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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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