Incidental Mutation 'IGL02967:Fstl5'
| ID |
365657 |
| 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: 0.088)
|
| Stock # |
IGL02967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76229498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 100
(V100M)
|
| 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: V100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: V100M
| 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: V100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: V100M
| 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 |
|
| Meta Mutation Damage Score |
0.4969 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,291 (GRCm39) |
T3455A |
probably damaging |
Het |
| Abca8a |
G |
A |
11: 109,941,762 (GRCm39) |
P1169L |
probably damaging |
Het |
| Ablim3 |
T |
A |
18: 61,959,574 (GRCm39) |
K272* |
probably null |
Het |
| Abtb3 |
A |
G |
10: 85,469,646 (GRCm39) |
T856A |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,210 (GRCm39) |
V574A |
possibly damaging |
Het |
| Acot4 |
A |
T |
12: 84,090,235 (GRCm39) |
I311L |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,026,164 (GRCm39) |
A1273V |
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,342,479 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,366 (GRCm39) |
K4112* |
probably null |
Het |
| Aspdh |
A |
G |
7: 44,114,963 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
C |
6: 136,583,725 (GRCm39) |
I1252T |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,367 (GRCm39) |
T220A |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,178,778 (GRCm39) |
F1856S |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,083,896 (GRCm39) |
N743I |
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,471,784 (GRCm39) |
K174E |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,893,222 (GRCm39) |
Q351L |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,672,919 (GRCm39) |
V550L |
possibly damaging |
Het |
| Edem1 |
T |
G |
6: 108,813,738 (GRCm39) |
S178A |
probably damaging |
Het |
| Fam222b |
C |
T |
11: 78,044,934 (GRCm39) |
A165V |
probably benign |
Het |
| Fer |
T |
C |
17: 64,203,262 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fggy |
T |
G |
4: 95,814,986 (GRCm39) |
F535C |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,222,627 (GRCm39) |
S1091T |
probably damaging |
Het |
| Fut7 |
G |
T |
2: 25,315,155 (GRCm39) |
V91L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,103,067 (GRCm39) |
C565S |
probably damaging |
Het |
| Gzmm |
C |
T |
10: 79,530,897 (GRCm39) |
T233I |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,418,804 (GRCm39) |
L789Q |
possibly damaging |
Het |
| Krt32 |
G |
A |
11: 99,974,876 (GRCm39) |
S357F |
possibly damaging |
Het |
| Lrig2 |
C |
T |
3: 104,401,512 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
C |
A |
4: 107,718,431 (GRCm39) |
Q678K |
probably benign |
Het |
| Mmp27 |
C |
A |
9: 7,571,591 (GRCm39) |
Q45K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,099,896 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,294 (GRCm39) |
H684Q |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,460 (GRCm39) |
D2041G |
probably damaging |
Het |
| Nrg3 |
G |
T |
14: 38,390,256 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,276,085 (GRCm39) |
H46L |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,427 (GRCm39) |
Q1903K |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,913,554 (GRCm39) |
V616A |
probably damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,843,234 (GRCm39) |
F75Y |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,472,219 (GRCm39) |
V132I |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,201,740 (GRCm39) |
S227P |
probably damaging |
Het |
| Psmb5 |
G |
A |
14: 54,854,083 (GRCm39) |
R132C |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,668,602 (GRCm39) |
N360D |
probably damaging |
Het |
| Pygm |
G |
A |
19: 6,443,868 (GRCm39) |
V610M |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,349 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,187 (GRCm39) |
L157P |
probably damaging |
Het |
| Sost |
T |
G |
11: 101,855,084 (GRCm39) |
E75A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 111,958,922 (GRCm39) |
S119G |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,984,954 (GRCm39) |
I238T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,581,081 (GRCm39) |
L507* |
probably null |
Het |
| Tmem106a |
T |
C |
11: 101,477,121 (GRCm39) |
I110T |
possibly damaging |
Het |
| Tmem38a |
A |
T |
8: 73,339,926 (GRCm39) |
D298V |
possibly damaging |
Het |
| Tmprss12 |
A |
T |
15: 100,183,262 (GRCm39) |
R201S |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,238,759 (GRCm39) |
T271A |
possibly damaging |
Het |
| Virma |
T |
G |
4: 11,514,096 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,162 (GRCm39) |
I178N |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,604,901 (GRCm39) |
S1276P |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,398 (GRCm39) |
Y29C |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation