Incidental Mutation 'IGL02934:Ldhal6b'
ID364213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldhal6b
Ensembl Gene ENSMUSG00000101959
Gene Namelactate dehydrogenase A-like 6B
SynonymsLDHAL, 4933402O15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL02934
Quality Score
Status
Chromosome17
Chromosomal Location5417323-5418767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5417544 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 372 (T372A)
Ref Sequence ENSEMBL: ENSMUSP00000139572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005053] [ENSMUST00000189788]
Predicted Effect probably benign
Transcript: ENSMUST00000005053
SMART Domains Protein: ENSMUSP00000005053
Gene: ENSMUSG00000004945

DomainStartEndE-ValueType
Pfam:DUF1358 9 123 2.9e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175169
Predicted Effect probably benign
Transcript: ENSMUST00000189788
AA Change: T372A

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139572
Gene: ENSMUSG00000101959
AA Change: T372A

DomainStartEndE-ValueType
Pfam:Ldh_1_N 71 210 4.7e-47 PFAM
Pfam:Ldh_1_C 213 382 5e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190865
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cog3 T C 14: 75,741,689 I206V probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Ctdspl2 T C 2: 121,979,009 V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Fut1 A G 7: 45,618,703 H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Perp A T 10: 18,855,772 T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Spdya A T 17: 71,556,400 N48I probably benign Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Ldhal6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4702:Ldhal6b UTSW 17 5418307 missense probably damaging 1.00
R5747:Ldhal6b UTSW 17 5417819 missense probably damaging 1.00
R7260:Ldhal6b UTSW 17 5418260 missense possibly damaging 0.72
R7609:Ldhal6b UTSW 17 5417991 missense probably benign 0.06
R7724:Ldhal6b UTSW 17 5418602 missense probably benign
Posted On2015-12-18