Incidental Mutation 'IGL02663:Fahd1'
ID302617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fahd1
Ensembl Gene ENSMUSG00000045316
Gene Namefumarylacetoacetate hydrolase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.460) question?
Stock #IGL02663
Quality Score
Status
Chromosome17
Chromosomal Location24848896-24850302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 24849504 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 200 (G200R)
Ref Sequence ENSEMBL: ENSMUSP00000055827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024974] [ENSMUST00000049642] [ENSMUST00000118788] [ENSMUST00000130989] [ENSMUST00000149716] [ENSMUST00000154363] [ENSMUST00000164251] [ENSMUST00000169200]
Predicted Effect probably benign
Transcript: ENSMUST00000024974
SMART Domains Protein: ENSMUSP00000024974
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049642
AA Change: G200R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: G200R

DomainStartEndE-ValueType
Pfam:FAA_hydrolase 22 223 4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118788
SMART Domains Protein: ENSMUSP00000113051
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
Lactamase_B 60 222 2.61e-32 SMART
Pfam:HAGH_C 223 304 5.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130989
SMART Domains Protein: ENSMUSP00000120734
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
Lactamase_B 11 166 1.53e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149716
SMART Domains Protein: ENSMUSP00000114838
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
Lactamase_B 11 132 1.22e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154363
SMART Domains Protein: ENSMUSP00000114672
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
Pfam:Lactamase_B 56 106 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164251
SMART Domains Protein: ENSMUSP00000129904
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169200
SMART Domains Protein: ENSMUSP00000126514
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Lactamase_B 23 150 2.66e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A C 3: 97,205,332 F1269C probably damaging Het
Cdc20b T A 13: 113,056,131 probably null Het
Chrna1 A G 2: 73,574,316 probably benign Het
Creb5 A G 6: 53,680,961 H236R probably damaging Het
Cyp17a1 A G 19: 46,672,566 F93S probably damaging Het
Cyp4a32 T A 4: 115,610,590 L257H probably damaging Het
Ifit1 A G 19: 34,640,980 probably benign Het
Mfhas1 G T 8: 35,589,906 V512L probably damaging Het
Myh13 C T 11: 67,354,927 Q1095* probably null Het
Nfia A G 4: 98,041,619 T339A probably benign Het
Npas3 T C 12: 54,068,908 L840P probably damaging Het
Nsf T C 11: 103,930,815 T2A probably benign Het
Olfr116 A T 17: 37,624,044 I197K probably benign Het
Olfr1465 A G 19: 13,313,379 V302A probably benign Het
Olfr740 A G 14: 50,453,852 T267A probably benign Het
P2rx2 C T 5: 110,340,249 E480K possibly damaging Het
P2rx2 G T 5: 110,340,186 probably null Het
Ppp1r8 G A 4: 132,833,108 T94I probably damaging Het
S100a11 A T 3: 93,524,157 E33D probably damaging Het
Sec31b C A 19: 44,534,278 A92S probably damaging Het
Serpina3g C T 12: 104,239,140 T46I possibly damaging Het
Sgo2b A T 8: 63,943,114 I36N probably damaging Het
Slc35e1 A G 8: 72,488,209 L223P probably damaging Het
St14 T C 9: 31,100,382 probably null Het
Sult2a8 A G 7: 14,425,443 Y84H possibly damaging Het
Tas1r2 T C 4: 139,660,282 Y322H probably benign Het
Tmem59 T C 4: 107,197,541 L181P probably damaging Het
Trp73 A G 4: 154,062,506 probably null Het
Ube2h A G 6: 30,241,413 V86A probably damaging Het
Vmn2r22 A T 6: 123,649,158 H106Q probably benign Het
Wdr63 A T 3: 146,054,557 M692K possibly damaging Het
Xirp2 T C 2: 67,509,458 V681A possibly damaging Het
Other mutations in Fahd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Fahd1 APN 17 24849596 missense probably damaging 1.00
IGL02677:Fahd1 APN 17 24849530 missense probably damaging 1.00
R0508:Fahd1 UTSW 17 24850001 missense probably benign 0.22
R1915:Fahd1 UTSW 17 24849648 missense possibly damaging 0.80
R2022:Fahd1 UTSW 17 24849840 missense probably benign 0.01
R2314:Fahd1 UTSW 17 24849596 missense probably damaging 1.00
R5130:Fahd1 UTSW 17 24849759 missense probably damaging 0.98
R6746:Fahd1 UTSW 17 24849941 missense probably damaging 1.00
Posted On2015-04-16