Incidental Mutation 'R4021:Fstl5'
ID |
313219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
MMRRC Submission |
040955-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R4021 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76536282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 31
(T31A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
[ENSMUST00000162471]
|
AlphaFold |
Q8BFR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038364
AA Change: T468A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: T468A
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 |
probably benign
Transcript: ENSMUST00000160261
AA Change: T468A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: T468A
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 |
probably benign
Transcript: ENSMUST00000162471
AA Change: T31A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008P02Rik |
A |
G |
3: 6,685,148 (GRCm39) |
L102P |
probably benign |
Het |
Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
T |
17: 43,741,605 (GRCm39) |
|
probably benign |
Het |
Atp11a |
A |
G |
8: 12,892,938 (GRCm39) |
K643R |
probably benign |
Het |
Cacna2d2 |
C |
T |
9: 107,391,257 (GRCm39) |
T428M |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,985,593 (GRCm39) |
D331G |
possibly damaging |
Het |
Chmp3 |
T |
C |
6: 71,551,222 (GRCm39) |
|
probably null |
Het |
Csnk2a1 |
C |
T |
2: 152,100,609 (GRCm39) |
T127M |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,892,157 (GRCm39) |
|
probably null |
Het |
Dock9 |
T |
C |
14: 121,864,324 (GRCm39) |
K761E |
possibly damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,511 (GRCm39) |
R238Q |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,839,680 (GRCm39) |
T2188S |
possibly damaging |
Het |
Farsa |
A |
G |
8: 85,595,499 (GRCm39) |
T465A |
probably damaging |
Het |
Fibp |
T |
C |
19: 5,510,762 (GRCm39) |
|
probably null |
Het |
Flywch2 |
G |
A |
17: 23,996,013 (GRCm39) |
T128I |
possibly damaging |
Het |
Foxi2 |
A |
T |
7: 135,012,259 (GRCm39) |
D49V |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,846,435 (GRCm39) |
T158I |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,268,789 (GRCm39) |
R455W |
probably damaging |
Het |
Got2 |
T |
G |
8: 96,604,381 (GRCm39) |
D69A |
probably damaging |
Het |
Gpr63 |
T |
C |
4: 25,008,470 (GRCm39) |
F398S |
possibly damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,556 (GRCm39) |
M186V |
probably benign |
Het |
Haus2 |
A |
T |
2: 120,446,411 (GRCm39) |
Q111L |
probably damaging |
Het |
Hexd |
T |
C |
11: 121,108,987 (GRCm39) |
|
probably null |
Het |
Igf2r |
T |
A |
17: 12,967,638 (GRCm39) |
N27I |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,732,311 (GRCm39) |
|
probably null |
Het |
Krit1 |
T |
A |
5: 3,882,132 (GRCm39) |
I596K |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,058,915 (GRCm39) |
|
probably null |
Het |
Lilra6 |
G |
T |
7: 3,914,417 (GRCm39) |
T276K |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mrgprb1 |
A |
T |
7: 48,096,871 (GRCm39) |
I347N |
possibly damaging |
Het |
Mroh2b |
T |
A |
15: 4,954,582 (GRCm39) |
C682S |
possibly damaging |
Het |
Mtif3 |
T |
A |
5: 146,892,488 (GRCm39) |
R249S |
possibly damaging |
Het |
Mycbp2 |
C |
T |
14: 103,389,593 (GRCm39) |
E3406K |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,764,331 (GRCm39) |
H1315R |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,328,011 (GRCm39) |
F681L |
probably benign |
Het |
Or2ag19 |
T |
A |
7: 106,444,226 (GRCm39) |
M136K |
probably damaging |
Het |
Or5l14 |
T |
A |
2: 87,793,066 (GRCm39) |
T57S |
possibly damaging |
Het |
Pear1 |
T |
C |
3: 87,663,529 (GRCm39) |
N390D |
possibly damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
Sag |
A |
T |
1: 87,749,027 (GRCm39) |
|
probably null |
Het |
Septin4 |
A |
G |
11: 87,458,106 (GRCm39) |
E160G |
probably damaging |
Het |
Slc22a2 |
T |
C |
17: 12,803,376 (GRCm39) |
L70P |
probably damaging |
Het |
Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
Taar7a |
G |
T |
10: 23,869,284 (GRCm39) |
N32K |
probably benign |
Het |
Tbck |
C |
A |
3: 132,432,895 (GRCm39) |
T435K |
probably damaging |
Het |
Tril |
T |
G |
6: 53,796,004 (GRCm39) |
D406A |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,727,782 (GRCm39) |
D324N |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,801,631 (GRCm39) |
V2349A |
possibly damaging |
Het |
Wdr6 |
A |
G |
9: 108,452,405 (GRCm39) |
W493R |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,058,875 (GRCm39) |
V323I |
probably benign |
Het |
Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
Zic4 |
A |
G |
9: 91,261,089 (GRCm39) |
T108A |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,231,278 (GRCm39) |
D745G |
possibly 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 |
|
IGL03107:Fstl5
|
APN |
3 |
76,443,618 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTCTCATGTAAGGGAGGTCC -3'
(R):5'- AAAGCTTCATGAACTCATAGACAGC -3'
Sequencing Primer
(F):5'- GAGGTCCCTCTCATTTGTTTTATTAG -3'
(R):5'- TGAACTCATAGACAGCATTATGAAC -3'
|
Posted On |
2015-04-30 |