Incidental Mutation 'R9594:Fstl4'
| ID |
723176 |
| 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 # |
R9594 (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 T
at 52664694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 8
(P8L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: P8L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: P8L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aida |
T |
C |
1: 183,095,012 (GRCm39) |
V151A |
possibly damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Apobec3 |
T |
A |
15: 79,790,653 (GRCm39) |
W332R |
|
Het |
| Atf6 |
A |
G |
1: 170,668,402 (GRCm39) |
V166A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,118,858 (GRCm39) |
|
probably null |
Het |
| Brd3 |
G |
T |
2: 27,340,373 (GRCm39) |
P612Q |
probably damaging |
Het |
| Btg1 |
T |
A |
10: 96,453,263 (GRCm39) |
L26H |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,030,560 (GRCm39) |
D220G |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,183 (GRCm39) |
D157G |
probably benign |
Het |
| Cdhr18 |
A |
T |
14: 13,814,959 (GRCm38) |
L858Q |
unknown |
Het |
| Cimip2b |
T |
G |
4: 43,427,329 (GRCm39) |
T332P |
unknown |
Het |
| Dnah10 |
T |
C |
5: 124,907,107 (GRCm39) |
L4269P |
probably damaging |
Het |
| Dync1li2 |
C |
A |
8: 105,154,752 (GRCm39) |
K285N |
possibly damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,118,740 (GRCm39) |
Q198K |
possibly damaging |
Het |
| Foxn3 |
C |
A |
12: 99,359,294 (GRCm39) |
|
probably benign |
Het |
| G6pc1 |
T |
C |
11: 101,258,660 (GRCm39) |
I13T |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,362,470 (GRCm39) |
I356V |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,773 (GRCm39) |
C164S |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,388,848 (GRCm39) |
M308K |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,225,727 (GRCm39) |
K2143E |
probably benign |
Het |
| Grm2 |
G |
A |
9: 106,524,408 (GRCm39) |
T298I |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,326,455 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,560,559 (GRCm39) |
R297C |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,056,757 (GRCm39) |
T711A |
possibly damaging |
Het |
| Ide |
T |
C |
19: 37,264,514 (GRCm39) |
D672G |
|
Het |
| Impg1 |
A |
G |
9: 80,288,923 (GRCm39) |
F378S |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,098,128 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,156,136 (GRCm39) |
D1270G |
probably null |
Het |
| Mbnl1 |
A |
T |
3: 60,520,859 (GRCm39) |
H149L |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,978,592 (GRCm39) |
Y675H |
probably benign |
Het |
| Mrfap1 |
C |
A |
5: 36,953,807 (GRCm39) |
R44L |
probably damaging |
Het |
| Nherf2 |
G |
T |
17: 24,868,922 (GRCm39) |
T68K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,041,889 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,883,785 (GRCm39) |
D62G |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,952 (GRCm39) |
I277V |
probably benign |
Het |
| Or2i1 |
C |
G |
17: 37,508,308 (GRCm39) |
A109P |
possibly damaging |
Het |
| Or5g27 |
C |
T |
2: 85,409,882 (GRCm39) |
Q100* |
probably null |
Het |
| Or5l13 |
T |
C |
2: 87,780,544 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5p59 |
T |
G |
7: 107,702,663 (GRCm39) |
I49S |
probably damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,354 (GRCm39) |
I193F |
probably benign |
Het |
| Pcbd2 |
A |
G |
13: 55,880,849 (GRCm39) |
Y68C |
probably benign |
Het |
| Phf3 |
G |
C |
1: 30,869,003 (GRCm39) |
Q682E |
probably benign |
Het |
| Ptpn6 |
C |
A |
6: 124,704,728 (GRCm39) |
R294L |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,025,026 (GRCm39) |
V1754D |
probably damaging |
Het |
| Rab36 |
T |
A |
10: 74,887,873 (GRCm39) |
I248K |
probably damaging |
Het |
| Rabac1 |
A |
G |
7: 24,671,579 (GRCm39) |
Y114H |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,474,701 (GRCm39) |
V147A |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,144 (GRCm39) |
V217D |
probably damaging |
Het |
| Scarf2 |
G |
T |
16: 17,620,473 (GRCm39) |
C101F |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,089,100 (GRCm39) |
V550A |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,560,235 (GRCm39) |
N289S |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,091 (GRCm39) |
E207G |
|
Het |
| Stac3 |
T |
A |
10: 127,338,654 (GRCm39) |
M1K |
probably null |
Het |
| Stk31 |
C |
T |
6: 49,424,221 (GRCm39) |
T845I |
possibly damaging |
Het |
| Sufu |
T |
C |
19: 46,385,674 (GRCm39) |
Y45H |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,607,109 (GRCm39) |
C1834* |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,686,021 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,265 (GRCm39) |
H13R |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,773 (GRCm39) |
F347L |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,664,238 (GRCm39) |
Q516K |
probably 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 |
|
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 |
|
X0013:Fstl4
|
UTSW |
11 |
53,053,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGAATGCATGGGTGTAC -3'
(R):5'- TTAGACAATCGGACACTGTAACAC -3'
Sequencing Primer
(F):5'- GCTGACCAATTAATTAGGCAGTGCTG -3'
(R):5'- CAGAAAAGCAGTCTGTATGAAGTGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation