Incidental Mutation 'IGL02386:Fstl4'
ID |
291536 |
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 # |
IGL02386
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52664698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 9
(H9Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: H9Q
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: H9Q
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555F03Rik |
G |
A |
8: 49,953,472 (GRCm39) |
|
noncoding transcript |
Het |
Abhd17b |
T |
C |
19: 21,658,263 (GRCm39) |
Y167H |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,123,086 (GRCm39) |
D167G |
probably damaging |
Het |
Bpnt1 |
G |
T |
1: 185,070,372 (GRCm39) |
K21N |
probably damaging |
Het |
Cables2 |
A |
G |
2: 179,903,431 (GRCm39) |
V251A |
probably benign |
Het |
Cyp2b13 |
T |
C |
7: 25,785,438 (GRCm39) |
L269P |
probably damaging |
Het |
Dhodh |
A |
G |
8: 110,321,396 (GRCm39) |
I330T |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,340,527 (GRCm39) |
D2311E |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,074,428 (GRCm39) |
D128G |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,410,056 (GRCm39) |
I508N |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,742,580 (GRCm39) |
|
probably null |
Het |
Glra3 |
A |
T |
8: 56,542,063 (GRCm39) |
M269L |
probably benign |
Het |
Gpatch8 |
C |
A |
11: 102,398,983 (GRCm39) |
R83L |
unknown |
Het |
Gss |
A |
G |
2: 155,415,090 (GRCm39) |
V205A |
probably benign |
Het |
Ifi30 |
A |
G |
8: 71,217,405 (GRCm39) |
|
probably benign |
Het |
Itch |
T |
A |
2: 155,044,181 (GRCm39) |
Y495* |
probably null |
Het |
Lilrb4a |
C |
T |
10: 51,367,322 (GRCm39) |
Q22* |
probably null |
Het |
Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
Myh8 |
T |
A |
11: 67,185,266 (GRCm39) |
I839N |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,724,319 (GRCm39) |
G1122E |
probably damaging |
Het |
Ntan1 |
T |
A |
16: 13,653,063 (GRCm39) |
M273K |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,656,739 (GRCm39) |
K1548R |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,469,161 (GRCm39) |
V1260A |
probably damaging |
Het |
Or4b12 |
T |
A |
2: 90,096,295 (GRCm39) |
I160F |
probably damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,888 (GRCm39) |
V245A |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,172,636 (GRCm39) |
S669G |
possibly damaging |
Het |
Ppargc1b |
T |
C |
18: 61,456,222 (GRCm39) |
D79G |
probably damaging |
Het |
Rnf103 |
A |
G |
6: 71,486,202 (GRCm39) |
T278A |
probably benign |
Het |
Slc22a4 |
C |
A |
11: 53,879,598 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,494,386 (GRCm39) |
M833K |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Susd2 |
A |
T |
10: 75,475,929 (GRCm39) |
Y357N |
probably damaging |
Het |
Syne4 |
C |
A |
7: 30,015,659 (GRCm39) |
S91Y |
possibly damaging |
Het |
Tgfbrap1 |
C |
A |
1: 43,114,981 (GRCm39) |
G40C |
probably damaging |
Het |
Tial1 |
A |
G |
7: 128,050,069 (GRCm39) |
S94P |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,301,941 (GRCm39) |
T117A |
possibly damaging |
Het |
Usp48 |
A |
C |
4: 137,331,834 (GRCm39) |
R73S |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,297,352 (GRCm39) |
D685E |
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 |
IGL01121:Fstl4
|
APN |
11 |
52,705,464 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
2015-04-16 |