Incidental Mutation 'R6236:Fstl4'
ID |
504952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl4
|
Ensembl Gene |
ENSMUSG00000036264 |
Gene Name |
follistatin-like 4 |
Synonyms |
SPIG1, B230374F23Rik |
MMRRC Submission |
044400-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R6236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53077162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 640
(G640S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: G640S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: G640S
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (57/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,989,664 (GRCm39) |
T703A |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,427,127 (GRCm39) |
A49T |
probably benign |
Het |
Acer1 |
T |
A |
17: 57,262,231 (GRCm39) |
I224F |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,367,678 (GRCm39) |
D161G |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,948,887 (GRCm39) |
I111V |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,385 (GRCm39) |
|
probably null |
Het |
Chst14 |
T |
A |
2: 118,757,997 (GRCm39) |
C264S |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,542 (GRCm39) |
T339A |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,045,608 (GRCm39) |
K201R |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,319,030 (GRCm39) |
V1020A |
probably damaging |
Het |
Cts6 |
C |
A |
13: 61,344,192 (GRCm39) |
E287* |
probably null |
Het |
Dbf4 |
T |
C |
5: 8,448,579 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
G |
A |
14: 87,275,004 (GRCm39) |
R140* |
probably null |
Het |
Faah |
T |
C |
4: 115,856,786 (GRCm39) |
I459V |
probably benign |
Het |
Fbxw2 |
A |
T |
2: 34,712,845 (GRCm39) |
L72H |
probably damaging |
Het |
Gabrb1 |
C |
T |
5: 72,265,663 (GRCm39) |
T186M |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,179,548 (GRCm39) |
|
probably null |
Het |
Ifi203 |
A |
G |
1: 173,761,479 (GRCm39) |
V190A |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,641 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
A |
T |
5: 150,876,755 (GRCm39) |
T192S |
probably damaging |
Het |
Klhl3 |
G |
A |
13: 58,232,876 (GRCm39) |
A77V |
probably damaging |
Het |
Klri2 |
A |
G |
6: 129,715,858 (GRCm39) |
F114L |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,363,215 (GRCm39) |
R278* |
probably null |
Het |
Lrp5 |
A |
T |
19: 3,680,483 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
A |
11: 86,219,357 (GRCm39) |
H363L |
probably damaging |
Het |
Metap1d |
T |
G |
2: 71,346,022 (GRCm39) |
F194L |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,956 (GRCm39) |
K458E |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,081,157 (GRCm39) |
T1258A |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,354,064 (GRCm39) |
D1691V |
possibly damaging |
Het |
Nr1i2 |
C |
T |
16: 38,086,300 (GRCm39) |
C55Y |
probably damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,257 (GRCm39) |
S188P |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,409 (GRCm39) |
I50F |
possibly damaging |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,345 (GRCm39) |
Y247H |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,572,826 (GRCm39) |
D755E |
possibly damaging |
Het |
Sez6l |
G |
T |
5: 112,623,110 (GRCm39) |
T147K |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,244,001 (GRCm39) |
F451S |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,022,158 (GRCm39) |
T300I |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,673,613 (GRCm39) |
V1050A |
probably benign |
Het |
Spag1 |
T |
C |
15: 36,211,281 (GRCm39) |
S476P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,166 (GRCm39) |
S1964T |
probably benign |
Het |
Sucla2 |
T |
A |
14: 73,831,190 (GRCm39) |
D434E |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,717 (GRCm39) |
T779I |
probably benign |
Het |
Tlr2 |
T |
A |
3: 83,745,438 (GRCm39) |
E215V |
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,437,281 (GRCm39) |
P227S |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,016,477 (GRCm39) |
S711T |
probably benign |
Het |
Traj32 |
T |
A |
14: 54,423,565 (GRCm39) |
Y2* |
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,525 (GRCm39) |
R387G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,795,441 (GRCm39) |
T651A |
probably benign |
Het |
Vmn1r188 |
T |
C |
13: 22,272,414 (GRCm39) |
S123P |
probably damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,543,918 (GRCm39) |
L66P |
probably damaging |
Het |
Zfp712 |
C |
T |
13: 67,188,685 (GRCm39) |
C614Y |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,797,105 (GRCm39) |
K397R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCTACATGACTGAAGGGTTG -3'
(R):5'- TTGGAGACACTGACGATGAAGC -3'
Sequencing Primer
(F):5'- GGTTGGGAAGCCATCATTTAAAAC -3'
(R):5'- ACGATGAAGCGTCCGTCAG -3'
|
Posted On |
2018-02-28 |