Incidental Mutation 'RF049:Flywch1'
ID |
605114 |
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 # |
RF049 (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) |
CCTGGTGT to CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT
at 23981145 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: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3b |
GTAGGA |
G |
5: 26,053,486 (GRCm39) |
|
probably benign |
Het |
Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
Begain |
GCGCCCCCGCC |
GCGCCCCCGCCCCCGCC |
12: 108,999,340 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
GGGGCTG |
GGGGCTGGGGCTG |
18: 61,152,938 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCCGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
CAGCC |
CAGCCCTAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
C |
CCCAGCA |
11: 101,080,422 (GRCm39) |
|
probably benign |
Het |
Gabre |
CTCAGGCTGGGG |
C |
X: 71,313,883 (GRCm39) |
|
probably null |
Het |
Hsdl2 |
AGCTGCAGGAGCAGCCACAGCTGCAGGAG |
AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG |
4: 59,610,633 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
AG |
AGATGCAGCAGCAGCCACGG |
4: 59,610,651 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CTCCAGCTCCAGCTCCAGCTCCAG |
CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,367 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCA |
GCATCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
Nefh |
ACTTGGCCTCAGCTGG |
ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CACGTTAGCAGTGAGGAGCAAGCTGAGA |
CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,064 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
ACTCATGGTCCTGTAGAGCAATGGGGATTC |
ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,772 (GRCm39) |
|
probably benign |
Het |
Sfswap |
TCGGCCCACTCAGCCCACTCGGCC |
TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC |
5: 129,646,808 (GRCm39) |
|
probably benign |
Het |
Sirpa |
TCATCAG |
T |
2: 129,451,123 (GRCm39) |
|
probably null |
Het |
Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,150 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
CTGCTGCTGCTGCTG |
CTGCTGCTGCTGCTGATGCTGCTGCTGCTG |
15: 72,673,155 (GRCm39) |
|
probably benign |
Het |
Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTACCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
Tspan33 |
G |
GCTGT |
6: 29,709,997 (GRCm39) |
|
probably benign |
Het |
Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
Zkscan4 |
AAAAA |
AAAAAA |
13: 21,668,881 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACTTGAAAGGCCCTAGGATCCC -3'
(R):5'- ACTGTCACCCACCTGAGAAG -3'
Sequencing Primer
(F):5'- GAAAGGCCCTAGGATCCCTTGAC -3'
(R):5'- CACCTGAGAAGGAGGGCCTG -3'
|
Posted On |
2019-12-04 |