Incidental Mutation 'R2964:Fstl3'
| ID |
255981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl3
|
| Ensembl Gene |
ENSMUSG00000020325 |
| Gene Name |
follistatin-like 3 |
| Synonyms |
E030038F23Rik, Flrg |
| MMRRC Submission |
040520-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2964 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79613108-79618464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79617057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 200
(V200A)
|
| 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: V200A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020575
Gene: ENSMUSG00000020325
AA Change: V200A
| 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 |
|
| Meta Mutation Damage Score |
0.1120 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
| Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
| H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
| Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCTTGACAGCAGGGTGG -3'
(R):5'- ACTTTGGGGCCACCTACAAG -3'
Sequencing Primer
(F):5'- TAGTGTCCCAGGGCAGG -3'
(R):5'- TTGGGGCCACCTACAAGTATGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation