Incidental Mutation 'R5351:Fstl1'
| ID |
423815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl1
|
| Ensembl Gene |
ENSMUSG00000022816 |
| Gene Name |
follistatin-like 1 |
| Synonyms |
TSC-36 |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.767)
|
| Stock # |
R5351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
37597417-37656878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37649542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114763]
|
| AlphaFold |
Q62356 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114763
AA Change: V252A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: V252A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FOLN
|
28 |
51 |
6.8e-7 |
SMART |
|
KAZAL
|
51 |
96 |
4.48e-16 |
SMART |
|
low complexity region
|
99 |
110 |
N/A |
INTRINSIC |
|
EFh
|
146 |
173 |
5.43e1 |
SMART |
|
EFh
|
195 |
223 |
5.08e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127495
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, soft and enlarged trachea, cyanosis, primary atelectasis, lung epithelial cell hyperplasia, over-expanded bronchiole, impaired pneumocyte differentiation and maturation, and decreased surfactant production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
| Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
probably benign |
Het |
|
| Other mutations in Fstl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Fstl1
|
APN |
16 |
37,647,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Fstl1
|
UTSW |
16 |
37,636,167 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0413:Fstl1
|
UTSW |
16 |
37,641,516 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1325:Fstl1
|
UTSW |
16 |
37,649,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1816:Fstl1
|
UTSW |
16 |
37,647,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2264:Fstl1
|
UTSW |
16 |
37,597,653 (GRCm39) |
splice site |
probably benign |
|
|
R3809:Fstl1
|
UTSW |
16 |
37,647,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Fstl1
|
UTSW |
16 |
37,642,965 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5601:Fstl1
|
UTSW |
16 |
37,647,161 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6039:Fstl1
|
UTSW |
16 |
37,641,538 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6039:Fstl1
|
UTSW |
16 |
37,641,538 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6849:Fstl1
|
UTSW |
16 |
37,641,521 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6983:Fstl1
|
UTSW |
16 |
37,651,980 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7243:Fstl1
|
UTSW |
16 |
37,647,088 (GRCm39) |
missense |
probably benign |
|
|
R9170:Fstl1
|
UTSW |
16 |
37,647,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9752:Fstl1
|
UTSW |
16 |
37,649,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTGAGAAAGGGGCATG -3'
(R):5'- TCTCTCTAACTGGAGGCTTCTG -3'
Sequencing Primer
(F):5'- GCATGTAAGTGCCCAGACTGTATC -3'
(R):5'- CTGGGGTAATTGTCACACCTGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation