Incidental Mutation 'IGL02960:Fadd'
ID 365320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fadd
Ensembl Gene ENSMUSG00000031077
Gene Name Fas associated via death domain
Synonyms Mort1/FADD
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02960
Quality Score
Status
Chromosome 7
Chromosomal Location 144132060-144136178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144134276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 203 (E203G)
Ref Sequence ENSEMBL: ENSMUSP00000033394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033394]
AlphaFold Q61160
PDB Structure DEATH DOMAIN OF FAS-ASSOCIATED DEATH DOMAIN PROTEIN, RESIDUES 89-183 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000033394
AA Change: E203G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033394
Gene: ENSMUSG00000031077
AA Change: E203G

DomainStartEndE-ValueType
DED 2 81 2.05e-21 SMART
DEATH 87 181 1.67e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097928
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with abnormal embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,257 (GRCm39) R14C probably benign Het
Adam29 A T 8: 56,325,701 (GRCm39) L251* probably null Het
Atpaf2 T C 11: 60,296,650 (GRCm39) E161G probably damaging Het
Brwd1 T C 16: 95,858,666 (GRCm39) D381G probably damaging Het
Cept1 T A 3: 106,446,712 (GRCm39) R45* probably null Het
Col3a1 A G 1: 45,367,615 (GRCm39) E273G unknown Het
Cuzd1 T C 7: 130,921,832 (GRCm39) N57D probably benign Het
Cyp2b13 A G 7: 25,761,101 (GRCm39) K53E probably benign Het
Gm3159 G A 14: 4,400,552 (GRCm38) probably null Het
Gpr137c T C 14: 45,483,890 (GRCm39) F206L possibly damaging Het
Hephl1 G T 9: 14,995,615 (GRCm39) T471N probably damaging Het
Ido1 A T 8: 25,083,345 (GRCm39) probably benign Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lrp2 T A 2: 69,285,797 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,147,025 (GRCm39) L613H probably damaging Het
Mettl14 A G 3: 123,168,534 (GRCm39) Y169H probably damaging Het
Nlrp4a A G 7: 26,149,155 (GRCm39) Q254R probably benign Het
Or4c15 A C 2: 88,760,128 (GRCm39) M177R possibly damaging Het
Or7c70 A T 10: 78,683,371 (GRCm39) I126N probably damaging Het
Pira12 T C 7: 3,900,078 (GRCm39) T175A possibly damaging Het
Pkhd1 A T 1: 20,447,670 (GRCm39) M2241K possibly damaging Het
Ptprd G A 4: 76,047,105 (GRCm39) S387L probably damaging Het
Ryr1 A C 7: 28,759,478 (GRCm39) L3264R probably damaging Het
Serpina16 G A 12: 103,641,638 (GRCm39) T29I probably benign Het
Slc9a7 A G X: 20,052,382 (GRCm39) M237T probably benign Het
Tbck A G 3: 132,428,544 (GRCm39) T300A probably benign Het
Tcaf1 A C 6: 42,663,393 (GRCm39) D162E probably benign Het
Unc80 G A 1: 66,717,217 (GRCm39) probably benign Het
Usp17le A C 7: 104,417,947 (GRCm39) H398Q probably benign Het
Utp15 G A 13: 98,389,389 (GRCm39) T303M probably benign Het
Vmn2r86 A C 10: 130,289,636 (GRCm39) D86E possibly damaging Het
Zmym2 T A 14: 57,175,870 (GRCm39) C822S probably benign Het
Zp3r T C 1: 130,511,175 (GRCm39) D336G possibly damaging Het
Zpr1 A G 9: 46,184,849 (GRCm39) H82R probably damaging Het
Other mutations in Fadd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4110:Fadd UTSW 7 144,134,488 (GRCm39) missense possibly damaging 0.67
R7172:Fadd UTSW 7 144,135,908 (GRCm39) missense probably benign 0.03
R7180:Fadd UTSW 7 144,134,522 (GRCm39) missense probably damaging 1.00
R7352:Fadd UTSW 7 144,134,396 (GRCm39) missense probably benign 0.05
R7487:Fadd UTSW 7 144,134,462 (GRCm39) missense probably damaging 1.00
R9564:Fadd UTSW 7 144,136,048 (GRCm39) missense probably damaging 0.99
R9649:Fadd UTSW 7 144,134,384 (GRCm39) missense probably benign 0.02
Posted On 2015-12-18