Incidental Mutation 'R8477:Hibadh'
ID 657303
Institutional Source Beutler Lab
Gene Symbol Hibadh
Ensembl Gene ENSMUSG00000029776
Gene Name 3-hydroxyisobutyrate dehydrogenase
Synonyms 6430402H10Rik
MMRRC Submission 067921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8477 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 52523215-52617285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52617185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 17 (W17R)
Ref Sequence ENSEMBL: ENSMUSP00000031788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031788]
AlphaFold Q99L13
Predicted Effect probably benign
Transcript: ENSMUST00000031788
AA Change: W17R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: W17R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,924,174 (GRCm39) S94L probably benign Het
Ackr1 C T 1: 173,159,755 (GRCm39) G255R probably damaging Het
Aldh1l2 G A 10: 83,337,785 (GRCm39) T560I probably damaging Het
Arhgef25 A T 10: 127,020,266 (GRCm39) F384I probably damaging Het
Bptf T A 11: 106,943,679 (GRCm39) Q2671L probably damaging Het
Ccdc159 A G 9: 21,844,223 (GRCm39) E95G probably damaging Het
Cenpf A T 1: 189,385,385 (GRCm39) H2298Q probably benign Het
Chn2 G T 6: 54,246,467 (GRCm39) probably null Het
Csnk1g1 T C 9: 65,909,555 (GRCm39) L224P probably damaging Het
Cyp2c54 T A 19: 40,058,708 (GRCm39) K241N probably benign Het
Cyp2c55 G T 19: 38,999,485 (GRCm39) V64L probably damaging Het
Dlgap1 A C 17: 70,823,967 (GRCm39) Q317H probably damaging Het
Dnaja3 A G 16: 4,505,212 (GRCm39) D108G probably null Het
Dpagt1 G T 9: 44,243,390 (GRCm39) probably null Het
Dzip1 T C 14: 119,138,958 (GRCm39) R424G possibly damaging Het
Ero1b A G 13: 12,616,672 (GRCm39) K367R probably benign Het
Evi2 T C 11: 79,406,891 (GRCm39) Y228C probably benign Het
Exosc10 A T 4: 148,649,847 (GRCm39) I426L possibly damaging Het
Gba2 C T 4: 43,569,944 (GRCm39) R423Q probably damaging Het
Gm19965 A C 1: 116,730,854 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Gvin2 T C 7: 105,548,133 (GRCm39) K1640E possibly damaging Het
Hc A T 2: 34,879,182 (GRCm39) C1557S probably damaging Het
Hfm1 C T 5: 107,029,684 (GRCm39) S799N probably benign Het
Hivep1 A T 13: 42,337,696 (GRCm39) T2592S probably benign Het
Ighv8-5 G A 12: 115,031,200 (GRCm39) T113I probably benign Het
Il2rb A T 15: 78,370,006 (GRCm39) V211D probably damaging Het
Itgal A G 7: 126,900,105 (GRCm39) Y121C probably damaging Het
Kirrel1 T C 3: 86,992,138 (GRCm39) T597A possibly damaging Het
Lats1 A G 10: 7,581,279 (GRCm39) E688G probably damaging Het
Lbr C T 1: 181,644,539 (GRCm39) A589T possibly damaging Het
Limch1 G A 5: 67,131,908 (GRCm39) V133I probably benign Het
Mast2 C T 4: 116,164,407 (GRCm39) A1670T probably benign Het
Mtcl1 A T 17: 66,684,942 (GRCm39) L949Q probably benign Het
Nlrp4a T C 7: 26,159,219 (GRCm39) V833A probably benign Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or8g28 A T 9: 39,169,099 (GRCm39) Y290N probably damaging Het
Osgep C A 14: 51,155,334 (GRCm39) A75S probably damaging Het
Pank1 C A 19: 34,856,055 (GRCm39) R141L probably benign Het
Pcdhb20 T A 18: 37,638,307 (GRCm39) S278T probably benign Het
Pcdhgb8 C A 18: 37,896,365 (GRCm39) F478L probably benign Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Polr2a G A 11: 69,626,312 (GRCm39) P1613S probably benign Het
Pramel55 A C 5: 95,949,567 (GRCm39) M105L probably benign Het
Prom2 A C 2: 127,381,124 (GRCm39) S251A probably benign Het
R3hdm2 A G 10: 127,320,029 (GRCm39) H546R probably damaging Het
Reck G T 4: 43,891,011 (GRCm39) V50L probably benign Het
Rerg T C 6: 137,033,184 (GRCm39) T164A probably benign Het
Rho T A 6: 115,912,346 (GRCm39) probably null Het
Ric1 A G 19: 29,575,183 (GRCm39) T959A probably damaging Het
Slc28a3 T A 13: 58,724,609 (GRCm39) N215I possibly damaging Het
Slc2a5 G A 4: 150,210,119 (GRCm39) V35I probably benign Het
Srpk2 A T 5: 23,718,986 (GRCm39) S610T probably benign Het
Tasor2 A G 13: 3,625,079 (GRCm39) F1624L probably benign Het
Tmem147 T A 7: 30,427,656 (GRCm39) M86L probably benign Het
Trhde A G 10: 114,636,622 (GRCm39) V195A probably benign Het
Trio T C 15: 27,774,038 (GRCm39) S112G possibly damaging Het
U2af2 T C 7: 5,078,693 (GRCm39) V424A probably benign Het
Vmn2r27 T C 6: 124,201,200 (GRCm39) I252M probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp37 A G 4: 62,110,240 (GRCm39) C275R probably damaging Het
Zfp532 A T 18: 65,757,137 (GRCm39) I357F probably damaging 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
R4987:Hibadh UTSW 6 52,599,880 (GRCm39) missense probably damaging 1.00
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
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'- GCTCAGGAGGCAGTTACAAG -3'
(R):5'- GATTGGACTGTTCCCGACTC -3'

Sequencing Primer
(F):5'- CAGTTACAAGGGGGCCCAG -3'
(R):5'- TCTCAACACAGTGCTCCGC -3'
Posted On 2021-01-18