Incidental Mutation 'IGL01716:Flywch1'
| ID |
104949 |
| 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 # |
IGL01716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23982000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 68
(V68A)
|
| 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: V68A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: V68A
| 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: V68A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: V68A
| 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
AA Change: V68A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227120
AA Change: V21A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228934
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,395,574 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,304,307 (GRCm39) |
D741G |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,966,353 (GRCm39) |
T325A |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,378,915 (GRCm39) |
V183E |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,124,470 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,985,335 (GRCm39) |
I3852T |
probably benign |
Het |
| Exoc6 |
T |
A |
19: 37,671,412 (GRCm39) |
S801T |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,574,615 (GRCm39) |
I130M |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,393,454 (GRCm39) |
T1140A |
probably benign |
Het |
| Limk2 |
C |
T |
11: 3,308,990 (GRCm39) |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,599,812 (GRCm39) |
V576I |
probably benign |
Het |
| Mei4 |
C |
T |
9: 81,772,235 (GRCm39) |
A16V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,538,330 (GRCm39) |
I685T |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,698,277 (GRCm39) |
V256E |
probably damaging |
Het |
| Or1a1 |
C |
T |
11: 74,087,207 (GRCm39) |
R293W |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,759,679 (GRCm39) |
F34I |
probably benign |
Het |
| Or9g4b |
A |
T |
2: 85,616,487 (GRCm39) |
I211F |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,791 (GRCm39) |
V588A |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,228 (GRCm39) |
S741T |
probably damaging |
Het |
| Plekha4 |
C |
A |
7: 45,183,767 (GRCm39) |
S66R |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,336,278 (GRCm39) |
N1492S |
probably benign |
Het |
| Rbfox3 |
T |
C |
11: 118,404,115 (GRCm39) |
H28R |
possibly damaging |
Het |
| Reep2 |
C |
T |
18: 34,979,302 (GRCm39) |
T209I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,017 (GRCm39) |
H450R |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,384 (GRCm39) |
D427G |
unknown |
Het |
| Tnfrsf1b |
C |
T |
4: 144,942,493 (GRCm39) |
C430Y |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,094 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
A |
C |
2: 58,680,058 (GRCm39) |
T295P |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,922,995 (GRCm39) |
V528A |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,963,580 (GRCm39) |
C714R |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,208 (GRCm39) |
S260P |
possibly damaging |
Het |
| Zpbp |
A |
T |
11: 11,354,052 (GRCm39) |
S295T |
probably benign |
Het |
|
| Other mutations in Flywch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation