Incidental Mutation 'R0508:Fahd1'
ID 47757
Institutional Source Beutler Lab
Gene Symbol Fahd1
Ensembl Gene ENSMUSG00000045316
Gene Name fumarylacetoacetate hydrolase domain containing 1
Synonyms 1110025H10Rik
MMRRC Submission 038703-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R0508 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 25067870-25069276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25068975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 34 (V34G)
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 benign
Transcript: ENSMUST00000049642
AA Change: V34G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: V34G

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
Meta Mutation Damage Score 0.3924 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,211,162 (GRCm39) L632P probably damaging Het
4833439L19Rik A G 13: 54,700,863 (GRCm39) probably null Het
Abca4 T C 3: 121,917,200 (GRCm39) probably benign Het
Adamts10 G T 17: 33,762,692 (GRCm39) G557V probably damaging Het
Adgrg6 T C 10: 14,326,360 (GRCm39) H424R probably benign Het
Ano4 T C 10: 88,816,839 (GRCm39) Q623R probably damaging Het
Ap1g1 T A 8: 110,564,364 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,702,222 (GRCm39) S1092P unknown Het
Arhgap32 A T 9: 32,101,364 (GRCm39) probably benign Het
Arhgap40 A T 2: 158,388,670 (GRCm39) S535C probably damaging Het
Atp9a T C 2: 168,491,446 (GRCm39) probably null Het
Bicral A T 17: 47,136,327 (GRCm39) H294Q possibly damaging Het
Ccdc121rt3 T C 5: 112,502,685 (GRCm39) K340E probably damaging Het
Cdhr5 T A 7: 140,852,812 (GRCm39) H58L probably benign Het
Cenpt T C 8: 106,576,147 (GRCm39) E100G possibly damaging Het
Cep97 A G 16: 55,750,969 (GRCm39) S16P probably benign Het
Clec2i T A 6: 128,870,663 (GRCm39) V67D probably damaging Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Coq6 G T 12: 84,414,913 (GRCm39) probably benign Het
Cyp1a1 A G 9: 57,607,588 (GRCm39) Q72R probably benign Het
Ep400 A G 5: 110,887,374 (GRCm39) S570P probably benign Het
Erbin T C 13: 103,970,535 (GRCm39) N1027S probably damaging Het
Exog T A 9: 119,277,444 (GRCm39) probably benign Het
Fetub C T 16: 22,748,045 (GRCm39) R74W probably benign Het
Fhip2a T A 19: 57,367,174 (GRCm39) L239Q probably benign Het
Frmpd1 G A 4: 45,284,938 (GRCm39) G1253D unknown Het
Galnt12 A G 4: 47,104,255 (GRCm39) D171G probably damaging Het
Gm973 G T 1: 59,621,649 (GRCm39) probably benign Het
Hdlbp C A 1: 93,342,533 (GRCm39) probably null Het
Il1rl1 T A 1: 40,490,877 (GRCm39) I386N possibly damaging Het
Itgav T C 2: 83,623,002 (GRCm39) probably benign Het
Magoh A C 4: 107,742,195 (GRCm39) K114Q possibly damaging Het
Mdfic2 T C 6: 98,215,005 (GRCm39) probably benign Het
Mki67 A T 7: 135,302,075 (GRCm39) D986E probably benign Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Nckap5 T C 1: 125,909,121 (GRCm39) probably null Het
Neu1 A G 17: 35,151,760 (GRCm39) I185V probably benign Het
Nkiras1 T A 14: 18,278,524 (GRCm38) D79E probably damaging Het
Nkx3-1 A G 14: 69,428,350 (GRCm39) E66G probably benign Het
Or51a5 A T 7: 102,771,193 (GRCm39) I262N possibly damaging Het
Osbpl11 T A 16: 33,016,465 (GRCm39) N73K probably benign Het
Otulin C T 15: 27,608,944 (GRCm39) V2I possibly damaging Het
Pdss2 CGGAG CG 10: 43,097,927 (GRCm39) probably benign Het
Pld2 T C 11: 70,443,368 (GRCm39) M421T probably damaging Het
Rgs11 A G 17: 26,426,443 (GRCm39) probably benign Het
Rrad A T 8: 105,356,500 (GRCm39) D133E possibly damaging Het
Scaf11 A G 15: 96,318,368 (GRCm39) S399P probably damaging Het
Sccpdh A G 1: 179,508,080 (GRCm39) probably null Het
Scn2a A G 2: 65,548,186 (GRCm39) E1126G probably damaging Het
Selenop T G 15: 3,305,202 (GRCm39) D119E probably benign Het
Serpinb3c T A 1: 107,204,651 (GRCm39) S32C probably damaging Het
Serpine1 C A 5: 137,093,770 (GRCm39) K315N probably benign Het
Slc27a1 T C 8: 72,032,872 (GRCm39) probably benign Het
Slc4a8 G A 15: 100,686,973 (GRCm39) R259Q probably benign Het
Smtnl2 C T 11: 72,293,962 (GRCm39) R198Q probably damaging Het
Spta1 A C 1: 174,052,023 (GRCm39) Y1819S probably damaging Het
Stard3 T A 11: 98,263,140 (GRCm39) I65N probably damaging Het
Tfrc T C 16: 32,448,997 (GRCm39) L712P probably damaging Het
Tmem201 G A 4: 149,816,343 (GRCm39) R62C probably damaging Het
Trim5 A T 7: 103,914,811 (GRCm39) F410L probably null Het
Txndc2 T A 17: 65,944,948 (GRCm39) I410F probably benign Het
Urb1 C T 16: 90,580,150 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,392 (GRCm39) F115L probably benign Het
Vnn1 T C 10: 23,770,910 (GRCm39) V46A probably benign Het
Xrn1 T A 9: 95,933,789 (GRCm39) S1615R probably benign Het
Zfand4 T A 6: 116,262,828 (GRCm39) C118S probably damaging Het
Zfp952 G A 17: 33,221,979 (GRCm39) E115K possibly damaging Het
Zfpm1 T C 8: 123,061,872 (GRCm39) F368L probably damaging 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
IGL02677:Fahd1 APN 17 25,068,504 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCACATCTCTGGCAGTCATGTCC -3'
(R):5'- CCTGCTCTTTACCAAAATGCCACG -3'

Sequencing Primer
(F):5'- CAGTCATGTCCAGGCACAG -3'
(R):5'- CAAACCGCTGTCTCGTTTCT -3'
Posted On 2013-06-12