Incidental Mutation 'R5129:Fstl4'
| ID |
394915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
042717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R5129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53077266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 674
(D674E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036796
AA Change: D674E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: D674E
| 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 |
0.3187 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,260,786 (GRCm39) |
|
noncoding transcript |
Het |
| Abcf1 |
C |
T |
17: 36,271,687 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,085,397 (GRCm39) |
D209V |
probably benign |
Het |
| Aldh3b1 |
A |
G |
19: 3,965,336 (GRCm39) |
F392L |
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,103,522 (GRCm39) |
D999E |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,066,468 (GRCm39) |
V94A |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,821,954 (GRCm39) |
D271G |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,576 (GRCm39) |
E1906G |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,183,624 (GRCm39) |
Y225H |
probably damaging |
Het |
| Dvl3 |
T |
A |
16: 20,336,090 (GRCm39) |
M49K |
possibly damaging |
Het |
| Eef1b2 |
T |
G |
1: 63,218,739 (GRCm39) |
S175A |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,351,201 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Fam43b |
A |
T |
4: 138,122,783 (GRCm39) |
L179* |
probably null |
Het |
| Fbxw28 |
A |
G |
9: 109,155,671 (GRCm39) |
L314P |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,379,942 (GRCm39) |
V92A |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,588 (GRCm39) |
Y257N |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
A |
5: 121,481,573 (GRCm39) |
V3041M |
possibly damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,608 (GRCm39) |
K1069E |
probably damaging |
Het |
| Hlf |
T |
C |
11: 90,281,078 (GRCm39) |
D38G |
probably benign |
Het |
| Hsd3b7 |
C |
A |
7: 127,400,306 (GRCm39) |
C18* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,381,983 (GRCm39) |
C676R |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,751 (GRCm39) |
Y1211C |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,856,015 (GRCm39) |
V599L |
possibly damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,440,961 (GRCm39) |
L1097P |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,766,145 (GRCm39) |
D87E |
probably benign |
Het |
| Or10d4c |
T |
A |
9: 39,558,790 (GRCm39) |
I256N |
probably benign |
Het |
| Or14j2 |
T |
C |
17: 37,886,071 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,479,992 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,379,154 (GRCm39) |
E276G |
unknown |
Het |
| Semp2l1 |
C |
A |
1: 32,584,560 (GRCm39) |
R450M |
probably damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,561 (GRCm39) |
R450W |
probably damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,713 (GRCm39) |
E78G |
probably damaging |
Het |
| Tlr3 |
A |
T |
8: 45,856,018 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmem72 |
A |
G |
6: 116,678,974 (GRCm39) |
L34P |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,845,296 (GRCm39) |
R213G |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,764,844 (GRCm39) |
V7D |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,052,621 (GRCm39) |
I372V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,158,592 (GRCm39) |
T484A |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,838,359 (GRCm39) |
D2395G |
probably damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,378 (GRCm39) |
I273N |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,420 (GRCm39) |
E385G |
probably benign |
Het |
| Zfp74 |
C |
T |
7: 29,631,880 (GRCm39) |
M121I |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,359 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
A |
T |
13: 67,591,100 (GRCm39) |
C195S |
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 |
|
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'- GCTGTCCACAAAGTTGACCTG -3'
(R):5'- CATAGGCGTTGTACTGACTACC -3'
Sequencing Primer
(F):5'- CACAAAGTTGACCTGGAGACTCTG -3'
(R):5'- TGCTGGAATGCCAAGTCG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation