Incidental Mutation 'R3740:Hacd3'
ID 353165
Institutional Source Beutler Lab
Gene Symbol Hacd3
Ensembl Gene ENSMUSG00000033629
Gene Name 3-hydroxyacyl-CoA dehydratase 3
Synonyms B-ind1, Ptplad1, Hspc121
MMRRC Submission 040726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R3740 (G1)
Quality Score 24
Status Validated
Chromosome 9
Chromosomal Location 64894265-64928975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64928755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 24 (E24G)
Ref Sequence ENSEMBL: ENSMUSP00000044955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036615]
AlphaFold Q8K2C9
Predicted Effect possibly damaging
Transcript: ENSMUST00000036615
AA Change: E24G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044955
Gene: ENSMUSG00000033629
AA Change: E24G

DomainStartEndE-ValueType
Pfam:CS 8 84 2.3e-7 PFAM
low complexity region 119 136 N/A INTRINSIC
transmembrane domain 153 175 N/A INTRINSIC
Pfam:PTPLA 195 356 1.5e-46 PFAM
Meta Mutation Damage Score 0.3932 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 94% (29/31)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,865,535 (GRCm39) R103G probably benign Het
Atp8b2 C G 3: 89,853,338 (GRCm39) A726P probably benign Het
Bbox1 A G 2: 110,135,922 (GRCm39) I19T possibly damaging Het
Ctso G A 3: 81,859,556 (GRCm39) V288I probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fam135a A T 1: 24,053,892 (GRCm39) M1215K probably damaging Het
Fam174b T C 7: 73,390,578 (GRCm39) probably null Het
Fgfr1op2 A G 6: 146,496,731 (GRCm39) I190V possibly damaging Het
Flt1 G A 5: 147,536,403 (GRCm39) R813W probably damaging Het
Gm6489 T A 1: 31,326,764 (GRCm39) noncoding transcript Het
Kat6b T G 14: 21,720,112 (GRCm39) M1488R probably damaging Het
Kcnk3 T C 5: 30,779,274 (GRCm39) V108A possibly damaging Het
Kif5a A G 10: 127,079,337 (GRCm39) I287T probably damaging Het
Mical1 A C 10: 41,355,067 (GRCm39) D192A probably benign Het
Mov10l1 A G 15: 88,896,345 (GRCm39) N678D possibly damaging Het
Nup210l A T 3: 90,114,701 (GRCm39) M1759L probably benign Het
Optn C A 2: 5,039,009 (GRCm39) M371I possibly damaging Het
Pik3cg T C 12: 32,255,223 (GRCm39) K255E probably damaging Het
Rims1 A T 1: 22,443,667 (GRCm39) V380D probably damaging Het
Serpinb6e T A 13: 34,022,943 (GRCm39) I147F probably benign Het
Slc13a1 T C 6: 24,134,476 (GRCm39) M136V probably damaging Het
Syngr4 T C 7: 45,545,194 (GRCm39) E5G possibly damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tmem88b A G 4: 155,869,884 (GRCm39) L59P probably damaging Het
Ttn T A 2: 76,620,703 (GRCm39) K13995* probably null Het
Vmn1r225 A G 17: 20,723,261 (GRCm39) Q234R possibly damaging Het
Vmn2r107 A G 17: 20,595,151 (GRCm39) N568S probably benign Het
Zfp605 G T 5: 110,276,564 (GRCm39) G561W probably damaging Het
Zfp69 T A 4: 120,788,071 (GRCm39) probably null Het
Other mutations in Hacd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Hacd3 APN 9 64,911,535 (GRCm39) splice site probably benign
IGL01323:Hacd3 APN 9 64,905,587 (GRCm39) missense probably damaging 1.00
IGL02943:Hacd3 APN 9 64,897,718 (GRCm39) missense probably damaging 0.99
R0145:Hacd3 UTSW 9 64,911,524 (GRCm39) splice site probably benign
R0390:Hacd3 UTSW 9 64,908,304 (GRCm39) missense possibly damaging 0.89
R2403:Hacd3 UTSW 9 64,908,311 (GRCm39) missense probably damaging 1.00
R3117:Hacd3 UTSW 9 64,905,591 (GRCm39) missense probably damaging 1.00
R4972:Hacd3 UTSW 9 64,897,718 (GRCm39) missense probably damaging 0.99
R6174:Hacd3 UTSW 9 64,912,909 (GRCm39) missense probably damaging 1.00
R7085:Hacd3 UTSW 9 64,905,525 (GRCm39) missense probably damaging 1.00
R9131:Hacd3 UTSW 9 64,908,286 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCACAATTCAGAGGGCCTTAGG -3'
(R):5'- AGCGTGGGTTATCTCGAGACAG -3'

Sequencing Primer
(F):5'- TTCCAGGACTCTGCTGAGG -3'
(R):5'- TTATCTCGAGACAGCCGGG -3'
Posted On 2015-10-20