Incidental Mutation 'IGL02057:Fahd1'
ID 185268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fahd1
Ensembl Gene ENSMUSG00000045316
Gene Name fumarylacetoacetate hydrolase domain containing 1
Synonyms 1110025H10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # IGL02057
Quality Score
Status
Chromosome 17
Chromosomal Location 25067870-25069276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25068570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 169 (I169N)
Ref Sequence ENSEMBL: ENSMUSP00000055827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024974] [ENSMUST00000049642] [ENSMUST00000118788] [ENSMUST00000130989] [ENSMUST00000149716] [ENSMUST00000154363] [ENSMUST00000164251] [ENSMUST00000169200]
AlphaFold Q8R0F8
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: I169N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: I169N

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
Ankk1 T C 9: 49,328,072 (GRCm39) N369S probably damaging Het
Atp13a3 C T 16: 30,151,182 (GRCm39) A1043T probably benign Het
AY358078 G A 14: 52,057,762 (GRCm39) V287I unknown Het
Cemip T C 7: 83,636,661 (GRCm39) E324G probably damaging Het
Ckap5 T A 2: 91,431,052 (GRCm39) D1487E possibly damaging Het
Dscam G A 16: 96,517,273 (GRCm39) Q879* probably null Het
Eci2 A G 13: 35,174,759 (GRCm39) L50P probably damaging Het
Erp44 A T 4: 48,236,964 (GRCm39) H65Q probably benign Het
Galm T C 17: 80,488,996 (GRCm39) I214T probably benign Het
Gipc3 T A 10: 81,178,968 (GRCm39) N42Y probably damaging Het
H2-Eb2 A T 17: 34,554,741 (GRCm39) probably benign Het
Itgb3 A T 11: 104,523,174 (GRCm39) I113F probably damaging Het
Lef1 T G 3: 130,994,051 (GRCm39) Y342* probably null Het
Lilrb4a G A 10: 51,368,103 (GRCm39) D168N possibly damaging Het
Or51b6b T A 7: 103,309,860 (GRCm39) Y199F probably damaging Het
Or5m10 T A 2: 85,717,275 (GRCm39) F44I probably benign Het
Orc1 T G 4: 108,445,926 (GRCm39) S15A possibly damaging Het
Pdk2 C T 11: 94,919,324 (GRCm39) G317D probably benign Het
Rab37 T C 11: 115,051,543 (GRCm39) S217P probably benign Het
Rere C T 4: 150,699,289 (GRCm39) probably benign Het
Scn11a C T 9: 119,594,536 (GRCm39) G1286S probably damaging Het
Sirt1 A G 10: 63,160,982 (GRCm39) S357P probably damaging Het
Smpdl3b T A 4: 132,461,024 (GRCm39) E351V probably benign Het
Sox6 C A 7: 115,149,310 (GRCm39) G355W probably damaging Het
Spopfm2 T A 3: 94,083,662 (GRCm39) S50C probably damaging Het
Srpk2 G T 5: 23,723,705 (GRCm39) A502E probably damaging Het
Trim67 G A 8: 125,549,869 (GRCm39) V500I probably benign Het
Ube2v2 A G 16: 15,394,922 (GRCm39) V83A probably benign Het
Usp43 A T 11: 67,747,113 (GRCm39) S865T probably benign Het
Vdac1 G A 11: 52,267,371 (GRCm39) probably null Het
Vmn2r69 T A 7: 85,060,990 (GRCm39) H198L possibly damaging Het
Vmn2r93 T C 17: 18,546,032 (GRCm39) C635R probably damaging Het
Other mutations in Fahd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02663:Fahd1 APN 17 25,068,478 (GRCm39) missense probably damaging 1.00
IGL02677:Fahd1 APN 17 25,068,504 (GRCm39) missense probably damaging 1.00
R0508:Fahd1 UTSW 17 25,068,975 (GRCm39) missense probably benign 0.22
R1915:Fahd1 UTSW 17 25,068,622 (GRCm39) missense possibly damaging 0.80
R2022:Fahd1 UTSW 17 25,068,814 (GRCm39) missense probably benign 0.01
R2314:Fahd1 UTSW 17 25,068,570 (GRCm39) missense probably damaging 1.00
R5130:Fahd1 UTSW 17 25,068,733 (GRCm39) missense probably damaging 0.98
R6746:Fahd1 UTSW 17 25,068,915 (GRCm39) missense probably damaging 1.00
R8220:Fahd1 UTSW 17 25,068,864 (GRCm39) missense probably damaging 0.98
R8546:Fahd1 UTSW 17 25,069,057 (GRCm39) missense possibly damaging 0.50
Posted On 2014-05-07