Incidental Mutation 'RF040:Flywch1'
| ID |
604785 |
| 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 # |
RF040 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTCCTGGTGT to CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT
at 23981143 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGCTGTG |
TGCTGTGACAGCTGTG |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
G |
GTGGCTGCTC |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
| Brme1 |
TG |
TGTCAGGGCAGCAGCAG |
8: 84,894,204 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
CTGAATTGGTTCCCAGACCCGTGT |
CT |
X: 7,485,210 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCTGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dnajc2 |
TAGTTG |
T |
5: 21,962,695 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
C |
CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA |
7: 44,149,945 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Heatr3 |
TAT |
TATTGAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AACA |
AACAACA |
X: 70,162,420 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
AGCAGCAGC |
AGCAGCAGCCGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Or52z15 |
ACTTGCTGATATCTT |
ACTT |
7: 103,332,145 (GRCm39) |
|
probably null |
Het |
| Osmr |
TTCT |
TTCTTCT |
15: 6,867,182 (GRCm39) |
|
probably benign |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
AC |
ACCACCGC |
4: 134,006,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGGAAGAGG |
AG |
14: 52,386,994 (GRCm39) |
|
probably null |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGTCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
GC |
GCCCCACC |
19: 26,608,422 (GRCm39) |
|
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Sprr2b |
CAGTATGCTGTGAGCCTTGTCCTCCT |
C |
3: 92,224,871 (GRCm39) |
|
probably null |
Het |
| Sry |
GCTG |
GCTGGTGGTGGTGGTCATGGAACTG |
Y: 2,662,590 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CT |
CTATT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GC |
GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC |
18: 60,966,655 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCAACA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,035 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGTCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TTTGTTT |
TTTGTTTGGTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,141 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAA |
CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA |
15: 78,851,263 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCAACAGGAGCA |
8: 109,682,733 (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 |
|
|
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 |
|
|
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'- GAAAACTTGAAAGGCCCTAGGATC -3'
(R):5'- ACTGTCACCCACCTGAGAAG -3'
Sequencing Primer
(F):5'- TTGAAAGGCCCTAGGATCCCTTG -3'
(R):5'- CACCTGAGAAGGAGGGCCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation