Incidental Mutation 'R7586:Fstl4'
ID |
587154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl4
|
Ensembl Gene |
ENSMUSG00000036264 |
Gene Name |
follistatin-like 4 |
Synonyms |
SPIG1, B230374F23Rik |
MMRRC Submission |
045668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R7586 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52963256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 213
(N213D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: N213D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: N213D
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (67/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1a |
C |
T |
9: 65,409,466 (GRCm39) |
|
probably null |
Het |
Ankrd31 |
A |
G |
13: 96,968,562 (GRCm39) |
E733G |
possibly damaging |
Het |
Cars2 |
C |
T |
8: 11,580,321 (GRCm39) |
W239* |
probably null |
Het |
Catsperz |
A |
T |
19: 6,899,929 (GRCm39) |
L192* |
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,099,173 (GRCm39) |
R642W |
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,237,975 (GRCm39) |
|
probably null |
Het |
Cfh |
C |
T |
1: 140,075,459 (GRCm39) |
V260M |
probably damaging |
Het |
Clcn4 |
T |
A |
7: 7,296,958 (GRCm39) |
S227C |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
Col27a1 |
C |
A |
4: 63,143,278 (GRCm39) |
A322D |
probably damaging |
Het |
Egflam |
C |
T |
15: 7,238,082 (GRCm39) |
G934S |
probably damaging |
Het |
Eloa |
A |
G |
4: 135,734,510 (GRCm39) |
V665A |
probably damaging |
Het |
Epg5 |
A |
G |
18: 78,073,275 (GRCm39) |
T2433A |
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,215,011 (GRCm39) |
N848S |
possibly damaging |
Het |
Fbrsl1 |
A |
C |
5: 110,526,020 (GRCm39) |
F61V |
probably damaging |
Het |
Fry |
T |
C |
5: 150,349,683 (GRCm39) |
Y1595H |
probably damaging |
Het |
Gab2 |
C |
T |
7: 96,950,645 (GRCm39) |
P446L |
probably damaging |
Het |
Ganab |
A |
T |
19: 8,888,716 (GRCm39) |
Y552F |
possibly damaging |
Het |
Gfy |
C |
T |
7: 44,826,962 (GRCm39) |
R378Q |
probably damaging |
Het |
Gm3285 |
T |
C |
10: 77,697,875 (GRCm39) |
V8A |
unknown |
Het |
Grip1 |
A |
T |
10: 119,913,043 (GRCm39) |
|
probably null |
Het |
Gtf3c3 |
A |
G |
1: 54,442,752 (GRCm39) |
L764P |
probably damaging |
Het |
Igfbp2 |
A |
T |
1: 72,888,307 (GRCm39) |
M150L |
probably benign |
Het |
Jakmip2 |
C |
T |
18: 43,673,676 (GRCm39) |
R796Q |
probably damaging |
Het |
Jpt1 |
T |
A |
11: 115,389,021 (GRCm39) |
R141W |
probably damaging |
Het |
Junb |
T |
C |
8: 85,704,802 (GRCm39) |
E86G |
probably damaging |
Het |
Klhl41 |
A |
T |
2: 69,505,068 (GRCm39) |
D457V |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,977,389 (GRCm39) |
Y1930C |
probably benign |
Het |
Med13 |
A |
T |
11: 86,161,828 (GRCm39) |
I2167N |
probably damaging |
Het |
Msh3 |
A |
G |
13: 92,485,840 (GRCm39) |
|
probably benign |
Het |
Myo1b |
A |
C |
1: 51,817,483 (GRCm39) |
I593S |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,548,345 (GRCm39) |
T16S |
possibly damaging |
Het |
Ndufaf4 |
C |
T |
4: 24,901,829 (GRCm39) |
L126F |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,256,721 (GRCm39) |
N113I |
possibly damaging |
Het |
Or5d43 |
T |
A |
2: 88,104,794 (GRCm39) |
I200F |
probably damaging |
Het |
Or5g23 |
G |
C |
2: 85,438,528 (GRCm39) |
S242C |
probably damaging |
Het |
Or5p6 |
T |
A |
7: 107,631,128 (GRCm39) |
T141S |
probably benign |
Het |
Pabpc6 |
A |
T |
17: 9,887,611 (GRCm39) |
D313E |
probably damaging |
Het |
Pcdhb2 |
G |
T |
18: 37,428,857 (GRCm39) |
G277* |
probably null |
Het |
Phkb |
T |
G |
8: 86,756,226 (GRCm39) |
V840G |
probably damaging |
Het |
Pip4k2c |
A |
G |
10: 127,034,955 (GRCm39) |
F415S |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,179,779 (GRCm39) |
E1112G |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,797,206 (GRCm39) |
D847G |
probably damaging |
Het |
Qrich2 |
C |
T |
11: 116,346,450 (GRCm39) |
R1458H |
probably benign |
Het |
Rdh11 |
T |
C |
12: 79,231,957 (GRCm39) |
Y199C |
probably damaging |
Het |
Resf1 |
A |
T |
6: 149,228,291 (GRCm39) |
N446Y |
possibly damaging |
Het |
Scamp3 |
A |
G |
3: 89,087,673 (GRCm39) |
Y171C |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,223,743 (GRCm39) |
S312P |
probably damaging |
Het |
Slain2 |
G |
A |
5: 73,123,165 (GRCm39) |
S461N |
probably benign |
Het |
Slc23a1 |
G |
A |
18: 35,758,891 (GRCm39) |
T100I |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,866,194 (GRCm39) |
I1114N |
probably damaging |
Het |
Spinkl |
A |
G |
18: 44,307,656 (GRCm39) |
S2P |
probably damaging |
Het |
Srrt |
T |
C |
5: 137,300,457 (GRCm39) |
N173S |
probably damaging |
Het |
Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,411,013 (GRCm39) |
V697E |
probably damaging |
Het |
Taf6l |
C |
T |
19: 8,761,210 (GRCm39) |
E53K |
probably damaging |
Het |
Tmem81 |
A |
T |
1: 132,435,511 (GRCm39) |
I106F |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,935,382 (GRCm39) |
L2561I |
probably damaging |
Het |
Top3b |
G |
A |
16: 16,709,232 (GRCm39) |
R640H |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,652,085 (GRCm39) |
S1463T |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Tubal3 |
A |
C |
13: 3,978,198 (GRCm39) |
D38A |
possibly damaging |
Het |
Vps13a |
T |
A |
19: 16,624,962 (GRCm39) |
I2766F |
probably benign |
Het |
Wwc1 |
A |
T |
11: 35,735,022 (GRCm39) |
V951E |
possibly damaging |
Het |
Zfp777 |
A |
T |
6: 48,006,152 (GRCm39) |
M414K |
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 |
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'- ACCTGCAAGGCTTTAGGATTG -3'
(R):5'- ACCCAACATTCAGGCTCCTG -3'
Sequencing Primer
(F):5'- GGAGGCTTTGCTATATCCATGAACC -3'
(R):5'- AGGCTCCTGATGCCACATC -3'
|
Posted On |
2019-10-24 |