Incidental Mutation 'IGL01121:Fstl4'
ID |
52336 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fstl4
|
Ensembl Gene |
ENSMUSG00000036264 |
Gene Name |
follistatin-like 4 |
Synonyms |
SPIG1, B230374F23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
IGL01121
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52705464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 47
(F47L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: F47L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: F47L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
KAZAL
|
87 |
132 |
4.7e-13 |
SMART |
Blast:IG_like
|
215 |
241 |
6e-7 |
BLAST |
IGc2
|
260 |
327 |
1.9e-6 |
SMART |
IGc2
|
352 |
419 |
1e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
Other mutations in Fstl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Fstl4
|
APN |
11 |
53,077,102 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00885:Fstl4
|
APN |
11 |
53,039,809 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL00915:Fstl4
|
APN |
11 |
53,067,825 (GRCm39) |
missense |
probably benign |
|
IGL00933:Fstl4
|
APN |
11 |
53,077,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01022:Fstl4
|
APN |
11 |
53,077,568 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01656:Fstl4
|
APN |
11 |
52,891,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01805:Fstl4
|
APN |
11 |
53,077,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01997:Fstl4
|
APN |
11 |
53,053,881 (GRCm39) |
nonsense |
probably null |
|
IGL02386:Fstl4
|
APN |
11 |
52,664,698 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02536:Fstl4
|
APN |
11 |
53,024,851 (GRCm39) |
splice site |
probably benign |
|
IGL02807:Fstl4
|
APN |
11 |
53,077,501 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03037:Fstl4
|
APN |
11 |
53,059,050 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0462:Fstl4
|
UTSW |
11 |
53,077,229 (GRCm39) |
missense |
probably benign |
0.09 |
R1190:Fstl4
|
UTSW |
11 |
52,959,373 (GRCm39) |
missense |
probably benign |
|
R1300:Fstl4
|
UTSW |
11 |
52,959,454 (GRCm39) |
missense |
probably benign |
|
R1626:Fstl4
|
UTSW |
11 |
52,891,117 (GRCm39) |
nonsense |
probably null |
|
R1695:Fstl4
|
UTSW |
11 |
53,056,705 (GRCm39) |
splice site |
probably null |
|
R1699:Fstl4
|
UTSW |
11 |
53,059,005 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1727:Fstl4
|
UTSW |
11 |
52,959,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R1752:Fstl4
|
UTSW |
11 |
53,077,622 (GRCm39) |
missense |
probably benign |
0.09 |
R1866:Fstl4
|
UTSW |
11 |
53,077,225 (GRCm39) |
missense |
probably benign |
0.00 |
R4689:Fstl4
|
UTSW |
11 |
52,959,477 (GRCm39) |
nonsense |
probably null |
|
R5126:Fstl4
|
UTSW |
11 |
53,077,388 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5129:Fstl4
|
UTSW |
11 |
53,077,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Fstl4
|
UTSW |
11 |
52,959,374 (GRCm39) |
missense |
probably benign |
0.01 |
R5578:Fstl4
|
UTSW |
11 |
53,056,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R5715:Fstl4
|
UTSW |
11 |
52,891,243 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6125:Fstl4
|
UTSW |
11 |
53,077,130 (GRCm39) |
missense |
probably benign |
|
R6177:Fstl4
|
UTSW |
11 |
53,059,031 (GRCm39) |
missense |
probably benign |
0.00 |
R6236:Fstl4
|
UTSW |
11 |
53,077,162 (GRCm39) |
missense |
probably benign |
0.00 |
R6311:Fstl4
|
UTSW |
11 |
53,067,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R6611:Fstl4
|
UTSW |
11 |
53,077,552 (GRCm39) |
missense |
probably benign |
0.01 |
R6886:Fstl4
|
UTSW |
11 |
53,077,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Fstl4
|
UTSW |
11 |
53,024,898 (GRCm39) |
missense |
probably benign |
0.03 |
R7423:Fstl4
|
UTSW |
11 |
52,959,382 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7586:Fstl4
|
UTSW |
11 |
52,963,256 (GRCm39) |
missense |
probably benign |
0.00 |
R7756:Fstl4
|
UTSW |
11 |
53,059,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7758:Fstl4
|
UTSW |
11 |
53,059,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7775:Fstl4
|
UTSW |
11 |
53,067,798 (GRCm39) |
nonsense |
probably null |
|
R7953:Fstl4
|
UTSW |
11 |
52,891,050 (GRCm39) |
missense |
probably benign |
0.01 |
R8026:Fstl4
|
UTSW |
11 |
52,959,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R8043:Fstl4
|
UTSW |
11 |
52,891,050 (GRCm39) |
missense |
probably benign |
0.01 |
R8375:Fstl4
|
UTSW |
11 |
53,053,502 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8866:Fstl4
|
UTSW |
11 |
52,963,233 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9103:Fstl4
|
UTSW |
11 |
52,664,696 (GRCm39) |
missense |
probably benign |
0.21 |
R9182:Fstl4
|
UTSW |
11 |
53,024,905 (GRCm39) |
missense |
probably damaging |
0.98 |
R9297:Fstl4
|
UTSW |
11 |
53,024,973 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9390:Fstl4
|
UTSW |
11 |
52,891,102 (GRCm39) |
missense |
probably benign |
|
R9396:Fstl4
|
UTSW |
11 |
52,664,778 (GRCm39) |
missense |
probably benign |
|
R9447:Fstl4
|
UTSW |
11 |
53,077,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R9506:Fstl4
|
UTSW |
11 |
53,024,950 (GRCm39) |
missense |
probably benign |
0.18 |
R9518:Fstl4
|
UTSW |
11 |
53,056,647 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9523:Fstl4
|
UTSW |
11 |
53,075,466 (GRCm39) |
missense |
probably benign |
0.04 |
R9586:Fstl4
|
UTSW |
11 |
53,077,729 (GRCm39) |
missense |
probably benign |
0.02 |
R9594:Fstl4
|
UTSW |
11 |
52,664,694 (GRCm39) |
missense |
probably benign |
|
X0013:Fstl4
|
UTSW |
11 |
53,053,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |