Incidental Mutation 'R7200:Flywch1'
ID |
560258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flywch1
|
Ensembl Gene |
ENSMUSG00000040097 |
Gene Name |
FLYWCH-type zinc finger 1 |
Synonyms |
|
MMRRC Submission |
045278-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7200 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23971767-23990576 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23980033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 247
(H247R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045517]
[ENSMUST00000086325]
[ENSMUST00000226460]
|
AlphaFold |
Q8CI03 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045517
AA Change: H247R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040022 Gene: ENSMUSG00000040097 AA Change: H247R
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 |
possibly damaging
Transcript: ENSMUST00000086325
AA Change: H247R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083505 Gene: ENSMUSG00000040097 AA Change: H247R
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 |
|
Meta Mutation Damage Score |
0.6435 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
G |
11: 65,043,836 (GRCm39) |
M75T |
unknown |
Het |
2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
Ciz1 |
T |
C |
2: 32,254,299 (GRCm39) |
L80P |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
Dmgdh |
T |
C |
13: 93,828,393 (GRCm39) |
L178P |
probably damaging |
Het |
Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
H2-T13 |
A |
T |
17: 36,391,938 (GRCm39) |
I45N |
possibly damaging |
Het |
Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCATCGCAATCCTCCAAG -3'
(R):5'- TTCACACATGCCCAGCTCAG -3'
Sequencing Primer
(F):5'- AGCCCCAATTCGCCTTG -3'
(R):5'- GCTCAGGGAAATATGTCAACATCTG -3'
|
Posted On |
2019-06-26 |