Incidental Mutation 'IGL03119:Fyttd1'
ID 409910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fyttd1
Ensembl Gene ENSMUSG00000022800
Gene Name forty-two-three domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL03119
Quality Score
Status
Chromosome 16
Chromosomal Location 32877500-32908875 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32900695 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 121 (V121A)
Ref Sequence ENSEMBL: ENSMUSP00000155929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023489] [ENSMUST00000120345] [ENSMUST00000171325] [ENSMUST00000232272]
AlphaFold Q91Z49
Predicted Effect probably benign
Transcript: ENSMUST00000023489
AA Change: V239A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023489
Gene: ENSMUSG00000022800
AA Change: V239A

DomainStartEndE-ValueType
Pfam:FYTT 10 317 1.7e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120345
AA Change: V51A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113541
Gene: ENSMUSG00000022800
AA Change: V51A

DomainStartEndE-ValueType
Pfam:FYTT 2 129 1e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145146
Predicted Effect probably benign
Transcript: ENSMUST00000171325
SMART Domains Protein: ENSMUSP00000131446
Gene: ENSMUSG00000022800

DomainStartEndE-ValueType
Pfam:FYTT 3 210 6.8e-137 PFAM
Pfam:FYTT 209 283 4.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231751
Predicted Effect probably benign
Transcript: ENSMUST00000232272
AA Change: V121A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232300
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 E708G probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
E2f3 A G 13: 29,985,365 S102P probably benign Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Peli1 T C 11: 21,140,560 probably benign Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Stat2 A G 10: 128,283,517 M457V probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in Fyttd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Fyttd1 APN 16 32900661 missense probably damaging 0.99
R0014:Fyttd1 UTSW 16 32905554 missense probably damaging 1.00
R0014:Fyttd1 UTSW 16 32905554 missense probably damaging 1.00
R1742:Fyttd1 UTSW 16 32905553 nonsense probably null
R5018:Fyttd1 UTSW 16 32902417 critical splice acceptor site probably null
R5800:Fyttd1 UTSW 16 32891288 missense probably damaging 1.00
R5893:Fyttd1 UTSW 16 32898913 missense probably damaging 1.00
R7325:Fyttd1 UTSW 16 32884248 missense probably benign 0.43
R8146:Fyttd1 UTSW 16 32902492 missense probably damaging 1.00
R8702:Fyttd1 UTSW 16 32884159 missense probably damaging 0.99
Z1177:Fyttd1 UTSW 16 32877784 unclassified probably benign
Posted On 2016-08-02