Incidental Mutation 'R5800:Fyttd1'
ID447370
Institutional Source Beutler Lab
Gene Symbol Fyttd1
Ensembl Gene ENSMUSG00000022800
Gene Nameforty-two-three domain containing 1
Synonyms
MMRRC Submission 043389-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #R5800 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location32877500-32908875 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32891288 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 86 (R86C)
Ref Sequence ENSEMBL: ENSMUSP00000131446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023489] [ENSMUST00000120345] [ENSMUST00000171325] [ENSMUST00000232272]
Predicted Effect probably damaging
Transcript: ENSMUST00000023489
AA Change: R86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023489
Gene: ENSMUSG00000022800
AA Change: R86C

DomainStartEndE-ValueType
Pfam:FYTT 10 317 1.7e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120345
SMART Domains Protein: ENSMUSP00000113541
Gene: ENSMUSG00000022800

DomainStartEndE-ValueType
Pfam:FYTT 2 129 1e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149183
Predicted Effect probably damaging
Transcript: ENSMUST00000171325
AA Change: R86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131446
Gene: ENSMUSG00000022800
AA Change: R86C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232300
Meta Mutation Damage Score 0.3576 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik G A 17: 23,717,992 P72S probably damaging Het
4932438A13Rik A G 3: 37,052,443 D4974G probably damaging Het
Abca12 A T 1: 71,321,432 V540D possibly damaging Het
Adamts8 A T 9: 30,954,482 D442V probably damaging Het
Casp4 G A 9: 5,308,915 probably null Het
Cfap45 T A 1: 172,538,600 V30E probably damaging Het
Col6a4 A G 9: 106,080,275 F117L probably damaging Het
Dnah7c A T 1: 46,647,015 T1810S probably benign Het
Drosha C T 15: 12,865,067 T627M probably damaging Het
Drosha C A 15: 12,902,647 A1001D probably damaging Het
Efhc1 G A 1: 20,978,781 V473I probably benign Het
Ephx2 T C 14: 66,107,302 K191R probably benign Het
Ero1lb T A 13: 12,602,301 probably null Het
Esyt2 A T 12: 116,370,188 D837V possibly damaging Het
Fip1l1 T A 5: 74,546,081 D126E possibly damaging Het
Gm12888 T A 4: 121,319,428 T59S probably damaging Het
Gm34653 T C 2: 34,838,642 F151S possibly damaging Het
Gm7353 A T 7: 3,110,168 noncoding transcript Het
Gpr153 C T 4: 152,280,077 Q197* probably null Het
H2-T23 G T 17: 36,031,604 probably benign Het
Ighv1-16 T A 12: 114,665,911 R85S probably benign Het
Ipcef1 T A 10: 6,890,569 D376V probably damaging Het
Kdm1a T A 4: 136,573,070 probably null Het
Klk1b27 A T 7: 44,055,664 Q85L probably benign Het
Krt39 A T 11: 99,521,145 D38E probably benign Het
L1td1 T C 4: 98,733,762 L187P possibly damaging Het
Lrrc8b C T 5: 105,481,342 S518L probably benign Het
Lyg1 C T 1: 37,946,953 D176N probably damaging Het
Mctp1 A G 13: 76,688,559 N82D probably damaging Het
Muc6 T C 7: 141,640,423 probably benign Het
Nynrin T C 14: 55,870,631 L1065P probably damaging Het
Olfr1474 T C 19: 13,471,896 S309P probably benign Het
Pcdh7 T A 5: 57,722,225 S1041T probably damaging Het
Pkd1l1 T A 11: 8,861,302 M1518L probably benign Het
Prl8a6 G T 13: 27,435,470 Q90K probably benign Het
Ptcd1 T A 5: 145,159,665 D206V probably damaging Het
Rap1gap C A 4: 137,720,377 D478E probably benign Het
Scn5a A G 9: 119,501,666 Y1269H probably damaging Het
Sdc2 A T 15: 33,028,144 H136L probably benign Het
Senp6 A T 9: 80,126,433 I120F probably damaging Het
Shisa5 G A 9: 109,056,094 probably null Het
Slc19a1 A G 10: 77,042,269 S213G probably null Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Tbc1d20 T A 2: 152,308,325 probably null Het
Tll2 T C 19: 41,104,934 H481R probably benign Het
Tmc7 A G 7: 118,539,440 V692A probably benign Het
Tmem234 T C 4: 129,607,131 probably null Het
Vmn1r237 C G 17: 21,314,807 T264S probably benign Het
Vmn2r98 A T 17: 19,065,998 T253S probably benign Het
Zfyve27 T C 19: 42,182,663 Y191H probably damaging Het
Other mutations in Fyttd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Fyttd1 APN 16 32900661 missense probably damaging 0.99
IGL03119:Fyttd1 APN 16 32900695 missense probably benign 0.08
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
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
Z1177:Fyttd1 UTSW 16 32877784 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCACTTTCGCCAAGCATATGC -3'
(R):5'- TTCAGTAATAAACGTGTGACAGAC -3'

Sequencing Primer
(F):5'- CAGTTCAGACTAGTCAGACTTCG -3'
(R):5'- ACAGACACAGTATAAATGGAAAATGG -3'
Posted On2016-12-15