Incidental Mutation 'R9390:Fstl4'
| ID |
710554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R9390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 52891102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 80
(T80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: T80K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: T80K
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,853,096 (GRCm39) |
S13R |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,084,983 (GRCm39) |
D32E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,635,927 (GRCm39) |
D108G |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,557,336 (GRCm39) |
L491P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,839,984 (GRCm39) |
R759* |
probably null |
Het |
| Chmp6 |
C |
T |
11: 119,806,288 (GRCm39) |
T38M |
possibly damaging |
Het |
| Comtd1 |
A |
G |
14: 21,898,867 (GRCm39) |
F25S |
possibly damaging |
Het |
| Dthd1 |
G |
A |
5: 62,975,904 (GRCm39) |
G193R |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,474,330 (GRCm39) |
S362R |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,683,792 (GRCm39) |
D590G |
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,354,180 (GRCm39) |
W293R |
probably damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,116 (GRCm39) |
R218Q |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,610 (GRCm39) |
N755Y |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,783 (GRCm39) |
K109E |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,190,607 (GRCm39) |
V1009A |
probably null |
Het |
| Herc6 |
C |
T |
6: 57,602,955 (GRCm39) |
Q545* |
probably null |
Het |
| Hpd |
T |
A |
5: 123,318,794 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,522 (GRCm39) |
V114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,891,314 (GRCm39) |
T432A |
probably benign |
Het |
| Isoc1 |
G |
A |
18: 58,804,350 (GRCm39) |
R126H |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,533,044 (GRCm39) |
R451L |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,948 (GRCm39) |
C31Y |
probably benign |
Het |
| Mga |
C |
T |
2: 119,794,332 (GRCm39) |
S2672F |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,288 (GRCm39) |
I168V |
probably benign |
Het |
| Mlph |
C |
T |
1: 90,867,088 (GRCm39) |
T370I |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,725 (GRCm39) |
I478F |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,065,157 (GRCm39) |
H6251Q |
probably benign |
Het |
| Nom1 |
C |
T |
5: 29,639,766 (GRCm39) |
R31C |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,642 (GRCm39) |
F989V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,777 (GRCm39) |
|
probably null |
Het |
| Or4c12 |
T |
C |
2: 89,773,569 (GRCm39) |
K297E |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,938 (GRCm39) |
T88A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,057,983 (GRCm39) |
T565A |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,781 (GRCm39) |
V697A |
possibly damaging |
Het |
| Pds5a |
G |
T |
5: 65,823,600 (GRCm39) |
Q64K |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,810 (GRCm39) |
F353L |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,656,937 (GRCm39) |
C221Y |
probably damaging |
Het |
| Qrfp |
A |
G |
2: 31,698,749 (GRCm39) |
V61A |
possibly damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,932 (GRCm39) |
I393M |
probably benign |
Het |
| Sh2d5 |
T |
G |
4: 137,985,481 (GRCm39) |
S310A |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,408 (GRCm39) |
E339G |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,239 (GRCm39) |
E641K |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,197,803 (GRCm39) |
V302A |
possibly damaging |
Het |
| Tdrd7 |
T |
A |
4: 46,005,416 (GRCm39) |
D407E |
probably damaging |
Het |
| Trp53 |
A |
T |
11: 69,478,394 (GRCm39) |
Q101L |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,823,824 (GRCm39) |
N994Y |
probably damaging |
Het |
| Ttc16 |
T |
G |
2: 32,657,195 (GRCm39) |
K577Q |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,462,535 (GRCm39) |
I2V |
probably benign |
Het |
| Vmn2r83 |
G |
T |
10: 79,317,322 (GRCm39) |
E522* |
probably null |
Het |
| Wdr48 |
T |
A |
9: 119,746,245 (GRCm39) |
F450L |
probably benign |
Het |
| Wnt9a |
G |
A |
11: 59,218,592 (GRCm39) |
E100K |
possibly damaging |
Het |
| Zfp729b |
A |
T |
13: 67,739,182 (GRCm39) |
S1028T |
probably benign |
Het |
| Zfp729b |
C |
T |
13: 67,742,014 (GRCm39) |
V84I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAAGGCCTGTGTGCTTC -3'
(R):5'- GACTCATCACAGAACGCTGAAG -3'
Sequencing Primer
(F):5'- TCTACTGTTCCTGACCTAAAAGAGC -3'
(R):5'- GGGCCTCTTCCTACCTTTGAGAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation