Incidental Mutation 'R1626:Fstl4'
| ID |
172514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
039663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1626 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 52891117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 85
(S85*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036796
AA Change: S85*
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: S85*
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,571 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Acsl6 |
C |
A |
11: 54,242,872 (GRCm39) |
P628T |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,734,807 (GRCm39) |
D591G |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,516,130 (GRCm39) |
D66G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,496,721 (GRCm39) |
T2283I |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,045,919 (GRCm39) |
D995E |
possibly damaging |
Het |
| Cblc |
G |
T |
7: 19,530,427 (GRCm39) |
A94E |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,509,687 (GRCm39) |
C9Y |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,721,224 (GRCm39) |
K1004R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,057,919 (GRCm39) |
Y156C |
probably damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,202 (GRCm39) |
T59A |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,218 (GRCm39) |
G17D |
probably damaging |
Het |
| Cpeb1 |
A |
G |
7: 81,085,995 (GRCm39) |
V49A |
probably damaging |
Het |
| Cyp4b1 |
G |
T |
4: 115,498,855 (GRCm39) |
P109Q |
probably damaging |
Het |
| Dhrs7b |
T |
A |
11: 60,735,082 (GRCm39) |
F23I |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,976,093 (GRCm39) |
A1319S |
probably benign |
Het |
| Egf |
A |
T |
3: 129,479,864 (GRCm39) |
V553D |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,183,199 (GRCm39) |
D1760G |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,286,745 (GRCm39) |
F178L |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,977 (GRCm39) |
Y225C |
probably damaging |
Het |
| Gm10797 |
A |
T |
10: 67,408,453 (GRCm39) |
|
noncoding transcript |
Het |
| H3c8 |
G |
A |
13: 23,719,721 (GRCm39) |
V36M |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,020,495 (GRCm39) |
I499L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,896,705 (GRCm39) |
M1287K |
probably benign |
Het |
| Inpp5b |
C |
A |
4: 124,677,696 (GRCm39) |
D385E |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,542,435 (GRCm39) |
|
probably null |
Het |
| Ltb4r1 |
A |
G |
14: 56,004,699 (GRCm39) |
M1V |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,365,327 (GRCm39) |
I3145V |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,450 (GRCm39) |
N277S |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,469,016 (GRCm39) |
Y343H |
probably benign |
Het |
| Noxred1 |
T |
C |
12: 87,268,029 (GRCm39) |
*367W |
probably null |
Het |
| Nup58 |
A |
T |
14: 60,480,076 (GRCm39) |
L190* |
probably null |
Het |
| Olfml2a |
G |
T |
2: 38,841,275 (GRCm39) |
K270N |
probably damaging |
Het |
| Or5c1 |
A |
G |
2: 37,222,774 (GRCm39) |
|
probably null |
Het |
| Or7g32 |
A |
G |
9: 19,389,495 (GRCm39) |
L14P |
probably damaging |
Het |
| Phgdh |
G |
T |
3: 98,223,725 (GRCm39) |
Q359K |
probably benign |
Het |
| Plpp5 |
G |
T |
8: 26,212,604 (GRCm39) |
C200F |
possibly damaging |
Het |
| Pole |
A |
C |
5: 110,441,235 (GRCm39) |
I230L |
probably benign |
Het |
| Prtg |
A |
T |
9: 72,752,193 (GRCm39) |
D193V |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,979,619 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,573 (GRCm39) |
Q1221L |
probably benign |
Het |
| Rufy2 |
T |
C |
10: 62,831,151 (GRCm39) |
I204T |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,209,919 (GRCm39) |
S115P |
possibly damaging |
Het |
| Samd13 |
A |
G |
3: 146,368,481 (GRCm39) |
V37A |
probably benign |
Het |
| Secisbp2l |
T |
G |
2: 125,617,606 (GRCm39) |
K24Q |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,222,891 (GRCm39) |
Y198C |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,117,099 (GRCm39) |
|
probably null |
Het |
| Ttc24 |
G |
T |
3: 87,977,366 (GRCm39) |
R127S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,588,888 (GRCm39) |
V21394M |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,982,841 (GRCm39) |
C207F |
probably damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,443 (GRCm39) |
D550V |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,921 (GRCm39) |
I265F |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,858 (GRCm39) |
K62E |
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 |
|
|
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 |
|
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'- GCCCATGAAAGCACAAGTGTTCCC -3'
(R):5'- GGCCTCTTCCTACCTTTGAGAAAGC -3'
Sequencing Primer
(F):5'- CCTATAACTACTACTTGGAGGAACGG -3'
(R):5'- CCTTTGAGAAAGCAGTCCTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation