Incidental Mutation 'IGL03107:Fstl5'
ID |
419004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL03107
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 76443618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 321
(C321F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
|
AlphaFold |
Q8BFR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038364
AA Change: C321F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: C321F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159686
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160261
AA Change: C321F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: C321F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
C |
16: 19,702,518 (GRCm39) |
|
noncoding transcript |
Het |
Angpt4 |
A |
G |
2: 151,785,342 (GRCm39) |
M453V |
probably benign |
Het |
Atr |
T |
A |
9: 95,779,783 (GRCm39) |
D1380E |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,278,438 (GRCm39) |
M177K |
probably damaging |
Het |
Cenpk |
T |
A |
13: 104,379,280 (GRCm39) |
I203N |
probably damaging |
Het |
Cerk |
A |
T |
15: 86,027,014 (GRCm39) |
N165K |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,242,869 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
T |
2: 37,681,428 (GRCm39) |
D757V |
probably benign |
Het |
Csnk1a1 |
A |
G |
18: 61,701,376 (GRCm39) |
D91G |
probably damaging |
Het |
Dnajc6 |
G |
T |
4: 101,474,057 (GRCm39) |
W486L |
probably damaging |
Het |
Elmod1 |
C |
T |
9: 53,841,507 (GRCm39) |
|
probably benign |
Het |
Ercc3 |
G |
T |
18: 32,381,360 (GRCm39) |
R392L |
possibly damaging |
Het |
Fam135b |
C |
T |
15: 71,335,410 (GRCm39) |
V595I |
probably benign |
Het |
Fem1al |
T |
A |
11: 29,774,360 (GRCm39) |
I366F |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,775,059 (GRCm39) |
S256T |
probably damaging |
Het |
Gpatch1 |
T |
G |
7: 35,002,742 (GRCm39) |
N256T |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,581 (GRCm39) |
S425R |
probably damaging |
Het |
Igkv4-57-1 |
T |
G |
6: 69,521,574 (GRCm39) |
M43L |
probably benign |
Het |
Itgae |
A |
G |
11: 73,004,427 (GRCm39) |
Q238R |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,588,510 (GRCm39) |
D1042E |
probably benign |
Het |
Lcn8 |
G |
A |
2: 25,545,377 (GRCm39) |
G156D |
probably damaging |
Het |
Loxl4 |
A |
C |
19: 42,593,718 (GRCm39) |
V224G |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,285,177 (GRCm39) |
D3827V |
probably damaging |
Het |
Neb |
C |
A |
2: 52,073,837 (GRCm39) |
R231S |
probably benign |
Het |
Or2g1 |
G |
A |
17: 38,106,679 (GRCm39) |
V115I |
probably benign |
Het |
Or5b105 |
A |
T |
19: 13,080,401 (GRCm39) |
M89K |
probably benign |
Het |
Or6c211 |
A |
G |
10: 129,505,809 (GRCm39) |
M193T |
probably benign |
Het |
Or6d13 |
T |
G |
6: 116,517,900 (GRCm39) |
M162R |
possibly damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,475 (GRCm39) |
M268R |
probably benign |
Het |
Pappa |
T |
G |
4: 65,122,940 (GRCm39) |
S758R |
probably damaging |
Het |
Pced1a |
G |
A |
2: 130,264,755 (GRCm39) |
T61I |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,250,594 (GRCm39) |
D731G |
probably damaging |
Het |
Plxnb1 |
G |
A |
9: 108,934,054 (GRCm39) |
D761N |
probably benign |
Het |
Pmp22 |
T |
C |
11: 63,049,135 (GRCm39) |
V126A |
probably benign |
Het |
Ppp6r2 |
G |
T |
15: 89,152,748 (GRCm39) |
R296S |
probably damaging |
Het |
Prkcq |
A |
C |
2: 11,265,597 (GRCm39) |
H438P |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,774,624 (GRCm39) |
Y2339F |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,765,686 (GRCm39) |
|
probably benign |
Het |
Scp2 |
T |
A |
4: 107,955,312 (GRCm39) |
I144F |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,806,793 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
A |
15: 32,669,554 (GRCm39) |
Y693N |
probably damaging |
Het |
Sin3b |
T |
A |
8: 73,480,213 (GRCm39) |
I905K |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,279,227 (GRCm39) |
M195L |
probably benign |
Het |
Strada |
A |
G |
11: 106,054,863 (GRCm39) |
|
probably benign |
Het |
Stx18 |
G |
A |
5: 38,293,655 (GRCm39) |
V294M |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,983,845 (GRCm39) |
N197K |
probably benign |
Het |
Tdrd9 |
A |
T |
12: 112,009,274 (GRCm39) |
H1060L |
probably damaging |
Het |
Tm4sf5 |
G |
A |
11: 70,396,223 (GRCm39) |
V23M |
possibly damaging |
Het |
Tmem54 |
C |
A |
4: 129,004,705 (GRCm39) |
L187I |
probably damaging |
Het |
Tmprss5 |
A |
G |
9: 49,024,528 (GRCm39) |
H281R |
possibly damaging |
Het |
Trim30c |
A |
G |
7: 104,031,820 (GRCm39) |
Y332H |
possibly damaging |
Het |
Uba6 |
T |
A |
5: 86,275,633 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
A |
1: 66,670,613 (GRCm39) |
P1912Q |
probably damaging |
Het |
|
Other mutations in Fstl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01632:Fstl5
|
APN |
3 |
76,615,135 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01658:Fstl5
|
APN |
3 |
76,389,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01917:Fstl5
|
APN |
3 |
76,615,153 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02073:Fstl5
|
APN |
3 |
76,566,959 (GRCm39) |
splice site |
probably benign |
|
IGL02329:Fstl5
|
APN |
3 |
76,496,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02651:Fstl5
|
APN |
3 |
76,500,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Fstl5
|
APN |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03004:Fstl5
|
APN |
3 |
76,555,738 (GRCm39) |
splice site |
probably benign |
|
IGL03113:Fstl5
|
APN |
3 |
76,337,099 (GRCm39) |
nonsense |
probably null |
|
P0038:Fstl5
|
UTSW |
3 |
76,052,369 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Fstl5
|
UTSW |
3 |
76,567,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
R0078:Fstl5
|
UTSW |
3 |
76,566,952 (GRCm39) |
splice site |
probably benign |
|
R0137:Fstl5
|
UTSW |
3 |
76,614,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Fstl5
|
UTSW |
3 |
76,229,579 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0330:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0427:Fstl5
|
UTSW |
3 |
76,615,034 (GRCm39) |
nonsense |
probably null |
|
R0687:Fstl5
|
UTSW |
3 |
76,615,119 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1642:Fstl5
|
UTSW |
3 |
76,317,929 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1765:Fstl5
|
UTSW |
3 |
76,500,783 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1900:Fstl5
|
UTSW |
3 |
76,615,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R1996:Fstl5
|
UTSW |
3 |
76,615,141 (GRCm39) |
missense |
probably benign |
0.19 |
R2157:Fstl5
|
UTSW |
3 |
76,615,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2228:Fstl5
|
UTSW |
3 |
76,389,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Fstl5
|
UTSW |
3 |
76,337,045 (GRCm39) |
splice site |
probably benign |
|
R4021:Fstl5
|
UTSW |
3 |
76,536,282 (GRCm39) |
missense |
probably benign |
0.00 |
R4086:Fstl5
|
UTSW |
3 |
76,555,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Fstl5
|
UTSW |
3 |
76,500,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Fstl5
|
UTSW |
3 |
76,229,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Fstl5
|
UTSW |
3 |
76,496,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4955:Fstl5
|
UTSW |
3 |
76,131,183 (GRCm39) |
critical splice donor site |
probably null |
|
R4977:Fstl5
|
UTSW |
3 |
76,317,801 (GRCm39) |
nonsense |
probably null |
|
R5166:Fstl5
|
UTSW |
3 |
76,536,267 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5232:Fstl5
|
UTSW |
3 |
76,052,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5313:Fstl5
|
UTSW |
3 |
76,500,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5584:Fstl5
|
UTSW |
3 |
76,229,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5647:Fstl5
|
UTSW |
3 |
76,496,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5842:Fstl5
|
UTSW |
3 |
76,229,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5978:Fstl5
|
UTSW |
3 |
76,052,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Fstl5
|
UTSW |
3 |
76,317,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R6064:Fstl5
|
UTSW |
3 |
76,229,605 (GRCm39) |
missense |
probably benign |
0.13 |
R6327:Fstl5
|
UTSW |
3 |
76,615,108 (GRCm39) |
missense |
probably benign |
0.31 |
R6386:Fstl5
|
UTSW |
3 |
76,229,373 (GRCm39) |
missense |
probably benign |
0.13 |
R6523:Fstl5
|
UTSW |
3 |
76,443,641 (GRCm39) |
missense |
probably benign |
0.00 |
R6852:Fstl5
|
UTSW |
3 |
76,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Fstl5
|
UTSW |
3 |
76,229,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Fstl5
|
UTSW |
3 |
76,229,532 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Fstl5
|
UTSW |
3 |
76,443,600 (GRCm39) |
missense |
probably benign |
0.11 |
R7341:Fstl5
|
UTSW |
3 |
76,389,704 (GRCm39) |
splice site |
probably null |
|
R7495:Fstl5
|
UTSW |
3 |
76,615,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7558:Fstl5
|
UTSW |
3 |
76,337,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7731:Fstl5
|
UTSW |
3 |
76,569,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7787:Fstl5
|
UTSW |
3 |
76,337,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R7852:Fstl5
|
UTSW |
3 |
76,615,275 (GRCm39) |
missense |
probably benign |
0.00 |
R7874:Fstl5
|
UTSW |
3 |
76,569,093 (GRCm39) |
missense |
probably benign |
0.10 |
R7881:Fstl5
|
UTSW |
3 |
76,443,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7986:Fstl5
|
UTSW |
3 |
76,337,097 (GRCm39) |
missense |
probably damaging |
0.98 |
R8039:Fstl5
|
UTSW |
3 |
76,555,725 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8050:Fstl5
|
UTSW |
3 |
76,614,810 (GRCm39) |
missense |
probably benign |
0.00 |
R8844:Fstl5
|
UTSW |
3 |
76,337,154 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8929:Fstl5
|
UTSW |
3 |
76,615,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R9012:Fstl5
|
UTSW |
3 |
76,567,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R9069:Fstl5
|
UTSW |
3 |
76,615,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R9221:Fstl5
|
UTSW |
3 |
76,569,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R9373:Fstl5
|
UTSW |
3 |
76,555,669 (GRCm39) |
nonsense |
probably null |
|
R9427:Fstl5
|
UTSW |
3 |
76,229,583 (GRCm39) |
missense |
|
|
R9490:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9603:Fstl5
|
UTSW |
3 |
76,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fstl5
|
UTSW |
3 |
76,615,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |