Incidental Mutation 'R7629:Flywch1'
| ID |
589570 |
| 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 # |
R7629 (G1)
|
| Quality Score |
179.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23974744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 632
(M632T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
|
| AlphaFold |
Q8CI03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045517
AA Change: M632T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: M632T
| 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: M632T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: M632T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
G |
A |
16: 88,504,293 (GRCm39) |
T168I |
probably benign |
Het |
| Abtb2 |
T |
A |
2: 103,513,838 (GRCm39) |
|
probably null |
Het |
| Ankrd10 |
A |
T |
8: 11,665,769 (GRCm39) |
V277E |
probably benign |
Het |
| Ankrd28 |
C |
T |
14: 31,437,221 (GRCm39) |
V615I |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,945,074 (GRCm39) |
P1079L |
probably damaging |
Het |
| Brox |
G |
A |
1: 183,074,068 (GRCm39) |
A60V |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,871,151 (GRCm39) |
V289A |
possibly damaging |
Het |
| Cplane1 |
C |
T |
15: 8,256,551 (GRCm39) |
Q2004* |
probably null |
Het |
| Dido1 |
T |
C |
2: 180,303,266 (GRCm39) |
N1546S |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,992,337 (GRCm39) |
I361N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 24,887,374 (GRCm39) |
D88E |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,865,913 (GRCm39) |
T213A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,527,514 (GRCm39) |
V555A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,394,422 (GRCm39) |
L192P |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,016,784 (GRCm39) |
R1317* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,475,176 (GRCm39) |
E25V |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,675 (GRCm39) |
D435V |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,509,283 (GRCm39) |
M375L |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
G |
A |
10: 102,224,931 (GRCm39) |
V382I |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,478,081 (GRCm39) |
T7075A |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,760,325 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,163,973 (GRCm39) |
D1995G |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,198,560 (GRCm39) |
V75A |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,100,221 (GRCm39) |
V164I |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,094,493 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,173,603 (GRCm39) |
I489T |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,740 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Pde6h |
G |
T |
6: 136,936,317 (GRCm39) |
R20L |
possibly damaging |
Het |
| Pdxk |
A |
G |
10: 78,280,840 (GRCm39) |
I200T |
probably benign |
Het |
| Ppara |
A |
T |
15: 85,682,392 (GRCm39) |
M363L |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,666,846 (GRCm39) |
L376* |
probably null |
Het |
| Serpina1a |
G |
C |
12: 103,820,067 (GRCm39) |
T393R |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,041 (GRCm39) |
R178C |
probably damaging |
Het |
| Sirpb1c |
A |
T |
3: 15,902,559 (GRCm39) |
W7R |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,799,857 (GRCm39) |
Y104C |
probably damaging |
Het |
| Slamf6 |
A |
T |
1: 171,764,191 (GRCm39) |
T195S |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,214 (GRCm39) |
D301G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,719,646 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
G |
19: 40,599,780 (GRCm39) |
D141H |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,715,877 (GRCm39) |
N1164D |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,676,002 (GRCm39) |
V711I |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,869,160 (GRCm39) |
G32D |
probably damaging |
Het |
| Usp32 |
TTTGGTTG |
TTTG |
11: 84,910,681 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,711 (GRCm39) |
I246V |
probably benign |
Het |
| Zfp362 |
G |
T |
4: 128,679,848 (GRCm39) |
R273S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,951,100 (GRCm39) |
D66G |
possibly damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
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 |
|
|
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 |
|
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'- GGCAAAGGTTCTGAAAATGCAC -3'
(R):5'- TCCTGGGATTACAGTGAGCAG -3'
Sequencing Primer
(F):5'- CAAGTTAGGCAAAAGCCCTGGTC -3'
(R):5'- TGGTGCCCTCACAGTGACTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation