Incidental Mutation 'R5647:Fstl5'
ID |
441208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
MMRRC Submission |
043295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5647 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 76496399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 387
(K387N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
[ENSMUST00000162471]
|
AlphaFold |
Q8BFR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038364
AA Change: K387N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: K387N
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: K387N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: K387N
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191664
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
95% (55/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
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 |
|
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 |
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'- GGGGCATTTTAGTAGATACACATACC -3'
(R):5'- ATCAGTTTTATCTTAGCTGCAGCC -3'
Sequencing Primer
(F):5'- GGCAAATTCTGATTATTTACCCATG -3'
(R):5'- AGCTGCAGCCATGTTATACTACTG -3'
|
Posted On |
2016-11-08 |