Incidental Mutation 'R7758:Fstl4'
ID |
597683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl4
|
Ensembl Gene |
ENSMUSG00000036264 |
Gene Name |
follistatin-like 4 |
Synonyms |
SPIG1, B230374F23Rik |
MMRRC Submission |
045814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R7758 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 53059123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 527
(D527E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036796
AA Change: D527E
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: D527E
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 |
|
Meta Mutation Damage Score |
0.1962 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (48/50) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,921,816 (GRCm39) |
D1124G |
probably damaging |
Het |
Actr10 |
A |
G |
12: 70,989,100 (GRCm39) |
H73R |
probably damaging |
Het |
Ak9 |
G |
T |
10: 41,223,128 (GRCm39) |
A424S |
|
Het |
Alkbh5 |
G |
A |
11: 60,429,903 (GRCm39) |
V219M |
probably damaging |
Het |
Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
Bfar |
T |
C |
16: 13,519,985 (GRCm39) |
F406S |
possibly damaging |
Het |
Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
Colec11 |
A |
C |
12: 28,645,241 (GRCm39) |
|
probably null |
Het |
Crh |
T |
A |
3: 19,748,453 (GRCm39) |
Y63F |
probably damaging |
Het |
Dmbt1 |
C |
T |
7: 130,722,926 (GRCm39) |
H1946Y |
unknown |
Het |
Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
Gm17019 |
A |
G |
5: 15,079,300 (GRCm39) |
*256Q |
probably null |
Het |
Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
H3c13 |
A |
G |
3: 96,176,203 (GRCm39) |
K65R |
possibly damaging |
Het |
Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
Klhl35 |
C |
T |
7: 99,122,425 (GRCm39) |
T87I |
unknown |
Het |
Kmt2e |
A |
G |
5: 23,701,068 (GRCm39) |
T761A |
possibly damaging |
Het |
Lca5l |
C |
T |
16: 95,980,037 (GRCm39) |
R36H |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
Or4c120 |
T |
A |
2: 89,001,485 (GRCm39) |
I24L |
probably benign |
Het |
Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
Plekhh1 |
T |
C |
12: 79,117,578 (GRCm39) |
I858T |
probably benign |
Het |
Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
Prss43 |
G |
A |
9: 110,658,459 (GRCm39) |
G253E |
possibly damaging |
Het |
Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,805,251 (GRCm39) |
|
probably null |
Het |
Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
Sphk1 |
A |
G |
11: 116,427,063 (GRCm39) |
R340G |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
Taok3 |
A |
G |
5: 117,388,972 (GRCm39) |
E459G |
probably damaging |
Het |
Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
Unc13b |
AGCCAG |
AGCCAGCGCCAG |
4: 43,177,344 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,658,989 (GRCm39) |
T68A |
not run |
Het |
Wdr59 |
T |
A |
8: 112,207,117 (GRCm39) |
I534F |
|
Het |
Ylpm1 |
A |
G |
12: 85,061,796 (GRCm39) |
I566V |
unknown |
Het |
Zbtb4 |
A |
G |
11: 69,669,368 (GRCm39) |
E697G |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,331,428 (GRCm39) |
K645R |
unknown |
Het |
Zfp704 |
C |
T |
3: 9,509,282 (GRCm39) |
V388M |
possibly damaging |
Het |
Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
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 |
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'- GCCCAGGGATGTTTGAGTAG -3'
(R):5'- AGAAGTCTCCTTTGGCTAAGC -3'
Sequencing Primer
(F):5'- TTTGAGTAGGGTTGAAGAACAGATAC -3'
(R):5'- TCACTTTGAAGACCAGGCTG -3'
|
Posted On |
2019-11-26 |