Incidental Mutation 'IGL02586:Flywch1'
ID |
299559 |
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 # |
IGL02586
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23974676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 655
(A655T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
|
AlphaFold |
Q8CI03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045517
AA Change: A655T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000040022 Gene: ENSMUSG00000040097 AA Change: A655T
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: A655T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000083505 Gene: ENSMUSG00000040097 AA Change: A655T
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 |
noncoding transcript
Transcript: ENSMUST00000180547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181605
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227120
AA Change: A608T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227733
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,811,261 (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 |
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 |
|
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 |
2015-04-16 |