Incidental Mutation 'R6866:Fstl5'
ID |
535904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
MMRRC Submission |
044965-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R6866 (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 T
at 76229532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 111
(H111L)
|
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: H111L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: H111L
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: H111L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: H111L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,598,080 (GRCm39) |
T1438A |
possibly damaging |
Het |
Als2 |
T |
A |
1: 59,250,292 (GRCm39) |
Q484L |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bcl2l13 |
T |
A |
6: 120,839,850 (GRCm39) |
N49K |
probably benign |
Het |
Bptf |
T |
C |
11: 106,964,406 (GRCm39) |
D1596G |
probably damaging |
Het |
Brsk1 |
T |
C |
7: 4,709,406 (GRCm39) |
M325T |
probably damaging |
Het |
Caly |
T |
C |
7: 139,650,532 (GRCm39) |
M137V |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,931,115 (GRCm39) |
E526G |
possibly damaging |
Het |
Cnga4 |
A |
G |
7: 105,056,952 (GRCm39) |
S352G |
possibly damaging |
Het |
Cntnap5c |
A |
C |
17: 58,399,289 (GRCm39) |
T381P |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,833,999 (GRCm39) |
Y633F |
probably damaging |
Het |
Cryba1 |
T |
C |
11: 77,610,355 (GRCm39) |
N120S |
probably benign |
Het |
Cyfip2 |
G |
A |
11: 46,133,286 (GRCm39) |
R805* |
probably null |
Het |
Dnah7c |
C |
A |
1: 46,696,403 (GRCm39) |
P2095Q |
probably damaging |
Het |
Eif3k |
T |
C |
7: 28,676,651 (GRCm39) |
E110G |
possibly damaging |
Het |
Extl2 |
T |
A |
3: 115,821,002 (GRCm39) |
M283K |
probably damaging |
Het |
Extl2 |
A |
G |
3: 115,821,001 (GRCm39) |
M283V |
probably damaging |
Het |
Focad |
T |
C |
4: 88,321,623 (GRCm39) |
I1658T |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,892,785 (GRCm39) |
|
probably null |
Het |
Gm3633 |
T |
A |
14: 42,462,579 (GRCm39) |
|
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,485,963 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
A |
T |
16: 94,563,536 (GRCm39) |
C321S |
probably damaging |
Het |
Kif20a |
A |
T |
18: 34,761,546 (GRCm39) |
Y313F |
probably benign |
Het |
Kmt2d |
T |
G |
15: 98,755,274 (GRCm39) |
|
probably benign |
Het |
Kynu |
T |
A |
2: 43,453,122 (GRCm39) |
Y48* |
probably null |
Het |
Ly9 |
T |
C |
1: 171,432,847 (GRCm39) |
I55M |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,118,439 (GRCm39) |
V237A |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 17,853,800 (GRCm39) |
L27H |
probably benign |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myh1 |
A |
C |
11: 67,115,219 (GRCm39) |
D1918A |
probably damaging |
Het |
Myo5a |
G |
A |
9: 75,047,970 (GRCm39) |
C266Y |
probably damaging |
Het |
Nckap5l |
A |
G |
15: 99,324,349 (GRCm39) |
I718T |
probably benign |
Het |
Nptx1 |
A |
G |
11: 119,437,476 (GRCm39) |
|
probably null |
Het |
Or56a42-ps1 |
T |
A |
7: 104,775,825 (GRCm39) |
M228L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,351 (GRCm39) |
Y218H |
probably damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,377 (GRCm39) |
F260S |
probably damaging |
Het |
Phc3 |
T |
A |
3: 30,968,680 (GRCm39) |
K783* |
probably null |
Het |
Pkdrej |
A |
T |
15: 85,705,082 (GRCm39) |
C285S |
probably damaging |
Het |
Pot1b |
T |
A |
17: 55,960,474 (GRCm39) |
T619S |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,545,977 (GRCm39) |
D455V |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,386,209 (GRCm39) |
V259E |
probably damaging |
Het |
Pvr |
A |
C |
7: 19,652,555 (GRCm39) |
I120S |
probably benign |
Het |
Rbm17 |
T |
G |
2: 11,602,901 (GRCm39) |
I68L |
probably benign |
Het |
Rnf138 |
C |
T |
18: 21,135,199 (GRCm39) |
P28L |
probably damaging |
Het |
Rnf207 |
C |
T |
4: 152,396,989 (GRCm39) |
C385Y |
possibly damaging |
Het |
Serping1 |
A |
C |
2: 84,600,577 (GRCm39) |
V255G |
probably benign |
Het |
Slc25a3 |
A |
T |
10: 90,955,567 (GRCm39) |
V91E |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,857,455 (GRCm39) |
D896G |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,731,443 (GRCm39) |
T183S |
probably benign |
Het |
Slc33a1 |
A |
T |
3: 63,850,744 (GRCm39) |
F527I |
probably benign |
Het |
Sting1 |
T |
C |
18: 35,872,482 (GRCm39) |
H50R |
probably damaging |
Het |
Strn4 |
A |
T |
7: 16,562,710 (GRCm39) |
D283V |
probably damaging |
Het |
Sult1e1 |
G |
A |
5: 87,734,625 (GRCm39) |
T107I |
probably damaging |
Het |
Tango6 |
G |
A |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
T |
5: 83,461,161 (GRCm39) |
P99T |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,343,705 (GRCm39) |
L1190P |
possibly damaging |
Het |
Timm50 |
C |
T |
7: 28,005,370 (GRCm39) |
R349H |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,079,355 (GRCm39) |
I840T |
probably damaging |
Het |
Tmem45a2 |
T |
A |
16: 56,867,386 (GRCm39) |
N105I |
probably damaging |
Het |
Tsbp1 |
T |
A |
17: 34,678,935 (GRCm39) |
C216S |
possibly damaging |
Het |
Zfp148 |
T |
A |
16: 33,288,496 (GRCm39) |
C162S |
probably damaging |
Het |
Zfp534 |
T |
C |
4: 147,758,938 (GRCm39) |
K577R |
probably benign |
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 |
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'- ACTGGTAATTTCAGTGACAGAACC -3'
(R):5'- AGAATTTGGCCAGCTTTAGTCTC -3'
Sequencing Primer
(F):5'- TCAGTGACAGAACCAAGAATTTATG -3'
(R):5'- GGCCAGCTTTAGTCTCATAAATG -3'
|
Posted On |
2018-10-18 |