Incidental Mutation 'R4977:Fstl5'
| ID |
382733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
042572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R4977 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 76317801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 156
(Q156*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038364
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: Q156*
| 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 null
Transcript: ENSMUST00000160261
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: Q156*
| 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: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,026,899 (GRCm39) |
D910G |
probably benign |
Het |
| Amy1 |
C |
T |
3: 113,363,026 (GRCm39) |
|
probably null |
Het |
| C1s2 |
A |
G |
6: 124,612,598 (GRCm39) |
M19T |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,302,008 (GRCm39) |
C458R |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,325,062 (GRCm39) |
S35P |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,760,336 (GRCm39) |
L2027P |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,294,436 (GRCm39) |
I411F |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,286,236 (GRCm39) |
|
probably null |
Het |
| Dis3l |
A |
C |
9: 64,214,483 (GRCm39) |
S919A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,275 (GRCm39) |
T616A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,447,678 (GRCm39) |
T11A |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,840 (GRCm39) |
L465P |
probably damaging |
Het |
| Fbxw27 |
G |
A |
9: 109,601,187 (GRCm39) |
T311I |
probably damaging |
Het |
| Fhip1b |
A |
T |
7: 105,038,542 (GRCm39) |
D232E |
probably damaging |
Het |
| Ggn |
G |
T |
7: 28,871,621 (GRCm39) |
G334C |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,008,841 (GRCm39) |
N749D |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,946,786 (GRCm39) |
S176P |
probably benign |
Het |
| Hyal1 |
A |
G |
9: 107,456,153 (GRCm39) |
D73G |
probably benign |
Het |
| Ifi205 |
C |
A |
1: 173,842,574 (GRCm39) |
R374I |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,429,460 (GRCm39) |
V567D |
possibly damaging |
Het |
| Ighv1-43 |
A |
T |
12: 114,909,845 (GRCm39) |
S26T |
possibly damaging |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,009,669 (GRCm39) |
V309A |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,637,659 (GRCm39) |
L666Q |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,406,946 (GRCm39) |
V250A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,044,677 (GRCm39) |
Y192C |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,846 (GRCm39) |
R1200H |
probably damaging |
Het |
| Lilra6 |
T |
G |
7: 3,917,382 (GRCm39) |
R204S |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,668 (GRCm39) |
I489V |
probably benign |
Het |
| Mdh2 |
T |
A |
5: 135,812,263 (GRCm39) |
D57E |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,844,302 (GRCm39) |
S282P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,986,018 (GRCm39) |
I36N |
probably damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,907 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,689,197 (GRCm39) |
D1258G |
possibly damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,449 (GRCm39) |
S155P |
possibly damaging |
Het |
| Or2g7 |
A |
T |
17: 38,378,638 (GRCm39) |
H192L |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,455 (GRCm39) |
T262A |
possibly damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,040 (GRCm39) |
M116L |
probably benign |
Het |
| Pex7 |
T |
C |
10: 19,745,078 (GRCm39) |
T258A |
probably benign |
Het |
| Plg |
A |
G |
17: 12,621,976 (GRCm39) |
D432G |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,971,337 (GRCm39) |
S144T |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,667 (GRCm39) |
F420S |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,209,235 (GRCm39) |
V391A |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,556 (GRCm39) |
G186R |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,574 (GRCm39) |
I1357K |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
| Runx1 |
T |
A |
16: 92,441,235 (GRCm39) |
|
probably null |
Het |
| Sapcd1 |
A |
T |
17: 35,245,427 (GRCm39) |
S119T |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,679,332 (GRCm39) |
N870K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,183,314 (GRCm39) |
E59K |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,662,352 (GRCm39) |
K299E |
possibly damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,603,283 (GRCm39) |
M221I |
probably benign |
Het |
| Smg5 |
C |
T |
3: 88,263,032 (GRCm39) |
Q812* |
probably null |
Het |
| Smr3a |
T |
G |
5: 88,155,962 (GRCm39) |
|
probably null |
Het |
| Syt9 |
G |
A |
7: 107,103,479 (GRCm39) |
D426N |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,115,374 (GRCm39) |
Y204H |
probably benign |
Het |
| Tmeff2 |
T |
A |
1: 51,018,715 (GRCm39) |
C232* |
probably null |
Het |
| Tmem184a |
C |
A |
5: 139,793,757 (GRCm39) |
G219V |
probably null |
Het |
| Tnc |
G |
T |
4: 63,924,485 (GRCm39) |
T1071K |
possibly damaging |
Het |
| Tnn |
C |
A |
1: 159,948,188 (GRCm39) |
G842W |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,470,615 (GRCm39) |
I868N |
probably benign |
Het |
| Ulbp1 |
C |
T |
10: 7,397,391 (GRCm39) |
R238H |
probably benign |
Het |
| Ushbp1 |
C |
T |
8: 71,847,693 (GRCm39) |
|
probably null |
Het |
| Usp34 |
G |
C |
11: 23,438,982 (GRCm39) |
D3515H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,887,726 (GRCm39) |
E10G |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,205,965 (GRCm39) |
F1016L |
probably benign |
Het |
| Zfp235 |
T |
G |
7: 23,841,609 (GRCm39) |
I676S |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,186,811 (GRCm39) |
C947Y |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,731 (GRCm39) |
S163P |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,974,836 (GRCm39) |
I274V |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
|
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'- TCCAGCACCATGGGACTAGTTC -3'
(R):5'- ATGCCAGGTCGGTTTCAACC -3'
Sequencing Primer
(F):5'- CAGCACCATGGGACTAGTTCATTTAC -3'
(R):5'- AGGTCGGTTTCAACCCCATC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation