Incidental Mutation 'R5499:Fstl4'
| ID |
430528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
043060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R5499 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52959374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 138
(M138I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: M138I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: M138I
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,137 (GRCm39) |
E74K |
unknown |
Het |
| Adam10 |
A |
T |
9: 70,647,399 (GRCm39) |
H176L |
probably benign |
Het |
| Anapc5 |
C |
T |
5: 122,926,476 (GRCm39) |
E621K |
probably damaging |
Het |
| Asf1a |
T |
A |
10: 53,482,266 (GRCm39) |
L26Q |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,264 (GRCm39) |
L666P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,373,515 (GRCm39) |
R1265H |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,441,888 (GRCm39) |
|
probably null |
Het |
| Ctse |
T |
A |
1: 131,600,251 (GRCm39) |
Y333* |
probably null |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,070,209 (GRCm39) |
V1532D |
possibly damaging |
Het |
| Dnai7 |
A |
T |
6: 145,123,157 (GRCm39) |
W570R |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,238,916 (GRCm39) |
M1I |
probably null |
Het |
| Fbxl4 |
A |
G |
4: 22,386,017 (GRCm39) |
E208G |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 130,929,466 (GRCm39) |
Q447L |
probably benign |
Het |
| H2-Q7 |
T |
A |
17: 35,658,916 (GRCm39) |
C122* |
probably null |
Het |
| Herpud1 |
C |
T |
8: 95,116,041 (GRCm39) |
L69F |
probably damaging |
Het |
| Hnrnpa3 |
A |
G |
2: 75,495,584 (GRCm39) |
Y365C |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,128 (GRCm39) |
V553E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,986,212 (GRCm39) |
Y38H |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,755,100 (GRCm39) |
I132V |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,365,001 (GRCm39) |
S1252P |
possibly damaging |
Het |
| Lct |
T |
A |
1: 128,214,414 (GRCm39) |
D1786V |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,368,873 (GRCm39) |
M572L |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,408,813 (GRCm39) |
V1710I |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,353,000 (GRCm39) |
S250R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,479,615 (GRCm39) |
D1226G |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,069,575 (GRCm39) |
I755T |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,081,677 (GRCm39) |
L1003P |
probably damaging |
Het |
| Or11h23 |
G |
A |
14: 50,948,324 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,109,777 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or52e8b |
A |
T |
7: 104,674,184 (GRCm39) |
M1K |
probably null |
Het |
| Palmd |
T |
A |
3: 116,717,481 (GRCm39) |
M339L |
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,898,491 (GRCm39) |
N307K |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,335,411 (GRCm39) |
I243V |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,646 (GRCm39) |
E12G |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,042 (GRCm39) |
N463K |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,801,748 (GRCm39) |
N39S |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,700 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn8 |
C |
A |
11: 82,895,042 (GRCm39) |
S588I |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,913,202 (GRCm39) |
V77I |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,018,024 (GRCm39) |
K98E |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,322 (GRCm39) |
T931I |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,246,598 (GRCm39) |
L895H |
probably damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,318 (GRCm39) |
E108G |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,137 (GRCm39) |
V942A |
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 |
|
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 |
|
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'- AGATGGACACGTGAACCCTG -3'
(R):5'- CGGAGCTTGTGTGATCCTTC -3'
Sequencing Primer
(F):5'- GAACCCTGCTCTATGATGGTGAC -3'
(R):5'- TGCACGCACGCAGGATATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation