Incidental Mutation 'R0427:Fstl5'
| ID |
38726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
038629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0427 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 76615034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 698
(Y698*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
[ENSMUST00000162471]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038364
AA Change: Y698*
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: Y698*
| 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 null
Transcript: ENSMUST00000160261
AA Change: Y698*
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: Y698*
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,720 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
| BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
| Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
| Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
| Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
| Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,185,647 (GRCm39) |
S620R |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
| Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
| Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
| Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,279 (GRCm39) |
V439A |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
| Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
| Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
| Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,891 (GRCm39) |
L1143P |
possibly damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
| Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
| Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
| Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,620,432 (GRCm39) |
V691A |
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
| Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
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 |
|
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 |
|
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'- ACAATTAACCTGAAGGACTCACGATGC -3'
(R):5'- AAACAGGCCACTGCCTTGGATG -3'
Sequencing Primer
(F):5'- ATGCATTCCTCTATCCTTGGCATAC -3'
(R):5'- TCTTGACCTTCCCAGAGGAAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation