Incidental Mutation 'IGL02680:Fstl3'
| ID |
303336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fstl3
|
| Ensembl Gene |
ENSMUSG00000020325 |
| Gene Name |
follistatin-like 3 |
| Synonyms |
E030038F23Rik, Flrg |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79613108-79618464 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 79614506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 69
(W69*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020573]
[ENSMUST00000020575]
[ENSMUST00000169684]
|
| AlphaFold |
Q9EQC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020573
|
| SMART Domains |
Protein: ENSMUSP00000020573
Gene: ENSMUSG00000020323
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
39 |
264 |
1.53e-70 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020575
AA Change: W69*
|
| SMART Domains |
Protein: ENSMUSP00000020575
Gene: ENSMUSG00000020325
AA Change: W69*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FOLN
|
96 |
118 |
4.13e-6 |
SMART |
|
KAZAL
|
116 |
165 |
1.69e-11 |
SMART |
|
FOLN
|
168 |
191 |
1.09e-5 |
SMART |
|
KAZAL
|
197 |
241 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167987
|
| SMART Domains |
Protein: ENSMUSP00000130448
Gene: ENSMUSG00000020323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trypsin
|
1 |
75 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169684
|
| SMART Domains |
Protein: ENSMUSP00000132215
Gene: ENSMUSG00000020323
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
39 |
264 |
1.53e-70 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170380
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171681
|
| SMART Domains |
Protein: ENSMUSP00000131642
Gene: ENSMUSG00000020323
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
87 |
3.16e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Adult mice homozygous for a knock-out allele display increased pancreatic islet number and size, beta cell hyperplasia, hepatic steatosis, increased heart weight, mild hypertension, and alterations in glucose homeostasis and fat distribution. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
Het |
|
| Other mutations in Fstl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03165:Fstl3
|
APN |
10 |
79,615,799 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0382:Fstl3
|
UTSW |
10 |
79,613,141 (GRCm39) |
missense |
probably benign |
|
|
R2113:Fstl3
|
UTSW |
10 |
79,617,012 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2964:Fstl3
|
UTSW |
10 |
79,617,057 (GRCm39) |
missense |
probably benign |
|
|
R2965:Fstl3
|
UTSW |
10 |
79,617,057 (GRCm39) |
missense |
probably benign |
|
|
R2966:Fstl3
|
UTSW |
10 |
79,617,057 (GRCm39) |
missense |
probably benign |
|
|
R5211:Fstl3
|
UTSW |
10 |
79,616,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6225:Fstl3
|
UTSW |
10 |
79,615,843 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7389:Fstl3
|
UTSW |
10 |
79,615,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Fstl3
|
UTSW |
10 |
79,615,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Fstl3
|
UTSW |
10 |
79,615,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Fstl3
|
UTSW |
10 |
79,614,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Fstl3
|
UTSW |
10 |
79,615,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0003:Fstl3
|
UTSW |
10 |
79,615,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Fstl3
|
UTSW |
10 |
79,615,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Fstl3
|
UTSW |
10 |
79,617,032 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Fstl3
|
UTSW |
10 |
79,615,942 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation