Incidental Mutation 'R4987:Hibadh'
ID 385909
Institutional Source Beutler Lab
Gene Symbol Hibadh
Ensembl Gene ENSMUSG00000029776
Gene Name 3-hydroxyisobutyrate dehydrogenase
Synonyms 6430402H10Rik
MMRRC Submission 042581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4987 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 52523215-52617285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52599880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 105 (S105R)
Ref Sequence ENSEMBL: ENSMUSP00000031788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031788]
AlphaFold Q99L13
Predicted Effect probably damaging
Transcript: ENSMUST00000031788
AA Change: S105R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: S105R

DomainStartEndE-ValueType
Pfam:2-Hacid_dh_C 19 154 4.6e-10 PFAM
Pfam:NAD_binding_2 38 200 1.3e-51 PFAM
Pfam:F420_oxidored 40 133 3.4e-7 PFAM
Pfam:NAD_binding_11 202 329 6.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155948
Meta Mutation Damage Score 0.3428 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.3%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,030,725 (GRCm39) S249P probably benign Het
Adcy4 A G 14: 56,010,934 (GRCm39) V661A probably benign Het
Ahdc1 T G 4: 132,791,631 (GRCm39) H957Q possibly damaging Het
Atp10b A G 11: 43,042,440 (GRCm39) probably benign Het
B3gnt5 A T 16: 19,587,952 (GRCm39) N57I probably damaging Het
Brms1l T A 12: 55,912,800 (GRCm39) D264E probably benign Het
Camk1g T A 1: 193,030,783 (GRCm39) N309Y probably damaging Het
Chl1 A G 6: 103,651,938 (GRCm39) T285A probably damaging Het
Cspg4b T C 13: 113,454,635 (GRCm39) V227A probably benign Het
Dennd1c G T 17: 57,380,852 (GRCm39) T200K probably damaging Het
Dpysl3 C A 18: 43,461,492 (GRCm39) M566I probably benign Het
Dscam A T 16: 96,498,721 (GRCm39) D985E probably benign Het
Fmo5 T C 3: 97,542,894 (GRCm39) M68T probably benign Het
Gm26996 A G 6: 130,567,959 (GRCm39) unknown Het
Gm9991 A T 1: 90,603,138 (GRCm39) noncoding transcript Het
Gzmc T A 14: 56,468,997 (GRCm39) I241L probably damaging Het
Krt87 A G 15: 101,384,890 (GRCm39) I402T probably benign Het
Krtap31-2 A G 11: 99,827,396 (GRCm39) D76G possibly damaging Het
Lin9 A G 1: 180,496,329 (GRCm39) S249G probably damaging Het
Lpcat1 T A 13: 73,637,222 (GRCm39) probably null Het
Mfap4 A G 11: 61,376,908 (GRCm39) I46V probably benign Het
Nos1 T C 5: 118,064,598 (GRCm39) probably null Het
Nostrin A G 2: 68,986,775 (GRCm39) M107V probably benign Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or8k33 A C 2: 86,383,579 (GRCm39) D296E probably null Het
Pcdha12 T A 18: 37,154,604 (GRCm39) V441E probably damaging Het
Plcd4 A G 1: 74,587,118 (GRCm39) probably benign Het
Plscr1l1 T C 9: 92,236,637 (GRCm39) S175P probably damaging Het
Ppme1 T C 7: 99,994,278 (GRCm39) D145G probably benign Het
Rbm25 T C 12: 83,724,630 (GRCm39) V793A probably damaging Het
Rlbp1 A T 7: 79,029,879 (GRCm39) V118E probably damaging Het
Serinc2 C T 4: 130,156,820 (GRCm39) probably null Het
Slc25a32 A G 15: 38,963,414 (GRCm39) C136R possibly damaging Het
Smco2 A G 6: 146,757,590 (GRCm39) D48G possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Ubr1 A T 2: 120,794,047 (GRCm39) L46I probably benign Het
Wdsub1 A G 2: 59,700,737 (GRCm39) probably benign Het
Zp3 T A 5: 136,016,359 (GRCm39) C320* probably null Het
Other mutations in Hibadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Hibadh APN 6 52,525,874 (GRCm39) missense possibly damaging 0.93
IGL03116:Hibadh APN 6 52,525,917 (GRCm39) missense probably damaging 1.00
R0103:Hibadh UTSW 6 52,534,862 (GRCm39) missense probably benign 0.25
R0103:Hibadh UTSW 6 52,534,862 (GRCm39) missense probably benign 0.25
R0468:Hibadh UTSW 6 52,534,755 (GRCm39) splice site probably benign
R0800:Hibadh UTSW 6 52,533,490 (GRCm39) missense probably damaging 1.00
R1950:Hibadh UTSW 6 52,533,448 (GRCm39) missense probably benign 0.10
R4379:Hibadh UTSW 6 52,597,027 (GRCm39) missense probably damaging 0.98
R4614:Hibadh UTSW 6 52,523,915 (GRCm39) missense possibly damaging 0.85
R5073:Hibadh UTSW 6 52,597,079 (GRCm39) missense possibly damaging 0.90
R5074:Hibadh UTSW 6 52,597,079 (GRCm39) missense possibly damaging 0.90
R5402:Hibadh UTSW 6 52,523,965 (GRCm39) missense probably benign 0.32
R6390:Hibadh UTSW 6 52,533,474 (GRCm39) missense probably damaging 1.00
R6575:Hibadh UTSW 6 52,524,013 (GRCm39) missense probably damaging 1.00
R7360:Hibadh UTSW 6 52,617,197 (GRCm39) missense probably benign
R7974:Hibadh UTSW 6 52,534,880 (GRCm39) missense probably benign 0.44
R8477:Hibadh UTSW 6 52,617,185 (GRCm39) missense probably benign
R9196:Hibadh UTSW 6 52,525,865 (GRCm39) missense probably damaging 1.00
Z1177:Hibadh UTSW 6 52,596,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGCAGGAAACCACTGTTCAC -3'
(R):5'- ACTCTAGCAGCCTCCATTTG -3'

Sequencing Primer
(F):5'- GCAGGAAACCACTGTTCACTTTATG -3'
(R):5'- ACTGAGCTTTGTTACTGGTCATGATC -3'
Posted On 2016-05-10