Incidental Mutation 'R9012:Fstl5'
| ID |
685678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
068842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R9012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76567027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 557
(W557L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
[ENSMUST00000162471]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038364
AA Change: W557L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: W557L
| 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 damaging
Transcript: ENSMUST00000160261
AA Change: W557L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: W557L
| 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 |
|
| Meta Mutation Damage Score |
0.7749 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
T |
C |
8: 125,290,954 (GRCm39) |
N118D |
probably benign |
Het |
| Apol8 |
T |
C |
15: 77,634,324 (GRCm39) |
D84G |
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,187,838 (GRCm39) |
D19E |
probably benign |
Het |
| B3gnt3 |
G |
T |
8: 72,145,673 (GRCm39) |
H232N |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,921,964 (GRCm39) |
K347R |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,814,050 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
C |
T |
1: 164,110,062 (GRCm39) |
R390W |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,859,077 (GRCm39) |
V93A |
|
Het |
| Cfap91 |
T |
C |
16: 38,122,335 (GRCm39) |
E712G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,268,567 (GRCm39) |
I191V |
possibly damaging |
Het |
| Coro1c |
T |
C |
5: 113,988,737 (GRCm39) |
D202G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,447 (GRCm39) |
I85T |
probably benign |
Het |
| Cyp2c55 |
C |
T |
19: 39,030,560 (GRCm39) |
T464I |
probably benign |
Het |
| Dlgap1 |
G |
A |
17: 70,823,182 (GRCm39) |
E56K |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,470,156 (GRCm39) |
F298L |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,822,934 (GRCm39) |
W237R |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,711,347 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
A |
7: 80,032,884 (GRCm39) |
D287V |
possibly damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,263 (GRCm39) |
N555D |
possibly damaging |
Het |
| Gm10277 |
C |
T |
11: 77,676,848 (GRCm39) |
R41K |
unknown |
Het |
| Gm21834 |
T |
C |
17: 58,049,162 (GRCm39) |
E18G |
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,829 (GRCm39) |
F346L |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,159,402 (GRCm39) |
V524E |
probably benign |
Het |
| Ikbke |
T |
C |
1: 131,201,190 (GRCm39) |
I207V |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,996 (GRCm39) |
I492V |
unknown |
Het |
| Itsn1 |
C |
A |
16: 91,645,849 (GRCm39) |
F846L |
unknown |
Het |
| Ldhal6b |
A |
T |
17: 5,467,942 (GRCm39) |
Y331N |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,978 (GRCm39) |
T1816P |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,593,550 (GRCm39) |
R19H |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,934,606 (GRCm39) |
T338S |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,791,960 (GRCm39) |
E832G |
probably benign |
Het |
| Myom1 |
T |
G |
17: 71,407,103 (GRCm39) |
D1173E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,074,733 (GRCm39) |
I821F |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,021,423 (GRCm39) |
K806E |
probably benign |
Het |
| Or2ag13 |
T |
C |
7: 106,313,115 (GRCm39) |
M258V |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,929 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or6c215 |
A |
C |
10: 129,637,471 (GRCm39) |
S308A |
probably benign |
Het |
| Palld |
T |
A |
8: 62,173,697 (GRCm39) |
S321C |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,062,847 (GRCm39) |
|
probably benign |
Het |
| Prr35 |
A |
G |
17: 26,166,685 (GRCm39) |
L284P |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,596 (GRCm39) |
H81L |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,489,411 (GRCm39) |
E905K |
probably benign |
Het |
| Siglecg |
T |
A |
7: 43,060,523 (GRCm39) |
L301Q |
probably damaging |
Het |
| Slc25a15 |
A |
G |
8: 22,867,878 (GRCm39) |
W301R |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,602,554 (GRCm39) |
V169D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,320 (GRCm39) |
V1174A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,982,491 (GRCm39) |
V363A |
probably damaging |
Het |
| Sppl3 |
C |
A |
5: 115,226,987 (GRCm39) |
P239T |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,500,611 (GRCm39) |
S650T |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,688 (GRCm39) |
T402A |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,092,144 (GRCm39) |
E84D |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,523,208 (GRCm39) |
V56A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,090 (GRCm39) |
T192A |
possibly damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,627 (GRCm39) |
D316G |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,915 (GRCm39) |
W218R |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,124,391 (GRCm39) |
S330G |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,971 (GRCm39) |
V220A |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,960 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,283 (GRCm39) |
C347S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,416 (GRCm39) |
C294* |
probably null |
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 |
|
|
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 |
|
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'- GAAAATCAGGTATCTGGCCAAATAC -3'
(R):5'- ATCCTAGTCTGACATAACAACCTGG -3'
Sequencing Primer
(F):5'- CCTGAGTTCCTGGATTCTT -3'
(R):5'- ACAACCTGGATTTTACACATGTTTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation