Incidental Mutation 'R7787:Fstl5'
| ID |
599575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
045843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76337131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 230
(D230A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038364
AA Change: D230A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: D230A
| 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: D230A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: D230A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,263,926 (GRCm39) |
I38N |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,959,220 (GRCm39) |
V216M |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,772,685 (GRCm39) |
V32M |
probably damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,471,625 (GRCm39) |
V714F |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,986,679 (GRCm39) |
D2654E |
unknown |
Het |
| Ak8 |
T |
A |
2: 28,602,324 (GRCm39) |
I86N |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,040,780 (GRCm39) |
R635Q |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,150,700 (GRCm39) |
R1466H |
possibly damaging |
Het |
| Bltp1 |
A |
C |
3: 36,939,557 (GRCm39) |
H137P |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,066,866 (GRCm39) |
T252A |
unknown |
Het |
| Cacna1e |
T |
A |
1: 154,358,314 (GRCm39) |
I648F |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,917,412 (GRCm39) |
D121G |
probably benign |
Het |
| Cc2d1a |
C |
A |
8: 84,860,144 (GRCm39) |
Q904H |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,903 (GRCm39) |
S212P |
probably damaging |
Het |
| Cfap69 |
C |
T |
5: 5,639,260 (GRCm39) |
C638Y |
probably damaging |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,659,594 (GRCm39) |
V754A |
probably benign |
Het |
| Cnpy4 |
T |
A |
5: 138,190,900 (GRCm39) |
H187Q |
probably benign |
Het |
| Cpne5 |
A |
T |
17: 29,407,261 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
T |
2: 145,767,515 (GRCm39) |
N359K |
probably benign |
Het |
| Cyb561 |
A |
T |
11: 105,828,466 (GRCm39) |
L63H |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,775,676 (GRCm39) |
T540A |
probably benign |
Het |
| Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Hecw1 |
T |
C |
13: 14,493,494 (GRCm39) |
Q337R |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,632,343 (GRCm39) |
Y865N |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,743,735 (GRCm39) |
Y477C |
probably damaging |
Het |
| Ifi205 |
C |
T |
1: 173,842,640 (GRCm39) |
G352E |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,842,644 (GRCm39) |
S351C |
probably damaging |
Het |
| Irak3 |
C |
A |
10: 120,012,256 (GRCm39) |
Q169H |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,453,499 (GRCm39) |
N99K |
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,818,598 (GRCm39) |
F298S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,192,380 (GRCm39) |
E256G |
|
Het |
| Lamc3 |
T |
C |
2: 31,790,551 (GRCm39) |
I257T |
probably damaging |
Het |
| Mas1 |
A |
C |
17: 13,061,374 (GRCm39) |
N16K |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,794 (GRCm39) |
L3855Q |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,125,246 (GRCm39) |
G258D |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,364,533 (GRCm39) |
H4358Q |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,552,208 (GRCm39) |
D1012G |
unknown |
Het |
| Nub1 |
C |
A |
5: 24,913,801 (GRCm39) |
Q561K |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,107,980 (GRCm39) |
N1029S |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,853,252 (GRCm39) |
C99* |
probably null |
Het |
| Or56a4 |
T |
G |
7: 104,806,401 (GRCm39) |
I163L |
probably benign |
Het |
| Or5k15 |
A |
G |
16: 58,709,953 (GRCm39) |
F210S |
probably benign |
Het |
| Or6e1 |
A |
G |
14: 54,520,169 (GRCm39) |
L61P |
probably damaging |
Het |
| Or8g19 |
C |
T |
9: 39,055,548 (GRCm39) |
L51F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,280,277 (GRCm39) |
Y701N |
possibly damaging |
Het |
| Pglyrp4 |
C |
G |
3: 90,640,295 (GRCm39) |
H182D |
probably damaging |
Het |
| Phaf1 |
T |
G |
8: 105,957,820 (GRCm39) |
V42G |
probably damaging |
Het |
| Pkp4 |
C |
A |
2: 59,152,881 (GRCm39) |
D576E |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,083,811 (GRCm39) |
V17A |
unknown |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Pou4f1 |
A |
T |
14: 104,703,460 (GRCm39) |
M324K |
unknown |
Het |
| Ppa2 |
G |
T |
3: 133,036,259 (GRCm39) |
G138W |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,285 (GRCm39) |
F990I |
possibly damaging |
Het |
| Proser1 |
T |
A |
3: 53,380,969 (GRCm39) |
I182N |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,952,016 (GRCm39) |
L214P |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,496,762 (GRCm39) |
S1765P |
possibly damaging |
Het |
| Slc15a2 |
G |
A |
16: 36,572,228 (GRCm39) |
S712L |
probably benign |
Het |
| Slc38a9 |
T |
C |
13: 112,825,880 (GRCm39) |
L106P |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,453,900 (GRCm39) |
R271H |
probably damaging |
Het |
| Spsb4 |
T |
A |
9: 96,877,643 (GRCm39) |
I227F |
probably damaging |
Het |
| Srgap3 |
C |
T |
6: 112,752,520 (GRCm39) |
M321I |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,596,418 (GRCm39) |
I340V |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 51,181,711 (GRCm39) |
R341* |
probably null |
Het |
| Terf2ip |
A |
C |
8: 112,742,087 (GRCm39) |
E260D |
probably damaging |
Het |
| Tert |
G |
T |
13: 73,797,051 (GRCm39) |
K1096N |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Ube3d |
T |
A |
9: 86,254,395 (GRCm39) |
Q362L |
possibly damaging |
Het |
| Unc5c |
G |
A |
3: 141,474,313 (GRCm39) |
G295D |
probably damaging |
Het |
| Wnt7b |
T |
A |
15: 85,428,112 (GRCm39) |
I117F |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,895,043 (GRCm39) |
|
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,186,226 (GRCm39) |
Q752R |
possibly damaging |
Het |
| Zkscan3 |
T |
C |
13: 21,572,034 (GRCm39) |
K533E |
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 |
|
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 |
|
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'- AACCTGGCTTTTCTGTGCAG -3'
(R):5'- GGAAGAGCCAAAACCTTAAATTCTCTC -3'
Sequencing Primer
(F):5'- CAGGTGTCTCCCCAGTGTAAATAAAG -3'
(R):5'- GCCTGCAAGCCATATTGTA -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation