Incidental Mutation 'R3003:Adh6b'
ID 257358
Institutional Source Beutler Lab
Gene Symbol Adh6b
Ensembl Gene ENSMUSG00000074206
Gene Name alcohol dehydrogenase 6B (class V)
Synonyms Adh5b
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 138047536-138064622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 138063532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 248 (L248F)
Ref Sequence ENSEMBL: ENSMUSP00000148627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090166] [ENSMUST00000199673]
AlphaFold A0A1D5RMB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000090166
AA Change: L248F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087628
Gene: ENSMUSG00000074206
AA Change: L248F

DomainStartEndE-ValueType
Pfam:ADH_zinc_N 88 220 7.8e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090166
AA Change: L248F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000199673
AA Change: L370F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Clptm1l C T 13: 73,765,875 (GRCm39) T471I possibly damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Other mutations in Adh6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Adh6b UTSW 3 138,058,545 (GRCm39) missense possibly damaging 0.57
R0538:Adh6b UTSW 3 138,063,411 (GRCm39) missense probably benign 0.03
R5123:Adh6b UTSW 3 138,063,450 (GRCm39) missense probably damaging 1.00
R6101:Adh6b UTSW 3 138,063,471 (GRCm39) missense possibly damaging 0.94
R6105:Adh6b UTSW 3 138,063,471 (GRCm39) missense possibly damaging 0.94
R7556:Adh6b UTSW 3 138,058,546 (GRCm39) missense probably damaging 0.99
R7558:Adh6b UTSW 3 138,058,297 (GRCm39) missense probably benign 0.01
R8725:Adh6b UTSW 3 138,058,729 (GRCm39) missense probably damaging 0.99
R8727:Adh6b UTSW 3 138,058,729 (GRCm39) missense probably damaging 0.99
R8829:Adh6b UTSW 3 138,055,463 (GRCm39) missense probably benign 0.00
R8832:Adh6b UTSW 3 138,055,463 (GRCm39) missense probably benign 0.00
R8939:Adh6b UTSW 3 138,055,397 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CACTGGAATCTTCAGTCAGATTTG -3'
(R):5'- GACATATTGCAGTTGAGGCTGG -3'

Sequencing Primer
(F):5'- AGTCAGATTTGATATGTTTCACATCC -3'
(R):5'- CTCATCAGGCAGGTTAATTGC -3'
Posted On 2015-01-11