Incidental Mutation 'R4616:Adh6a'
ID 351031
Institutional Source Beutler Lab
Gene Symbol Adh6a
Ensembl Gene ENSMUSG00000053054
Gene Name alcohol dehydrogenase 6A (class V)
Synonyms 1810009C16Rik, Adh5a
MMRRC Submission 041827-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138313286-138331134 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138324947 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 110 (N110I)
Ref Sequence ENSEMBL: ENSMUSP00000101854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013455] [ENSMUST00000106247]
AlphaFold E9Q5Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000013455
AA Change: N110I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013455
Gene: ENSMUSG00000053054
AA Change: N110I

DomainStartEndE-ValueType
Pfam:ADH_N 34 161 3.9e-27 PFAM
Pfam:ADH_zinc_N 203 334 1.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106247
AA Change: N110I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101854
Gene: ENSMUSG00000053054
AA Change: N110I

DomainStartEndE-ValueType
Pfam:ADH_N 34 161 6.1e-25 PFAM
Pfam:ADH_zinc_N 203 334 2.4e-20 PFAM
Meta Mutation Damage Score 0.8718 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik G A 13: 63,298,751 E123K probably damaging Het
4931417E11Rik A G 6: 73,469,269 V99A probably benign Het
Acod1 C T 14: 103,055,345 T435M probably benign Het
Adgrf5 T C 17: 43,452,440 F1078L probably benign Het
Aldh16a1 T C 7: 45,148,788 probably benign Het
Arhgef17 A G 7: 100,882,485 F1302S probably damaging Het
Bcl2a1a C T 9: 88,957,453 R135W probably damaging Het
Bpifa6 T C 2: 153,982,988 S28P possibly damaging Het
C9 A G 15: 6,491,463 D51G probably damaging Het
Cfb T A 17: 34,859,068 H962L probably benign Het
Chn2 G A 6: 54,290,403 M292I probably damaging Het
Clec16a T A 16: 10,644,883 probably null Het
Cyp1a1 T C 9: 57,701,756 S307P probably benign Het
Dsg3 T C 18: 20,531,559 V538A probably benign Het
Erbb3 G A 10: 128,572,770 Q815* probably null Het
Fam90a1a C A 8: 21,963,846 Q406K possibly damaging Het
Frmd3 T C 4: 74,187,872 V585A probably benign Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Gm8214 T C 1: 183,681,897 noncoding transcript Het
Gpld1 G A 13: 24,984,816 G771D probably damaging Het
Gpr20 T C 15: 73,695,736 N268S probably benign Het
Gria2 A T 3: 80,706,897 I612N probably damaging Het
Ifit1bl1 T C 19: 34,594,610 E149G probably damaging Het
Ighv1-82 T C 12: 115,952,660 T77A probably benign Het
Ighv2-9 G T 12: 113,879,219 T76K probably damaging Het
Igkv6-13 A T 6: 70,458,035 M1K probably null Het
Igkv8-21 A T 6: 70,315,157 S34T probably benign Het
Itpr1 A G 6: 108,481,223 N1985D probably damaging Het
Lama3 T C 18: 12,504,397 probably null Het
Lamc2 T C 1: 153,166,169 Y73C probably damaging Het
Maff A G 15: 79,357,698 D105G probably damaging Het
Mep1a C T 17: 43,486,241 V312M possibly damaging Het
Mfap4 C A 11: 61,485,509 probably benign Het
Mrgbp A T 2: 180,585,314 silent Het
Mtmr4 T C 11: 87,610,935 L548S probably damaging Het
Myo7b T C 18: 32,003,487 probably null Het
Myo9a T C 9: 59,821,649 I596T probably damaging Het
Olfr38 G T 6: 42,762,418 R122L probably benign Het
Olfr594 C T 7: 103,220,422 R235* probably null Het
Pcsk5 T G 19: 17,560,750 Q904H probably benign Het
Pdzrn3 G T 6: 101,152,009 H565Q probably damaging Het
Phkg2 C T 7: 127,577,620 R61W probably damaging Het
Pkd2l1 C A 19: 44,154,134 A490S probably damaging Het
Pomgnt1 T A 4: 116,154,890 I337N probably damaging Het
Psmd3 T C 11: 98,682,926 V66A probably benign Het
Ptger3 T C 3: 157,567,294 S93P probably damaging Het
Rbm27 T A 18: 42,301,775 D301E probably damaging Het
Rdh16 A T 10: 127,801,513 probably null Het
Slc35a5 A T 16: 45,144,292 F193I probably benign Het
Slc4a4 A G 5: 89,038,561 K167R probably damaging Het
Sort1 A T 3: 108,355,541 T772S possibly damaging Het
Sptbn5 T A 2: 120,048,757 noncoding transcript Het
Stard5 G T 7: 83,633,281 probably benign Het
Tbc1d22a A G 15: 86,235,685 T61A probably damaging Het
Tox2 T C 2: 163,320,647 L479P probably damaging Het
Usp53 A T 3: 122,959,120 M80K probably damaging Het
Vmn1r209 A T 13: 22,805,965 L185Q probably damaging Het
Vmn2r59 A G 7: 42,012,438 I651T probably benign Het
Vsig1 G T X: 140,926,386 A95S probably benign Het
Zfhx4 T C 3: 5,413,067 S3556P possibly damaging 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
IGL03162:Adh6a APN 3 138329119 nonsense probably null
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
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
R8377:Adh6a UTSW 3 138326123 missense probably damaging 1.00
R8475:Adh6a UTSW 3 138325218 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGCTGTCATCTGTCCGTAG -3'
(R):5'- TAAATCTTCTGTCCTCGGCAGG -3'

Sequencing Primer
(F):5'- CCGTAGCATGTTTTCAAGAGAATGG -3'
(R):5'- TCCTCGGCAGGAAAACCG -3'
Posted On 2015-10-08