Incidental Mutation 'RF027:Flywch1'
| ID |
604200 |
| 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 # |
RF027 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TCACTCACCCACTCCTGGTGT to TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT
at 23981132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
[ENSMUST00000226460]
|
| AlphaFold |
Q8CI03 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045517
|
| SMART Domains |
Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
| 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 null
Transcript: ENSMUST00000086325
|
| SMART Domains |
Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
| 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 |
probably null
Transcript: ENSMUST00000227120
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Blm |
CCTCCTCCTCCTC |
CCTCCTCCTCCTCTCCTCCTCCTC |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
ACC |
ACCTCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGG |
AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGA |
GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CTC |
CTCGTC |
2: 130,612,664 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
CCCTCCCG |
C |
17: 30,854,450 (GRCm39) |
|
probably null |
Het |
| Fam171b |
AGCAGC |
AGCAGCTGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,364 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
ATAGCCG |
A |
3: 91,989,183 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
| Mnd1 |
G |
A |
3: 84,041,366 (GRCm39) |
L79F |
possibly damaging |
Het |
| Nolc1 |
AGCAGCAGC |
AGCAGCAGCGGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
| Pdcd11 |
GGAGGAG |
GG |
19: 47,101,888 (GRCm39) |
|
probably null |
Het |
| Rbfox2 |
G |
T |
15: 77,016,973 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Tcof1 |
AGC |
AGCTGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
| Tent4a |
GACA |
G |
13: 69,681,973 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAGAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGACCAGGC |
6: 125,013,453 (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 |
|
|
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 |
|
|
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'- AAAGGCCCTAGGATCCCTTGAC -3'
(R):5'- ACTGTCACCCACCTGAGAAG -3'
Sequencing Primer
(F):5'- TAGGATCCCTTGACCACAGAG -3'
(R):5'- CACCTGAGAAGGAGGGCCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation