Incidental Mutation 'IGL01843:Flywch1'
| ID |
178078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Flywch1
|
| Ensembl Gene |
ENSMUSG00000040097 |
| Gene Name |
FLYWCH-type zinc finger 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23979319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 439
(M439L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
[ENSMUST00000226460]
|
| AlphaFold |
Q8CI03 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045517
AA Change: M439L
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: M439L
| 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 |
possibly damaging
Transcript: ENSMUST00000086325
AA Change: M439L
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: M439L
| 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: M392L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228934
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,989,169 (GRCm39) |
L782P |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,765 (GRCm39) |
D1914G |
unknown |
Het |
| C8a |
G |
A |
4: 104,719,808 (GRCm39) |
Q57* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,850,069 (GRCm39) |
S1144P |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,598 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,924,268 (GRCm39) |
Q198R |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,700 (GRCm39) |
I228V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,833,222 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,522,395 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,994,046 (GRCm39) |
V440A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,085,281 (GRCm39) |
D620G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,449 (GRCm39) |
L1202* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,542,798 (GRCm39) |
H3538P |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,067,292 (GRCm39) |
Q312L |
probably benign |
Het |
| E2f7 |
T |
G |
10: 110,610,596 (GRCm39) |
V407G |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,165 (GRCm39) |
S500P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,395 (GRCm39) |
I2002V |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,757,759 (GRCm39) |
A2488E |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,208,600 (GRCm39) |
S832P |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,724 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,083,165 (GRCm39) |
I177T |
probably benign |
Het |
| Irgm2 |
G |
A |
11: 58,111,167 (GRCm39) |
G298D |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,230 (GRCm39) |
G152D |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,012,654 (GRCm39) |
T620A |
probably benign |
Het |
| Mapk12 |
A |
G |
15: 89,021,669 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,297,572 (GRCm39) |
Y315C |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,769,905 (GRCm39) |
|
probably null |
Het |
| Met |
T |
A |
6: 17,491,700 (GRCm39) |
I154N |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,055,095 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,328,772 (GRCm39) |
R234G |
possibly damaging |
Het |
| Olfm5 |
C |
A |
7: 103,809,951 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or4d11 |
G |
T |
19: 12,014,041 (GRCm39) |
H22N |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,145,886 (GRCm39) |
T659I |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,027,187 (GRCm39) |
V620A |
possibly damaging |
Het |
| Rbak |
A |
G |
5: 143,162,355 (GRCm39) |
|
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,816,844 (GRCm39) |
I401M |
probably benign |
Het |
| Rragc |
T |
C |
4: 123,814,852 (GRCm39) |
S183P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,163,814 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
A |
T |
19: 8,603,578 (GRCm39) |
|
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,910,417 (GRCm39) |
T348S |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,054,623 (GRCm39) |
R2157G |
probably benign |
Het |
| Tmem168 |
G |
A |
6: 13,582,940 (GRCm39) |
T263M |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,625,007 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,777,137 (GRCm39) |
V549E |
probably damaging |
Het |
| Ttll7 |
A |
C |
3: 146,645,776 (GRCm39) |
K545Q |
possibly damaging |
Het |
| Tubgcp5 |
T |
G |
7: 55,449,221 (GRCm39) |
D139E |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,861 (GRCm39) |
N30Y |
probably damaging |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,962 (GRCm39) |
D63A |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,485 (GRCm39) |
L622Q |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,148 (GRCm39) |
M691V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,372,729 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R0830:Flywch1
|
UTSW |
17 |
23,981,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation