Incidental Mutation 'R1642:Fstl5'
| ID |
173591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
039678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R1642 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76317929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 198
(N198K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038364
AA Change: N198K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: N198K
| 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 |
noncoding transcript
Transcript: ENSMUST00000159686
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160261
AA Change: N198K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: N198K
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,862,233 (GRCm39) |
V19A |
probably benign |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,774 (GRCm39) |
Y210H |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,769,882 (GRCm39) |
I327N |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,109,107 (GRCm39) |
N688Y |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,947,382 (GRCm39) |
K457R |
probably benign |
Het |
| Acsm2 |
A |
T |
7: 119,162,860 (GRCm39) |
N45Y |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,373,917 (GRCm39) |
S108P |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,060,588 (GRCm39) |
M174K |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,867 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
G |
A |
2: 143,683,683 (GRCm39) |
R214W |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,532,107 (GRCm39) |
D566G |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,073,401 (GRCm39) |
I341V |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,153 (GRCm39) |
D349V |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,406,399 (GRCm39) |
I18F |
unknown |
Het |
| Degs2 |
C |
T |
12: 108,658,451 (GRCm39) |
C176Y |
probably benign |
Het |
| Dhx16 |
A |
T |
17: 36,201,957 (GRCm39) |
T995S |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,679,415 (GRCm39) |
C521S |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,203 (GRCm39) |
S532P |
probably benign |
Het |
| Dpysl4 |
T |
G |
7: 138,670,254 (GRCm39) |
M124R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,001 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,370,393 (GRCm39) |
V395D |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,406 (GRCm39) |
D460G |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,305,634 (GRCm39) |
H247Y |
probably benign |
Het |
| Fsbp |
T |
A |
4: 11,583,965 (GRCm39) |
S221R |
probably benign |
Het |
| Gemin5 |
G |
T |
11: 58,029,906 (GRCm39) |
H855Q |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,535 (GRCm39) |
E103G |
probably benign |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,471 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
C |
A |
5: 24,757,686 (GRCm39) |
R177L |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,898,183 (GRCm39) |
R1646W |
probably damaging |
Het |
| Klri2 |
A |
T |
6: 129,715,837 (GRCm39) |
C121S |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,806,008 (GRCm39) |
Y703C |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,788 (GRCm39) |
N154S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,317 (GRCm39) |
F812L |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,380,010 (GRCm39) |
Y1564C |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,485 (GRCm39) |
M23V |
probably benign |
Het |
| Nnt |
A |
G |
13: 119,541,086 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
C |
19: 46,067,461 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
T |
8: 32,314,536 (GRCm39) |
M289K |
probably benign |
Het |
| Oas3 |
G |
T |
5: 120,915,639 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or10h1 |
A |
G |
17: 33,418,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2z2 |
A |
G |
11: 58,346,664 (GRCm39) |
I37T |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,201 (GRCm39) |
K6E |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,650 (GRCm39) |
R122H |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,788,067 (GRCm39) |
Y612H |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,332,283 (GRCm39) |
M240K |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,533,987 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,366,518 (GRCm39) |
V42A |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,540,134 (GRCm39) |
V172M |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,150 (GRCm39) |
|
silent |
Het |
| Prop1 |
A |
G |
11: 50,844,152 (GRCm39) |
V27A |
possibly damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,242 (GRCm39) |
T295A |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,203,517 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
G |
19: 41,860,176 (GRCm39) |
F1016L |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,514,041 (GRCm39) |
I242F |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,032,160 (GRCm39) |
H655L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,298,694 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Triobp |
C |
A |
15: 78,886,348 (GRCm39) |
R1830S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,880,930 (GRCm39) |
I285V |
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 |
|
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'- TTGTTACAGGGGACAACTGCATGG -3'
(R):5'- TGAGATGCCAAACTTCAGCCCAG -3'
Sequencing Primer
(F):5'- GGCCATTGAATACAGCAAGATG -3'
(R):5'- CCAAATTATGTATGCCAGGTCGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation