Incidental Mutation 'IGL03162:Adh6a'
ID411478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adh6a
Ensembl Gene ENSMUSG00000053054
Gene Namealcohol dehydrogenase 6A (class V)
Synonyms1810009C16Rik, Adh5a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL03162
Quality Score
Status
Chromosome3
Chromosomal Location138313286-138331134 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 138329119 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 336 (Y336*)
Ref Sequence ENSEMBL: ENSMUSP00000101854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013455] [ENSMUST00000106247]
Predicted Effect probably null
Transcript: ENSMUST00000013455
AA Change: Y336*
SMART Domains Protein: ENSMUSP00000013455
Gene: ENSMUSG00000053054
AA Change: Y336*

DomainStartEndE-ValueType
Pfam:ADH_N 34 161 3.9e-27 PFAM
Pfam:ADH_zinc_N 203 334 1.2e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106247
AA Change: Y336*
SMART Domains Protein: ENSMUSP00000101854
Gene: ENSMUSG00000053054
AA Change: Y336*

DomainStartEndE-ValueType
Pfam:ADH_N 34 161 6.1e-25 PFAM
Pfam:ADH_zinc_N 203 334 2.4e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign Het
Other mutations in Adh6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Adh6a APN 3 138313336 utr 5 prime probably benign
IGL02535:Adh6a APN 3 138327390 missense probably benign
IGL02942:Adh6a APN 3 138324881 missense probably damaging 1.00
R0785:Adh6a UTSW 3 138329068 splice site probably benign
R1809:Adh6a UTSW 3 138330961 missense possibly damaging 0.68
R2065:Adh6a UTSW 3 138325237 missense probably benign 0.05
R2269:Adh6a UTSW 3 138329096 missense probably benign 0.03
R3834:Adh6a UTSW 3 138327514 critical splice donor site probably null
R3835:Adh6a UTSW 3 138327514 critical splice donor site probably null
R4616:Adh6a UTSW 3 138324947 missense probably damaging 1.00
R4652:Adh6a UTSW 3 138326115 missense probably benign 0.00
R4690:Adh6a UTSW 3 138326171 missense possibly damaging 0.50
R5481:Adh6a UTSW 3 138325958 missense probably damaging 1.00
R8152:Adh6a UTSW 3 138327514 critical splice donor site probably null
Posted On2016-08-02