Incidental Mutation 'R6852:Fstl5'
ID |
535003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
MMRRC Submission |
045023-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R6852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76615162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 741
(D741G)
|
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: D741G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: D741G
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: D741G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: D741G
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,770,930 (GRCm39) |
Q40* |
probably null |
Het |
1700034E13Rik |
T |
C |
18: 52,796,705 (GRCm39) |
V81A |
probably damaging |
Het |
A630089N07Rik |
A |
G |
16: 97,866,855 (GRCm39) |
I369T |
probably benign |
Het |
Aatk |
T |
A |
11: 119,901,294 (GRCm39) |
Q977L |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,928,844 (GRCm39) |
Q144H |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,753 (GRCm39) |
F416L |
probably benign |
Het |
Anks1b |
A |
G |
10: 90,096,516 (GRCm39) |
E425G |
probably damaging |
Het |
Atm |
A |
G |
9: 53,393,730 (GRCm39) |
S1737P |
possibly damaging |
Het |
Bsph1 |
T |
A |
7: 13,204,255 (GRCm39) |
|
probably null |
Het |
Cabyr |
C |
T |
18: 12,887,154 (GRCm39) |
P262S |
probably benign |
Het |
Cdc14a |
G |
A |
3: 116,122,325 (GRCm39) |
P214L |
possibly damaging |
Het |
Cep128 |
C |
A |
12: 91,333,116 (GRCm39) |
|
probably null |
Het |
Cfh |
T |
A |
1: 140,075,487 (GRCm39) |
R250S |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,449,646 (GRCm39) |
I417T |
probably benign |
Het |
Dgka |
T |
A |
10: 128,558,408 (GRCm39) |
K548M |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,389,654 (GRCm39) |
E203G |
probably damaging |
Het |
Epg5 |
C |
T |
18: 78,056,106 (GRCm39) |
T1760I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,488,635 (GRCm39) |
V3472A |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,402 (GRCm39) |
N9K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,560 (GRCm39) |
I1084N |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,466,727 (GRCm39) |
H833L |
probably damaging |
Het |
Foxn1 |
G |
T |
11: 78,251,786 (GRCm39) |
Q482K |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,641 (GRCm39) |
Q55* |
probably null |
Het |
H2-T5 |
T |
C |
17: 36,478,965 (GRCm39) |
N95D |
possibly damaging |
Het |
Hapln2 |
G |
A |
3: 87,929,958 (GRCm39) |
T306M |
possibly damaging |
Het |
Kat6a |
T |
A |
8: 23,428,676 (GRCm39) |
S1344T |
probably benign |
Het |
Kctd1 |
C |
T |
18: 15,119,401 (GRCm39) |
D705N |
possibly damaging |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
T |
5: 139,701,548 (GRCm39) |
A482D |
possibly damaging |
Het |
Mindy3 |
T |
A |
2: 12,424,063 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,136,867 (GRCm39) |
E352G |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,370,644 (GRCm39) |
V3219I |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,143,794 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,234,071 (GRCm39) |
I377T |
probably damaging |
Het |
Oog4 |
C |
A |
4: 143,165,679 (GRCm39) |
C156F |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,876,948 (GRCm39) |
I41F |
probably benign |
Het |
Pcyt1a |
T |
C |
16: 32,288,938 (GRCm39) |
S260P |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,711 (GRCm39) |
F1749L |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,525 (GRCm39) |
D647G |
probably benign |
Het |
Raver2 |
T |
C |
4: 100,990,787 (GRCm39) |
S387P |
probably benign |
Het |
Relch |
T |
C |
1: 105,681,320 (GRCm39) |
L1184P |
probably damaging |
Het |
Rgs19 |
A |
G |
2: 181,330,941 (GRCm39) |
S231P |
possibly damaging |
Het |
Rpl8 |
G |
T |
15: 76,790,149 (GRCm39) |
R198L |
probably benign |
Het |
Sacs |
T |
A |
14: 61,416,737 (GRCm39) |
S77T |
possibly damaging |
Het |
Samd14 |
G |
A |
11: 94,912,280 (GRCm39) |
G219D |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,331,431 (GRCm39) |
V195M |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,221,113 (GRCm39) |
V453I |
possibly damaging |
Het |
Slc46a3 |
A |
T |
5: 147,822,970 (GRCm39) |
C291S |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,332 (GRCm39) |
T129A |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,935,694 (GRCm39) |
R1041W |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
Srgap3 |
T |
C |
6: 112,793,622 (GRCm39) |
D118G |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,779,892 (GRCm39) |
V10D |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,500,206 (GRCm39) |
K1111E |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,911,566 (GRCm39) |
L139Q |
probably damaging |
Het |
Trbv23 |
T |
C |
6: 41,193,181 (GRCm39) |
V23A |
probably damaging |
Het |
Ttll3 |
AAGTA |
AAGTATAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
Ttll3 |
GGCAAAG |
GGCAAAGCAAAG |
6: 113,376,116 (GRCm39) |
|
probably null |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
T |
G |
6: 89,821,769 (GRCm39) |
T267P |
possibly damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,340,441 (GRCm39) |
V11F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,361 (GRCm39) |
M192V |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
Zdhhc1 |
C |
T |
8: 106,203,704 (GRCm39) |
G156S |
possibly damaging |
Het |
Zfp318 |
AGAAG |
AGAAGAGGAAG |
17: 46,723,464 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
GAAGAA |
GAAGAAAAAGAA |
17: 46,723,459 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
AAGAAG |
AAGAAGTAGAAG |
17: 46,723,460 (GRCm39) |
|
probably benign |
Het |
Zfp560 |
A |
G |
9: 20,259,339 (GRCm39) |
C508R |
probably damaging |
Het |
Zfp654 |
G |
A |
16: 64,606,961 (GRCm39) |
L414F |
probably damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,355 (GRCm39) |
Y278F |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,483,515 (GRCm39) |
S385G |
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 |
|
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 |
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'- CTCGTGGTAGACAGTGTGAC -3'
(R):5'- CTTTGGAAGGTGTCATCAGGTAC -3'
Sequencing Primer
(F):5'- GTAGACAGTGTGACTGACTCTATC -3'
(R):5'- ACTGCCTTGGATGTGCC -3'
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Posted On |
2018-09-12 |