Incidental Mutation 'R4379:Hibadh'
ID325238
Institutional Source Beutler Lab
Gene Symbol Hibadh
Ensembl Gene ENSMUSG00000029776
Gene Name3-hydroxyisobutyrate dehydrogenase
Synonyms
MMRRC Submission 041677-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4379 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location52546228-52640389 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 52620042 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 139 (S139L)
Ref Sequence ENSEMBL: ENSMUSP00000031788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031788]
Predicted Effect probably damaging
Transcript: ENSMUST00000031788
AA Change: S139L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: S139L

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 0.2091 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (53/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,865,875 H1252Q probably benign Het
Adcy3 T C 12: 4,134,558 L78P probably damaging Het
Agmat G T 4: 141,757,491 A282S probably benign Het
Akap8 G T 17: 32,306,560 T515K probably damaging Het
Akap8l T C 17: 32,321,514 probably benign Het
Alpk1 C T 3: 127,729,373 V7M probably damaging Het
AW209491 T C 13: 14,637,827 *422Q probably null Het
Cdan1 A G 2: 120,726,618 F576L probably damaging Het
Cers5 A G 15: 99,751,253 F45L probably damaging Het
Dst T C 1: 34,163,235 S215P probably damaging Het
Dst A G 1: 34,227,975 I5011V probably benign Het
En1 A G 1: 120,603,355 N108S possibly damaging Het
Fam189b A T 3: 89,185,757 D274V probably damaging Het
Fancd2 T C 6: 113,561,716 S591P probably benign Het
Glt1d1 T C 5: 127,694,282 V279A possibly damaging Het
Gm10051 C T 5: 133,475,448 noncoding transcript Het
Gpr158 G T 2: 21,825,214 G690V probably damaging Het
Grm7 G T 6: 110,646,348 V161F probably damaging Het
Grm7 T A 6: 111,246,374 N458K probably benign Het
Hivep1 C T 13: 42,155,430 S382F probably damaging Het
Ift74 A G 4: 94,679,934 N403D probably benign Het
Igkv4-81 A G 6: 68,990,949 L56S probably damaging Het
Igsf9b G A 9: 27,309,478 V47I possibly damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Lmbr1l G T 15: 98,909,263 C212* probably null Het
Lrp10 C T 14: 54,468,366 R338C probably damaging Het
Lrrc34 A G 3: 30,631,375 L275P probably damaging Het
Mgam2-ps T C 6: 40,833,859 noncoding transcript Het
Mief1 T G 15: 80,247,959 M77R possibly damaging Het
Neurod6 T C 6: 55,679,272 T127A probably damaging Het
Nif3l1 A C 1: 58,455,579 probably benign Het
Nlrp12 T A 7: 3,239,924 T653S probably benign Het
Nol7 G T 13: 43,401,575 W228L probably damaging Het
Nrp1 G A 8: 128,468,467 R468H probably damaging Het
Olfr194 C T 16: 59,119,664 M135I probably benign Het
Olfr854 A G 9: 19,566,742 L211P probably benign Het
Pbrm1 A T 14: 31,067,706 H785L probably damaging Het
Pus7 T C 5: 23,748,866 probably benign Het
Qser1 G T 2: 104,766,059 probably null Het
Rrm1 T C 7: 102,446,593 V51A probably damaging Het
Setbp1 T C 18: 79,086,681 N112S probably damaging Het
Svil C T 18: 5,046,909 H52Y probably damaging Het
Taf1d T A 9: 15,311,981 probably benign Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,118,163 probably benign Het
Treml1 A G 17: 48,360,396 Y103C probably damaging Het
Trim28 A T 7: 13,029,480 D516V probably damaging Het
Usp34 T A 11: 23,384,499 N1164K possibly damaging Het
Vmn2r115 A G 17: 23,345,223 Y123C possibly damaging Het
Vrk3 C T 7: 44,775,442 T427M probably benign Het
Zfp28 C T 7: 6,393,442 T292I probably benign Het
Zmynd8 A T 2: 165,807,938 probably null Het
Zscan4d A G 7: 11,164,978 V124A probably benign Het
Other mutations in Hibadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Hibadh APN 6 52548889 missense possibly damaging 0.93
IGL03116:Hibadh APN 6 52548932 missense probably damaging 1.00
R0103:Hibadh UTSW 6 52557877 missense probably benign 0.25
R0103:Hibadh UTSW 6 52557877 missense probably benign 0.25
R0468:Hibadh UTSW 6 52557770 splice site probably benign
R0800:Hibadh UTSW 6 52556505 missense probably damaging 1.00
R1950:Hibadh UTSW 6 52556463 missense probably benign 0.10
R4614:Hibadh UTSW 6 52546930 missense possibly damaging 0.85
R4987:Hibadh UTSW 6 52622895 missense probably damaging 1.00
R5073:Hibadh UTSW 6 52620094 missense possibly damaging 0.90
R5074:Hibadh UTSW 6 52620094 missense possibly damaging 0.90
R5402:Hibadh UTSW 6 52546980 missense probably benign 0.32
R6390:Hibadh UTSW 6 52556489 missense probably damaging 1.00
R6575:Hibadh UTSW 6 52547028 missense probably damaging 1.00
R7360:Hibadh UTSW 6 52640212 missense probably benign
Z1177:Hibadh UTSW 6 52619995 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGCCAGTCTGTTCTGTTG -3'
(R):5'- CTGTTTCAGTACCAGGCCAC -3'

Sequencing Primer
(F):5'- ATGCCAGTCTGTTCTGTTGTTATC -3'
(R):5'- ACAGGCCTCCTTGACGGTC -3'
Posted On2015-07-06