Incidental Mutation 'R1325:Fstl1'
ID |
157196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl1
|
Ensembl Gene |
ENSMUSG00000022816 |
Gene Name |
follistatin-like 1 |
Synonyms |
TSC-36 |
MMRRC Submission |
039391-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.655)
|
Stock # |
R1325 (G1)
|
Quality Score |
167 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
37597417-37656878 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37649083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 197
(D197G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114763]
|
AlphaFold |
Q62356 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114763
AA Change: D197G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110411 Gene: ENSMUSG00000022816 AA Change: D197G
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: 98.9%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
G |
2: 19,499,938 (GRCm39) |
I293T |
possibly damaging |
Het |
Abca14 |
A |
G |
7: 119,846,545 (GRCm39) |
I666V |
probably benign |
Het |
Acsl1 |
G |
A |
8: 46,966,337 (GRCm39) |
V164I |
probably benign |
Het |
Aox3 |
C |
T |
1: 58,215,726 (GRCm39) |
Q1053* |
probably null |
Het |
Arhgap31 |
A |
G |
16: 38,423,304 (GRCm39) |
S921P |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,791,097 (GRCm39) |
M419T |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,235,516 (GRCm39) |
I145T |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,946,562 (GRCm39) |
V456A |
possibly damaging |
Het |
Cry2 |
T |
C |
2: 92,244,115 (GRCm39) |
T353A |
probably damaging |
Het |
Dcxr |
A |
G |
11: 120,617,381 (GRCm39) |
|
probably null |
Het |
Echdc1 |
A |
T |
10: 29,193,544 (GRCm39) |
T14S |
probably benign |
Het |
Fgd6 |
G |
A |
10: 93,963,289 (GRCm39) |
R1129H |
probably damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Krt1 |
A |
T |
15: 101,756,641 (GRCm39) |
|
probably null |
Het |
Lrrc9 |
C |
A |
12: 72,543,878 (GRCm39) |
Q1116K |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,195,844 (GRCm39) |
|
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or2j6 |
G |
A |
7: 139,980,794 (GRCm39) |
P55L |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,311,300 (GRCm39) |
E338G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,730,738 (GRCm39) |
|
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 |
|
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 |
R5351:Fstl1
|
UTSW |
16 |
37,649,542 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CCAGGCGAACCCACTACATTCTTTC -3'
(R):5'- AATGCCCCATACGTTTATGGCCTC -3'
Sequencing Primer
(F):5'- cgaacccactacaTTCTTTCAAGTC -3'
(R):5'- TGGCCTCAATCTTATCATGGAG -3'
|
Posted On |
2014-02-18 |