Incidental Mutation 'R9447:Fstl4'
ID |
714009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl4
|
Ensembl Gene |
ENSMUSG00000036264 |
Gene Name |
follistatin-like 4 |
Synonyms |
SPIG1, B230374F23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R9447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 53077166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 641
(C641F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
AlphaFold |
Q5STE3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036796
AA Change: C641F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042007 Gene: ENSMUSG00000036264 AA Change: C641F
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: 99.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,651,051 (GRCm39) |
Y58N |
probably damaging |
Het |
Ago4 |
G |
A |
4: 126,402,151 (GRCm39) |
P572S |
probably benign |
Het |
Akr1c19 |
A |
G |
13: 4,296,838 (GRCm39) |
I295V |
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,323,297 (GRCm39) |
I1007K |
probably damaging |
Het |
Cd47 |
C |
A |
16: 49,715,822 (GRCm39) |
T196K |
|
Het |
Cdrt4 |
T |
G |
11: 62,883,418 (GRCm39) |
L40R |
probably damaging |
Het |
Cox16 |
A |
T |
12: 81,406,109 (GRCm39) |
C72S |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Daxx |
A |
T |
17: 34,132,247 (GRCm39) |
D497V |
unknown |
Het |
Ddt |
A |
G |
10: 75,608,671 (GRCm39) |
V62A |
possibly damaging |
Het |
Dhx57 |
A |
G |
17: 80,549,523 (GRCm39) |
V1294A |
probably damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,163,743 (GRCm39) |
T667A |
probably damaging |
Het |
Dnase2a |
A |
C |
8: 85,635,786 (GRCm39) |
S90R |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,700,302 (GRCm39) |
V276A |
|
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Enpp6 |
A |
T |
8: 47,483,600 (GRCm39) |
R131W |
probably damaging |
Het |
Epm2a |
C |
T |
10: 11,324,432 (GRCm39) |
H174Y |
possibly damaging |
Het |
Fcho1 |
A |
G |
8: 72,169,913 (GRCm39) |
L70P |
probably damaging |
Het |
Fhip1b |
G |
T |
7: 105,034,155 (GRCm39) |
T492K |
probably benign |
Het |
Ganab |
C |
T |
19: 8,886,894 (GRCm39) |
H327Y |
probably damaging |
Het |
Gkn1 |
A |
G |
6: 87,323,322 (GRCm39) |
Y164H |
probably benign |
Het |
Gm57858 |
A |
G |
3: 36,074,195 (GRCm39) |
V318A |
possibly damaging |
Het |
Hpf1 |
A |
G |
8: 61,348,618 (GRCm39) |
D111G |
probably damaging |
Het |
Hs3st2 |
C |
T |
7: 120,992,289 (GRCm39) |
R113W |
probably damaging |
Het |
Ighm |
A |
T |
12: 113,384,794 (GRCm39) |
L353Q |
|
Het |
Krbox5 |
A |
G |
13: 67,981,953 (GRCm39) |
E55G |
probably damaging |
Het |
Ksr1 |
T |
C |
11: 78,909,159 (GRCm39) |
D782G |
unknown |
Het |
Lpin2 |
A |
G |
17: 71,539,087 (GRCm39) |
K392E |
unknown |
Het |
Lrrc4 |
A |
G |
6: 28,830,650 (GRCm39) |
S322P |
probably benign |
Het |
Man2a1 |
T |
C |
17: 64,966,001 (GRCm39) |
V313A |
possibly damaging |
Het |
Mctp1 |
A |
G |
13: 76,727,904 (GRCm39) |
S9G |
probably benign |
Het |
Morn5 |
A |
T |
2: 35,969,525 (GRCm39) |
|
probably null |
Het |
Mroh2b |
C |
T |
15: 4,960,823 (GRCm39) |
A795V |
probably damaging |
Het |
Ncf4 |
G |
T |
15: 78,146,499 (GRCm39) |
A310S |
probably benign |
Het |
Nedd4 |
T |
C |
9: 72,577,381 (GRCm39) |
Y69H |
probably benign |
Het |
Nras |
T |
C |
3: 102,967,673 (GRCm39) |
F90L |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 89,221,678 (GRCm39) |
F113L |
probably benign |
Het |
Ntsr1 |
C |
T |
2: 180,180,540 (GRCm39) |
T282I |
probably benign |
Het |
Or1e1d-ps1 |
G |
T |
11: 73,819,617 (GRCm39) |
C189F |
probably benign |
Het |
Osbpl3 |
T |
A |
6: 50,321,857 (GRCm39) |
K310* |
probably null |
Het |
Pcca |
T |
C |
14: 122,854,290 (GRCm39) |
V194A |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,525,192 (GRCm39) |
Y900C |
probably damaging |
Het |
Prss22 |
T |
C |
17: 24,212,837 (GRCm39) |
D300G |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,764,119 (GRCm39) |
Y451N |
probably damaging |
Het |
Rnf181 |
G |
T |
6: 72,337,570 (GRCm39) |
T97K |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,084,162 (GRCm39) |
S114P |
probably benign |
Het |
Siae |
C |
A |
9: 37,557,743 (GRCm39) |
Q517K |
probably benign |
Het |
Smurf2 |
A |
T |
11: 106,715,548 (GRCm39) |
V653D |
probably damaging |
Het |
Sqor |
C |
A |
2: 122,649,520 (GRCm39) |
T359K |
possibly damaging |
Het |
Taf6 |
A |
T |
5: 138,176,970 (GRCm39) |
*637R |
probably null |
Het |
Tas2r109 |
A |
C |
6: 132,957,270 (GRCm39) |
M220R |
probably damaging |
Het |
Tlr2 |
T |
A |
3: 83,748,445 (GRCm39) |
|
probably null |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem8b |
T |
G |
4: 43,685,766 (GRCm39) |
L179R |
probably damaging |
Het |
Tnfrsf10b |
T |
A |
14: 70,013,608 (GRCm39) |
H179Q |
probably damaging |
Het |
Trip11 |
T |
A |
12: 101,850,148 (GRCm39) |
K1305N |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,582,862 (GRCm39) |
W22677L |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,190,655 (GRCm39) |
V183A |
probably damaging |
Het |
Ubqln4 |
T |
A |
3: 88,464,124 (GRCm39) |
D208E |
probably benign |
Het |
Ugt2a3 |
T |
A |
5: 87,473,330 (GRCm39) |
N529I |
probably benign |
Het |
Vmn1r125 |
A |
G |
7: 21,006,627 (GRCm39) |
N175S |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,338,950 (GRCm39) |
I397K |
probably damaging |
Het |
Zfp821 |
G |
A |
8: 110,450,816 (GRCm39) |
V270I |
probably damaging |
Het |
Zfp935 |
A |
G |
13: 62,602,842 (GRCm39) |
V99A |
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 |
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 |
|
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'- GCTACATGACTGAAGGGTTGGG -3'
(R):5'- TTGGAGACACTGACGATGAAGC -3'
Sequencing Primer
(F):5'- GGTTGGGAAGCCATCATTTAAAAC -3'
(R):5'- ACGATGAAGCGTCCGTCAG -3'
|
Posted On |
2022-06-15 |