Incidental Mutation 'R0830:Flywch1'
| ID |
77507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flywch1
|
| Ensembl Gene |
ENSMUSG00000040097 |
| Gene Name |
FLYWCH-type zinc finger 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23981344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 160
(K160E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
[ENSMUST00000226460]
|
| AlphaFold |
Q8CI03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045517
AA Change: K160E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: K160E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FLYWCH_N
|
1 |
83 |
1.2e-24 |
PFAM |
|
Pfam:FLYWCH
|
92 |
150 |
7e-17 |
PFAM |
|
Pfam:FLYWCH
|
235 |
293 |
3.3e-17 |
PFAM |
|
low complexity region
|
352 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
Pfam:FLYWCH
|
402 |
460 |
9.7e-18 |
PFAM |
|
Pfam:FLYWCH
|
490 |
548 |
7.9e-18 |
PFAM |
|
Pfam:FLYWCH
|
581 |
639 |
6.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086325
AA Change: K160E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: K160E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FLYWCH_N
|
1 |
84 |
9.7e-10 |
PFAM |
|
Pfam:FLYWCH
|
92 |
150 |
3.8e-17 |
PFAM |
|
Pfam:FLYWCH
|
235 |
293 |
3.1e-17 |
PFAM |
|
Pfam:FLYWCH_u
|
294 |
401 |
1.3e-30 |
PFAM |
|
Pfam:FLYWCH
|
402 |
460 |
9.1e-18 |
PFAM |
|
Pfam:FLYWCH
|
490 |
548 |
6.8e-18 |
PFAM |
|
Pfam:FLYWCH_u
|
549 |
568 |
9.1e-3 |
PFAM |
|
Pfam:FLYWCH
|
581 |
639 |
4.7e-17 |
PFAM |
|
Pfam:FLYWCH_u
|
640 |
672 |
4.6e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226460
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227120
AA Change: K113E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228934
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.0%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,624 (GRCm39) |
R145H |
probably damaging |
Het |
| Adam26a |
C |
T |
8: 44,021,439 (GRCm39) |
V684I |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,195 (GRCm39) |
I170M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,151,239 (GRCm39) |
Y2069H |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,401,992 (GRCm39) |
T1219A |
probably damaging |
Het |
| Bnip1 |
T |
C |
17: 27,008,679 (GRCm39) |
S94P |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,270,224 (GRCm39) |
I805V |
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,378,375 (GRCm39) |
D609E |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,669 (GRCm39) |
V2771E |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,216 (GRCm39) |
K274R |
probably benign |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,101 (GRCm39) |
T1098I |
probably damaging |
Het |
| Ddx39a |
T |
A |
8: 84,446,452 (GRCm39) |
C74S |
possibly damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,543 (GRCm39) |
A37T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,580,815 (GRCm39) |
M637T |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,948,358 (GRCm39) |
L93P |
probably benign |
Het |
| F2 |
T |
C |
2: 91,460,545 (GRCm39) |
E316G |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,053,258 (GRCm39) |
Q4084P |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,459 (GRCm39) |
T230A |
probably benign |
Het |
| Fthl17a |
A |
G |
X: 84,313,679 (GRCm39) |
N154S |
possibly damaging |
Het |
| Hykk |
G |
A |
9: 54,844,601 (GRCm39) |
R222Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,582,150 (GRCm39) |
V357E |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,923 (GRCm39) |
E15G |
probably damaging |
Het |
| Irak1 |
T |
C |
X: 73,060,189 (GRCm39) |
D679G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,143,568 (GRCm39) |
E321G |
probably benign |
Het |
| Nudt1 |
T |
A |
5: 140,321,076 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
G |
14: 60,480,931 (GRCm39) |
F138S |
probably damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,804 (GRCm39) |
M87L |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,873,532 (GRCm39) |
W49L |
probably benign |
Het |
| Pllp |
T |
C |
8: 95,406,103 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,887,267 (GRCm39) |
V37A |
probably damaging |
Het |
| Poglut3 |
T |
G |
9: 53,302,011 (GRCm39) |
L32R |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,757,797 (GRCm39) |
H310R |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Sash1 |
C |
T |
10: 8,605,673 (GRCm39) |
V906M |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,130,128 (GRCm39) |
I1212K |
probably damaging |
Het |
| Stbd1 |
A |
T |
5: 92,752,989 (GRCm39) |
S160C |
probably benign |
Het |
| Tex29 |
T |
C |
8: 11,904,157 (GRCm39) |
V99A |
probably benign |
Het |
| Tg |
A |
T |
15: 66,596,993 (GRCm39) |
N79I |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,860 (GRCm39) |
D389G |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,452 (GRCm39) |
T167A |
possibly damaging |
Het |
| Xkr4 |
C |
T |
1: 3,740,968 (GRCm39) |
G202S |
possibly damaging |
Het |
|
| Other mutations in Flywch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01716:Flywch1
|
APN |
17 |
23,982,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01843:Flywch1
|
APN |
17 |
23,979,319 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02110:Flywch1
|
APN |
17 |
23,982,066 (GRCm39) |
splice site |
probably null |
|
|
IGL02586:Flywch1
|
APN |
17 |
23,974,676 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02870:Flywch1
|
APN |
17 |
23,974,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02877:Flywch1
|
APN |
17 |
23,979,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lubdub
|
UTSW |
17 |
23,980,033 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1411:Flywch1
|
UTSW |
17 |
23,974,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Flywch1
|
UTSW |
17 |
23,981,287 (GRCm39) |
nonsense |
probably null |
|
|
R2153:Flywch1
|
UTSW |
17 |
23,974,624 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2314:Flywch1
|
UTSW |
17 |
23,982,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2497:Flywch1
|
UTSW |
17 |
23,974,685 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3022:Flywch1
|
UTSW |
17 |
23,982,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3625:Flywch1
|
UTSW |
17 |
23,979,175 (GRCm39) |
splice site |
probably benign |
|
|
R3691:Flywch1
|
UTSW |
17 |
23,982,186 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4805:Flywch1
|
UTSW |
17 |
23,979,591 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5321:Flywch1
|
UTSW |
17 |
23,975,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Flywch1
|
UTSW |
17 |
23,974,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7200:Flywch1
|
UTSW |
17 |
23,980,033 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7629:Flywch1
|
UTSW |
17 |
23,974,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8362:Flywch1
|
UTSW |
17 |
23,975,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Flywch1
|
UTSW |
17 |
23,975,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Flywch1
|
UTSW |
17 |
23,981,140 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Flywch1
|
UTSW |
17 |
23,981,145 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Flywch1
|
UTSW |
17 |
23,981,138 (GRCm39) |
frame shift |
probably null |
|
|
RF009:Flywch1
|
UTSW |
17 |
23,981,135 (GRCm39) |
frame shift |
probably null |
|
|
RF010:Flywch1
|
UTSW |
17 |
23,981,149 (GRCm39) |
frame shift |
probably null |
|
|
RF013:Flywch1
|
UTSW |
17 |
23,981,149 (GRCm39) |
frame shift |
probably null |
|
|
RF018:Flywch1
|
UTSW |
17 |
23,981,140 (GRCm39) |
frame shift |
probably null |
|
|
RF022:Flywch1
|
UTSW |
17 |
23,981,141 (GRCm39) |
frame shift |
probably null |
|
|
RF027:Flywch1
|
UTSW |
17 |
23,981,132 (GRCm39) |
frame shift |
probably null |
|
|
RF031:Flywch1
|
UTSW |
17 |
23,981,132 (GRCm39) |
frame shift |
probably null |
|
|
RF038:Flywch1
|
UTSW |
17 |
23,981,138 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Flywch1
|
UTSW |
17 |
23,981,143 (GRCm39) |
frame shift |
probably null |
|
|
RF041:Flywch1
|
UTSW |
17 |
23,981,151 (GRCm39) |
frame shift |
probably null |
|
|
RF041:Flywch1
|
UTSW |
17 |
23,981,135 (GRCm39) |
frame shift |
probably null |
|
|
RF046:Flywch1
|
UTSW |
17 |
23,981,148 (GRCm39) |
frame shift |
probably null |
|
|
RF046:Flywch1
|
UTSW |
17 |
23,981,143 (GRCm39) |
frame shift |
probably null |
|
|
RF049:Flywch1
|
UTSW |
17 |
23,981,145 (GRCm39) |
frame shift |
probably null |
|
|
RF058:Flywch1
|
UTSW |
17 |
23,981,151 (GRCm39) |
frame shift |
probably null |
|
|
X0009:Flywch1
|
UTSW |
17 |
23,974,629 (GRCm39) |
small deletion |
probably benign |
|
|
X0028:Flywch1
|
UTSW |
17 |
23,980,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Flywch1
|
UTSW |
17 |
23,979,983 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGTCTGACCTGTGGACTAATG -3'
(R):5'- TTCCTGTACAAGCAAGAGAAGGCTG -3'
Sequencing Primer
(F):5'- GACTTACAGCACATTTTGAGAACC -3'
(R):5'- GTGGGGGACAAGGTGTACTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation