Incidental Mutation 'IGL02677:Fahd1'
ID 303170
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 # IGL02677
Quality Score
Status
Chromosome 17
Chromosomal Location 25067870-25069276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25068504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 191 (I191N)
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: I191N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: I191N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Fahd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Fahd1 APN 17 25,068,570 (GRCm39) missense probably damaging 1.00
IGL02663:Fahd1 APN 17 25,068,478 (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 2015-04-16