Incidental Mutation 'R6600:Flywch2'
ID 543470
Institutional Source Beutler Lab
Gene Symbol Flywch2
Ensembl Gene ENSMUSG00000023911
Gene Name FLYWCH family member 2
Synonyms 3010014L17Rik, 2810417J12Rik
MMRRC Submission 044724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6600 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23995890-24005055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23997084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 109 (G109V)
Ref Sequence ENSEMBL: ENSMUSP00000121741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024704] [ENSMUST00000127144]
AlphaFold Q9CQE9
Predicted Effect probably benign
Transcript: ENSMUST00000024704
SMART Domains Protein: ENSMUSP00000024704
Gene: ENSMUSG00000023911

DomainStartEndE-ValueType
Pfam:FLYWCH_N 1 106 2.4e-47 PFAM
low complexity region 117 130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122991
SMART Domains Protein: ENSMUSP00000118135
Gene: ENSMUSG00000023911

DomainStartEndE-ValueType
Pfam:FLYWCH_N 1 54 6.1e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127144
AA Change: G109V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121741
Gene: ENSMUSG00000023911
AA Change: G109V

DomainStartEndE-ValueType
Pfam:FLYWCH_N 1 106 8.2e-50 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik ACGC ACGCGC 5: 138,645,710 (GRCm39) probably null Het
Adam1b C T 5: 121,639,530 (GRCm39) C505Y probably damaging Het
Adam24 C A 8: 41,133,587 (GRCm39) H352N probably damaging Het
Bcl6b A T 11: 70,119,954 (GRCm39) L11Q probably damaging Het
C2cd5 A T 6: 143,025,702 (GRCm39) V165E probably damaging Het
Cacna1d T C 14: 29,836,192 (GRCm39) N852S probably benign Het
Cd320 T C 17: 34,066,591 (GRCm39) C110R probably damaging Het
Cdk2ap1rt A C 11: 48,717,115 (GRCm39) V21G probably damaging Het
Clasrp T A 7: 19,324,207 (GRCm39) K223* probably null Het
Col5a1 C A 2: 27,887,583 (GRCm39) N951K unknown Het
Csn2 T C 5: 87,842,491 (GRCm39) T171A probably benign Het
Dse A G 10: 34,028,537 (GRCm39) I851T probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxo24 T A 5: 137,611,135 (GRCm39) I413F probably damaging Het
Fnip1 A G 11: 54,393,925 (GRCm39) D787G probably benign Het
Gramd1c T A 16: 43,860,482 (GRCm39) R72* probably null Het
Hspd1 T C 1: 55,117,777 (GRCm39) I494V probably benign Het
Limch1 T C 5: 66,903,281 (GRCm39) V10A probably benign Het
Lrrfip1 C T 1: 91,043,569 (GRCm39) S658F probably damaging Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Naip1 C T 13: 100,559,666 (GRCm39) G1113S probably benign Het
Nlrc3 A G 16: 3,782,938 (GRCm39) I157T probably benign Het
Or4a67 A G 2: 88,598,101 (GRCm39) V186A probably benign Het
Pdlim5 T C 3: 141,965,039 (GRCm39) R126G probably damaging Het
Pgm1 C T 4: 99,824,259 (GRCm39) R311* probably null Het
Ptcd3 T C 6: 71,860,530 (GRCm39) Y559C probably damaging Het
Robo1 T C 16: 72,786,543 (GRCm39) S852P probably damaging Het
Rps6kb2 A T 19: 4,208,850 (GRCm39) M259K probably damaging Het
Sema4b T C 7: 79,862,676 (GRCm39) L84P probably benign Het
Slf1 A C 13: 77,231,655 (GRCm39) S575A probably benign Het
Tjap1 T C 17: 46,570,924 (GRCm39) N173S probably damaging Het
Trpm1 T A 7: 63,803,781 (GRCm39) M1K probably null Het
Ubr1 C A 2: 120,745,880 (GRCm39) K851N probably benign Het
Zfp568 C A 7: 29,721,948 (GRCm39) R298S possibly damaging Het
Other mutations in Flywch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Flywch2 APN 17 23,996,081 (GRCm39) splice site probably benign
R2444:Flywch2 UTSW 17 23,996,024 (GRCm39) missense possibly damaging 0.73
R4021:Flywch2 UTSW 17 23,996,013 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TCCATCTTGGCTTGCCTGAG -3'
(R):5'- GGGTCAATCTTTAGCAGTTTCCC -3'

Sequencing Primer
(F):5'- GCCTGAGAGTTTAGCCCCTAATG -3'
(R):5'- AGCAGTTTCCCTTTGCCCCTAG -3'
Posted On 2019-01-10