Incidental Mutation 'R8043:Fstl4'
| ID |
618638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
067480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R8043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52891050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 63
(S63P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: S63P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: S63P
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (50/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,211,665 (GRCm39) |
Y628C |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,482,901 (GRCm39) |
C369Y |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,005,989 (GRCm39) |
Y432H |
probably damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,355,663 (GRCm39) |
V215M |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,596,808 (GRCm39) |
M516I |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,573,804 (GRCm39) |
N231T |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,234,054 (GRCm39) |
G338D |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,576,219 (GRCm39) |
V2047E |
probably damaging |
Het |
| Coro1c |
C |
T |
5: 114,003,820 (GRCm39) |
|
silent |
Het |
| Cplx4 |
A |
T |
18: 66,090,190 (GRCm39) |
|
probably null |
Het |
| Csf1r |
G |
C |
18: 61,257,947 (GRCm39) |
G639R |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,513 (GRCm39) |
V446A |
probably benign |
Het |
| Esam |
T |
C |
9: 37,448,317 (GRCm39) |
V252A |
probably damaging |
Het |
| F13b |
T |
G |
1: 139,450,186 (GRCm39) |
M616R |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,975,694 (GRCm39) |
Y234C |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,293,818 (GRCm39) |
E287K |
probably benign |
Het |
| Glra1 |
G |
A |
11: 55,424,688 (GRCm39) |
P174L |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,746,731 (GRCm39) |
C24S |
possibly damaging |
Het |
| Gpr3 |
G |
A |
4: 132,938,271 (GRCm39) |
R134C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,761,790 (GRCm39) |
E530G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,444 (GRCm39) |
R116C |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,549,644 (GRCm39) |
Q361L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,769,397 (GRCm39) |
S532P |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,846 (GRCm39) |
I155N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,881 (GRCm39) |
L107Q |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,730,513 (GRCm39) |
V148I |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,158,504 (GRCm39) |
V264L |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,035,080 (GRCm39) |
E360G |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,367 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,080 (GRCm39) |
Y41* |
probably null |
Het |
| Or5b96 |
A |
C |
19: 12,867,095 (GRCm39) |
V282G |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,579 (GRCm39) |
D70G |
probably benign |
Het |
| Pcsk2 |
A |
T |
2: 143,655,450 (GRCm39) |
K545* |
probably null |
Het |
| Phf11b |
T |
C |
14: 59,568,722 (GRCm39) |
S64G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pygo2 |
T |
C |
3: 89,340,235 (GRCm39) |
L211P |
possibly damaging |
Het |
| Rbbp6 |
C |
T |
7: 122,584,468 (GRCm39) |
T161I |
probably damaging |
Het |
| Rcsd1 |
A |
T |
1: 165,482,911 (GRCm39) |
I390N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,702 (GRCm39) |
V141A |
probably benign |
Het |
| Rufy3 |
C |
A |
5: 88,790,851 (GRCm39) |
D517E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,009 (GRCm39) |
L2417Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,705,422 (GRCm39) |
E831K |
probably damaging |
Het |
| Sipa1l1 |
A |
C |
12: 82,496,700 (GRCm39) |
Q1744P |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,240 (GRCm39) |
|
probably null |
Het |
| Slain1 |
C |
A |
14: 103,925,782 (GRCm39) |
Q377K |
possibly damaging |
Het |
| Slc30a6 |
T |
G |
17: 74,730,018 (GRCm39) |
S303A |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,752,734 (GRCm39) |
L843Q |
possibly damaging |
Het |
| Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,218 (GRCm39) |
S46T |
possibly damaging |
Het |
| Ybx3 |
T |
C |
6: 131,361,469 (GRCm39) |
N100S |
probably benign |
Het |
| Zfp747 |
A |
G |
7: 126,973,225 (GRCm39) |
L315P |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTACTTGGAGGAACGGGGAC -3'
(R):5'- TGACAATTCGCTTGCCCAGC -3'
Sequencing Primer
(F):5'- GAACGGGGACTCCATGTAC -3'
(R):5'- AAGCTCACAGTGGTTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation