Incidental Mutation 'R3619:Fgf11'
| ID |
268570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgf11
|
| Ensembl Gene |
ENSMUSG00000042826 |
| Gene Name |
fibroblast growth factor 11 |
| Synonyms |
Fhf3 |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.590)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69686894-69692683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69690234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 118
(S118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011285]
[ENSMUST00000045971]
[ENSMUST00000051025]
[ENSMUST00000102585]
|
| AlphaFold |
P70378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011285
AA Change: S118G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826
AA Change: S118G
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
69 |
172 |
6.95e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045971
|
| SMART Domains |
Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
27 |
245 |
3.6e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
252 |
487 |
3.5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051025
|
| SMART Domains |
Protein: ENSMUSP00000132164
Gene: ENSMUSG00000089876
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
Mab-21
|
191 |
494 |
3.31e-43 |
SMART |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102585
AA Change: S118G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826
AA Change: S118G
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
69 |
200 |
3.43e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147791
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
|
| Other mutations in Fgf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02867:Fgf11
|
APN |
11 |
69,690,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0843:Fgf11
|
UTSW |
11 |
69,689,602 (GRCm39) |
splice site |
probably benign |
|
|
R1899:Fgf11
|
UTSW |
11 |
69,692,279 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1900:Fgf11
|
UTSW |
11 |
69,692,279 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4995:Fgf11
|
UTSW |
11 |
69,689,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Fgf11
|
UTSW |
11 |
69,690,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6589:Fgf11
|
UTSW |
11 |
69,690,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Fgf11
|
UTSW |
11 |
69,689,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Fgf11
|
UTSW |
11 |
69,692,421 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGACTAGGCCCTAGACAAG -3'
(R):5'- GGAGATGACAAGCCTATCACCTC -3'
Sequencing Primer
(F):5'- CCTAGACAAGCCAAAACAGGAAGG -3'
(R):5'- GATGACAAGCCTATCACCTCTTCAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation