibroblast growth factor 14 |
| Synonyms |
Fhf4 |
| MMRRC Submission |
039133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R1034 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
124215319-124914539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124369946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 113
(V113I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026631
(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: V113I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: V113I
| 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: ENSMUST00000095529
AA Change: V118I
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: V118I
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
74 |
205 |
1.75e-63 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.2%
|
| 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 |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,815,370 (GRCm39) |
F206S |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,386 (GRCm39) |
V622A |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,595,939 (GRCm39) |
L437Q |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,281,057 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,234 (GRCm39) |
Y151C |
probably damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,533 (GRCm39) |
S281P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,302,617 (GRCm39) |
V1625I |
probably damaging |
Het |
| Eftud2 |
A |
C |
11: 102,740,010 (GRCm39) |
D461E |
probably benign |
Het |
| Epgn |
A |
G |
5: 91,180,080 (GRCm39) |
Y74C |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Ggcx |
G |
A |
6: 72,391,814 (GRCm39) |
R68H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,646 (GRCm39) |
S16P |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,375,890 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,542,995 (GRCm39) |
F522S |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,088 (GRCm39) |
V435A |
probably benign |
Het |
| Khdrbs2 |
T |
C |
1: 32,506,872 (GRCm39) |
L172P |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,025 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,329,165 (GRCm39) |
Y2194* |
probably null |
Het |
| Or6c8 |
T |
A |
10: 128,915,830 (GRCm39) |
M1L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,661 (GRCm39) |
S33T |
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,323 (GRCm39) |
S172P |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,190,817 (GRCm39) |
L58* |
probably null |
Het |
| Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
| Slc24a2 |
T |
A |
4: 86,950,512 (GRCm39) |
K428N |
probably damaging |
Het |
| Spen |
C |
A |
4: 141,203,063 (GRCm39) |
V1855L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,621,350 (GRCm39) |
P1071S |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,981,128 (GRCm39) |
C1079R |
probably damaging |
Het |
| Traf3ip1 |
G |
T |
1: 91,446,041 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
C |
16: 18,067,573 (GRCm39) |
F82S |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,921,790 (GRCm39) |
D1401G |
probably damaging |
Het |
| Zfp352 |
T |
A |
4: 90,112,393 (GRCm39) |
S178T |
possibly damaging |
Het |
| Zfp758 |
G |
T |
17: 22,594,740 (GRCm39) |
E409* |
probably null |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACATCATTAGCTTCTGCTGCTGC -3'
(R):5'- GCCCCTCAAACCCTTCAAAATGTTG -3'
Sequencing Primer
(F):5'- GCTCTAGCTATTTTACCAATACTGTG -3'
(R):5'- CCCTTCAAAATGTTGTGAGCAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation