Incidental Mutation 'IGL03165:Fstl3'
| ID |
411592 |
| 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 # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79613108-79618464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79615799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 95
(D95G)
|
| 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 benign
Transcript: ENSMUST00000020575
AA Change: D95G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020575
Gene: ENSMUSG00000020325
AA Change: D95G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
probably damaging |
Het |
|
| Other mutations in Fstl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02680:Fstl3
|
APN |
10 |
79,614,506 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation