Incidental Mutation 'R2228:Fstl5'
ID |
239832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fstl5
|
Ensembl Gene |
ENSMUSG00000034098 |
Gene Name |
follistatin-like 5 |
Synonyms |
9130207J01Rik |
MMRRC Submission |
040229-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R2228 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 76389659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 285
(N285K)
|
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: N285K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038506 Gene: ENSMUSG00000034098 AA Change: N285K
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 |
probably damaging
Transcript: ENSMUST00000160261
AA Change: N285K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125393 Gene: ENSMUSG00000034098 AA Change: N285K
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,559,935 (GRCm39) |
T242A |
probably benign |
Het |
Adam24 |
A |
T |
8: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
Aldh3b2 |
C |
T |
19: 4,031,133 (GRCm39) |
P461S |
probably benign |
Het |
Araf |
T |
C |
X: 20,717,912 (GRCm39) |
F144L |
probably benign |
Het |
Atp11b |
G |
T |
3: 35,861,091 (GRCm39) |
D193Y |
probably damaging |
Het |
Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
A |
10: 20,215,624 (GRCm39) |
|
probably benign |
Het |
Cadps |
A |
G |
14: 12,465,935 (GRCm38) |
Y987H |
probably benign |
Het |
Capn6 |
T |
G |
X: 142,587,785 (GRCm39) |
T498P |
possibly damaging |
Het |
Ccdc153 |
T |
A |
9: 44,154,314 (GRCm39) |
L47Q |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
Cep162 |
G |
T |
9: 87,126,384 (GRCm39) |
T176K |
probably benign |
Het |
Cpsf2 |
A |
G |
12: 101,956,088 (GRCm39) |
D297G |
probably benign |
Het |
Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,099,734 (GRCm39) |
L18Q |
probably damaging |
Het |
Fem1b |
G |
T |
9: 62,704,020 (GRCm39) |
C413* |
probably null |
Het |
Flrt1 |
T |
A |
19: 7,072,723 (GRCm39) |
D608V |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,004,107 (GRCm39) |
H235R |
probably damaging |
Het |
Htr2c |
G |
C |
X: 145,977,186 (GRCm39) |
W325C |
probably damaging |
Het |
Htr2c |
G |
T |
X: 145,977,188 (GRCm39) |
C326F |
probably damaging |
Het |
Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,792 (GRCm39) |
S920P |
probably damaging |
Het |
Macroh2a1 |
C |
T |
13: 56,232,075 (GRCm39) |
G235S |
probably damaging |
Het |
Mcm8 |
T |
A |
2: 132,662,041 (GRCm39) |
I125K |
possibly damaging |
Het |
Micall1 |
C |
T |
15: 79,014,036 (GRCm39) |
R644W |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,801,463 (GRCm39) |
E1887G |
probably benign |
Het |
Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,123,007 (GRCm39) |
R3734G |
probably benign |
Het |
Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,802 (GRCm39) |
M271L |
probably benign |
Het |
P2ry4 |
A |
G |
X: 99,637,553 (GRCm39) |
L115P |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp1r26 |
T |
C |
2: 28,343,798 (GRCm39) |
F1143L |
possibly damaging |
Het |
Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
Ptafr |
T |
G |
4: 132,306,691 (GRCm39) |
I27R |
possibly damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
Reln |
A |
G |
5: 22,192,076 (GRCm39) |
F1455L |
possibly damaging |
Het |
Rufy1 |
C |
T |
11: 50,288,611 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,376,910 (GRCm39) |
H117R |
probably benign |
Het |
Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
Sipa1l3 |
T |
A |
7: 29,077,364 (GRCm39) |
K803* |
probably null |
Het |
Smim23 |
C |
A |
11: 32,771,870 (GRCm39) |
Q65H |
probably damaging |
Het |
Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
Sppl2b |
G |
A |
10: 80,701,451 (GRCm39) |
V389M |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,292,651 (GRCm39) |
I973V |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,123,531 (GRCm39) |
P10L |
probably damaging |
Het |
Taf2 |
A |
C |
15: 54,928,042 (GRCm39) |
D120E |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,555,068 (GRCm39) |
L42S |
probably benign |
Het |
Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
Tro |
A |
T |
X: 149,438,477 (GRCm39) |
M60K |
probably benign |
Het |
Ttc38 |
G |
A |
15: 85,728,704 (GRCm39) |
V219I |
probably benign |
Het |
U2af2 |
T |
C |
7: 5,078,672 (GRCm39) |
I417T |
probably damaging |
Het |
Ube2r2 |
C |
T |
4: 41,174,044 (GRCm39) |
H61Y |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r113 |
C |
T |
7: 20,521,832 (GRCm39) |
S208F |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,024,955 (GRCm39) |
K16E |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
Zdhhc4 |
A |
C |
5: 143,306,162 (GRCm39) |
W189G |
probably damaging |
Het |
Zfp512 |
A |
T |
5: 31,622,919 (GRCm39) |
K73N |
probably 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 |
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'- TGCGAATGCTTGTCAATCAAC -3'
(R):5'- TTATAGCTGCTCTGTTGGGCAC -3'
Sequencing Primer
(F):5'- AATGCTGGAAAATTACCTACTCAC -3'
(R):5'- GCCTGAAGTAAACCATGC -3'
|
Posted On |
2014-10-15 |