Incidental Mutation 'R6125:Fstl4'
| ID |
487354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl4
|
| Ensembl Gene |
ENSMUSG00000036264 |
| Gene Name |
follistatin-like 4 |
| Synonyms |
SPIG1, B230374F23Rik |
| MMRRC Submission |
044272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R6125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
52655461-53079365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53077130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 629
(M629T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036796]
|
| AlphaFold |
Q5STE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036796
AA Change: M629T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: M629T
| 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 |
0.0636 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
97% (65/67) |
| 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 |
|---|
| Arhgef11 |
T |
C |
3: 87,636,909 (GRCm39) |
F1023S |
probably damaging |
Het |
| Atp1a1 |
G |
A |
3: 101,498,023 (GRCm39) |
R255C |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,374,700 (GRCm39) |
I383V |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,668 (GRCm39) |
P1215L |
probably benign |
Het |
| Calm5 |
A |
T |
13: 3,904,491 (GRCm39) |
K62* |
probably null |
Het |
| Chd8 |
T |
A |
14: 52,444,491 (GRCm39) |
H398L |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,217 (GRCm39) |
T88A |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,193 (GRCm39) |
H146L |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dusp29 |
C |
A |
14: 21,736,758 (GRCm39) |
V115L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,168,706 (GRCm39) |
N369S |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,888,907 (GRCm39) |
V422G |
probably damaging |
Het |
| Galnt18 |
A |
G |
7: 111,084,400 (GRCm39) |
Y507H |
probably damaging |
Het |
| Gar1 |
C |
A |
3: 129,624,399 (GRCm39) |
|
probably benign |
Het |
| Gm19402 |
T |
C |
10: 77,526,507 (GRCm39) |
T29A |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,034 (GRCm39) |
F92L |
unknown |
Het |
| H1f0 |
T |
A |
15: 78,913,070 (GRCm39) |
I50N |
probably damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,439 (GRCm39) |
Y186C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,159 (GRCm39) |
N357S |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
C |
10: 57,388,101 (GRCm39) |
V415A |
probably benign |
Het |
| Ins2 |
C |
A |
7: 142,233,430 (GRCm39) |
|
probably null |
Het |
| Kel |
A |
T |
6: 41,667,720 (GRCm39) |
F89L |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,695,146 (GRCm39) |
N200S |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,386 (GRCm39) |
D1013G |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,027,180 (GRCm39) |
G397C |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,982,797 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,043,125 (GRCm39) |
D660G |
possibly damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,248 (GRCm39) |
T298I |
possibly damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,215,764 (GRCm39) |
C1487S |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,576 (GRCm39) |
S47P |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,481,735 (GRCm39) |
S217P |
probably damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,405,590 (GRCm39) |
I54T |
probably benign |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,176 (GRCm39) |
E240G |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,354,772 (GRCm39) |
T644M |
possibly damaging |
Het |
| Rgs2 |
T |
C |
1: 143,879,763 (GRCm39) |
K32E |
probably damaging |
Het |
| Scyl3 |
A |
T |
1: 163,778,145 (GRCm39) |
M428L |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,198,530 (GRCm39) |
D325G |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,741,002 (GRCm39) |
T548K |
probably damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,036,457 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,461,560 (GRCm39) |
|
probably null |
Het |
| Stk39 |
C |
A |
2: 68,222,468 (GRCm39) |
G199C |
probably damaging |
Het |
| Tbx1 |
A |
G |
16: 18,402,216 (GRCm39) |
F263L |
probably damaging |
Het |
| Tcf21 |
G |
T |
10: 22,695,665 (GRCm39) |
N46K |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,034,632 (GRCm39) |
M1357K |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,521 (GRCm39) |
L625P |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,847,387 (GRCm39) |
S1237L |
possibly damaging |
Het |
| Trdv5 |
T |
C |
14: 54,386,298 (GRCm39) |
K56E |
possibly damaging |
Het |
| Triml2 |
G |
A |
8: 43,640,659 (GRCm39) |
V172I |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,722,842 (GRCm39) |
D409Y |
probably damaging |
Het |
| Ube2o |
C |
T |
11: 116,432,204 (GRCm39) |
A921T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,435,576 (GRCm39) |
D404G |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,203 (GRCm39) |
T22A |
probably benign |
Het |
| Ugp2 |
A |
T |
11: 21,279,815 (GRCm39) |
F327L |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,521,172 (GRCm39) |
S910P |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,836 (GRCm39) |
Y842H |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,463,871 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,429,208 (GRCm39) |
*646R |
probably null |
Het |
| Zranb3 |
T |
A |
1: 127,887,482 (GRCm39) |
N982Y |
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 |
|
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 |
|
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'- AGTGACTTCTGGACGCATTC -3'
(R):5'- GATATCACTGTTGGGGCCTAG -3'
Sequencing Primer
(F):5'- GCATTCCCTGCCAAATGATAG -3'
(R):5'- TAGCACCGAGTCTGTGACACTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation