Incidental Mutation 'R7881:Fstl5'
| ID |
608740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
045933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7881 (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 A
at 76443605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 317
(G317R)
|
| 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: G317R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: G317R
| 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: G317R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: G317R
| 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 |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,685 (GRCm39) |
N1030S |
possibly damaging |
Het |
| 4930507D05Rik |
A |
G |
10: 62,285,303 (GRCm39) |
H9R |
unknown |
Het |
| Anks1b |
T |
A |
10: 90,802,880 (GRCm39) |
S398T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,122,871 (GRCm39) |
K139N |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,948,666 (GRCm39) |
H3047N |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,920,333 (GRCm39) |
S18F |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,031,277 (GRCm39) |
Y12C |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,705,271 (GRCm39) |
A585T |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,957,497 (GRCm39) |
N109S |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,198,893 (GRCm39) |
D180E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,997,450 (GRCm39) |
M546K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,237 (GRCm39) |
V3024I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,322,064 (GRCm39) |
D3752G |
probably damaging |
Het |
| Dram1 |
G |
T |
10: 88,160,609 (GRCm39) |
D237E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,426 (GRCm39) |
N626D |
probably benign |
Het |
| Elavl1 |
T |
G |
8: 4,361,763 (GRCm39) |
N3T |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,574,589 (GRCm39) |
V340A |
probably benign |
Het |
| Fer1l5 |
C |
T |
1: 36,446,117 (GRCm39) |
T876M |
not run |
Het |
| Foxp2 |
T |
A |
6: 15,409,888 (GRCm39) |
V471E |
unknown |
Het |
| Gm32742 |
T |
C |
9: 51,060,414 (GRCm39) |
E963G |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,733 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,769,568 (GRCm39) |
C218Y |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,442 (GRCm39) |
H298R |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,967,591 (GRCm39) |
C72S |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,583,206 (GRCm39) |
M193T |
probably damaging |
Het |
| Khdc1c |
G |
T |
1: 21,439,899 (GRCm39) |
C150F |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,208 (GRCm39) |
S1485P |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,787,001 (GRCm39) |
S533P |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,040,060 (GRCm39) |
V997E |
possibly damaging |
Het |
| Mob2 |
T |
C |
7: 141,563,177 (GRCm39) |
Y94C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Npepl1 |
A |
G |
2: 173,962,387 (GRCm39) |
D351G |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,328,352 (GRCm39) |
Q213* |
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,810,990 (GRCm39) |
D677G |
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,890,904 (GRCm39) |
E70G |
probably damaging |
Het |
| Or2b4 |
G |
T |
17: 38,116,320 (GRCm39) |
G95C |
probably damaging |
Het |
| Or56a3 |
G |
T |
7: 104,735,780 (GRCm39) |
V286F |
probably damaging |
Het |
| Or5aq7 |
G |
T |
2: 86,938,401 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5m3b |
C |
A |
2: 85,871,814 (GRCm39) |
Q52K |
probably benign |
Het |
| Or8c8 |
T |
A |
9: 38,165,406 (GRCm39) |
M228K |
probably benign |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,976,084 (GRCm39) |
T347N |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,100,393 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Ptch2 |
A |
G |
4: 116,967,585 (GRCm39) |
H751R |
probably benign |
Het |
| Ptges2 |
T |
A |
2: 32,292,243 (GRCm39) |
M353K |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,373,728 (GRCm39) |
Q564* |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,330,637 (GRCm39) |
D279G |
probably damaging |
Het |
| Rftn1 |
C |
T |
17: 50,354,463 (GRCm39) |
V300I |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,717,585 (GRCm39) |
T1172A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,544,244 (GRCm39) |
D74G |
unknown |
Het |
| Setd1b |
A |
G |
5: 123,290,336 (GRCm39) |
M768V |
unknown |
Het |
| Shld2 |
A |
T |
14: 33,989,724 (GRCm39) |
M394K |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,422,289 (GRCm39) |
H298L |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,701,704 (GRCm39) |
L977Q |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,403,332 (GRCm39) |
V800I |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,943,547 (GRCm39) |
S44P |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,586 (GRCm39) |
C190Y |
probably benign |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,104 (GRCm39) |
R582Q |
probably damaging |
Het |
| Tmem247 |
T |
A |
17: 87,229,728 (GRCm39) |
F190I |
probably damaging |
Het |
| Trim42 |
C |
A |
9: 97,245,070 (GRCm39) |
A577S |
possibly damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,528,726 (GRCm39) |
T61I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,923,435 (GRCm39) |
Q279* |
probably null |
Het |
| Usp48 |
A |
G |
4: 137,360,766 (GRCm39) |
N733S |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,487 (GRCm39) |
P568S |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,664,679 (GRCm39) |
W513R |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,410,440 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
A |
11: 95,640,935 (GRCm39) |
S287T |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,394,533 (GRCm39) |
A49V |
unknown |
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 |
|
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'- CATGGAGTATTTATCAGTGAAAGCTC -3'
(R):5'- CATGTTTGCCTGATGATTGACATTTTC -3'
Sequencing Primer
(F):5'- TGCTCGTGAACATAAGTGA -3'
(R):5'- GTGTTAATCAGGTGGGATCTTAAAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation