Incidental Mutation 'R5878:Abhd6'
ID 455672
Institutional Source Beutler Lab
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
MMRRC Submission 044084-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5878 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8028286 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 6 (V6I)
Ref Sequence ENSEMBL: ENSMUSP00000129169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]
AlphaFold Q8R2Y0
Predicted Effect probably benign
Transcript: ENSMUST00000026313
AA Change: V6I

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: V6I

DomainStartEndE-ValueType
Pfam:Hydrolase_4 68 313 6.4e-17 PFAM
Pfam:Abhydrolase_1 72 193 3.8e-17 PFAM
Pfam:Abhydrolase_5 73 307 1e-17 PFAM
Pfam:Abhydrolase_6 74 319 9e-22 PFAM
Pfam:Abhydrolase_1 222 313 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166497
AA Change: V6I

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: V6I

DomainStartEndE-ValueType
Pfam:Lipase 51 183 1.1e-8 PFAM
Pfam:Abhydrolase_5 73 307 8e-18 PFAM
Pfam:Abhydrolase_6 74 319 1.7e-39 PFAM
Pfam:Abhydrolase_1 98 322 3.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225234
Meta Mutation Damage Score 0.0574 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,385,792 (GRCm39) N275K possibly damaging Het
Afap1l2 T C 19: 56,904,107 (GRCm39) T727A probably benign Het
Aggf1 T C 13: 95,506,065 (GRCm39) E174G probably benign Het
Ahnak T G 19: 8,985,706 (GRCm39) L2330R probably damaging Het
Arb2a T A 13: 78,100,186 (GRCm39) V129E probably damaging Het
Arfgef2 A G 2: 166,712,137 (GRCm39) T1205A probably benign Het
Ccdc3 T C 2: 5,233,827 (GRCm39) L217P probably benign Het
Cfap54 T C 10: 92,800,423 (GRCm39) D1595G probably benign Het
Cps1 G T 1: 67,197,037 (GRCm39) probably null Het
Fam120b A G 17: 15,622,502 (GRCm39) D160G probably damaging Het
Fezf1 C A 6: 23,247,580 (GRCm39) R165L possibly damaging Het
Fkbp15 A T 4: 62,225,145 (GRCm39) L838H probably benign Het
Frmd3 G A 4: 74,071,847 (GRCm39) G243D probably damaging Het
Gldc A T 19: 30,120,867 (GRCm39) probably null Het
Gm10188 T C 1: 132,156,940 (GRCm39) probably benign Het
Gm5190 T A 12: 113,360,859 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,208,628 (GRCm39) probably null Het
Hdhd5 A G 6: 120,491,485 (GRCm39) L206P probably damaging Het
Herc2 A G 7: 55,773,996 (GRCm39) N1149S probably benign Het
Inca1 G A 11: 70,586,808 (GRCm39) probably benign Het
Iqch G A 9: 63,455,272 (GRCm39) S175F probably damaging Het
Itpr3 T G 17: 27,329,836 (GRCm39) D1543E probably benign Het
Khk T A 5: 31,088,219 (GRCm39) probably null Het
Kiz C T 2: 146,731,521 (GRCm39) S337L probably damaging Het
Lzts3 G A 2: 130,478,459 (GRCm39) T213I probably damaging Het
Mab21l2 T A 3: 86,454,025 (GRCm39) D325V probably damaging Het
Mctp2 A G 7: 71,863,856 (GRCm39) S336P probably benign Het
Me3 T A 7: 89,497,214 (GRCm39) L405Q probably benign Het
Mgst2 A T 3: 51,568,651 (GRCm39) probably benign Het
Myh2 A G 11: 67,083,330 (GRCm39) E1431G probably damaging Het
Naip6 A G 13: 100,436,181 (GRCm39) S781P probably damaging Het
Nr3c2 A G 8: 77,634,897 (GRCm39) probably null Het
Or10ab5 A T 7: 108,244,946 (GRCm39) L279Q probably damaging Het
Or6s1 A G 14: 51,308,449 (GRCm39) Y134H probably damaging Het
Or6x1 C T 9: 40,098,867 (GRCm39) T152I probably benign Het
Otop1 G T 5: 38,435,166 (GRCm39) R132L possibly damaging Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pcdhga4 G T 18: 37,820,739 (GRCm39) G763W probably benign Het
Pde10a A G 17: 9,168,204 (GRCm39) N9S possibly damaging Het
Pi4k2a T C 19: 42,089,080 (GRCm39) I147T probably benign Het
Polh T A 17: 46,505,251 (GRCm39) T122S probably damaging Het
Ptpn13 T C 5: 103,624,984 (GRCm39) V96A possibly damaging Het
Ptpn6 C A 6: 124,705,748 (GRCm39) C132F probably damaging Het
Rbm19 T A 5: 120,270,932 (GRCm39) V585E probably damaging Het
Relch T A 1: 105,620,685 (GRCm39) S387T probably benign Het
Rp1l1 C T 14: 64,266,355 (GRCm39) P647L probably benign Het
Rrp1b A G 17: 32,266,649 (GRCm39) E72G probably damaging Het
Shcbp1 A T 8: 4,798,742 (GRCm39) H392Q probably benign Het
Skic2 C T 17: 35,065,093 (GRCm39) R371Q possibly damaging Het
Slc13a5 G A 11: 72,144,217 (GRCm39) T287I possibly damaging Het
Slc22a27 T A 19: 7,904,122 (GRCm39) E5V probably benign Het
Slc38a2 A G 15: 96,590,465 (GRCm39) V293A probably damaging Het
Slco6d1 T A 1: 98,391,561 (GRCm39) probably benign Het
Sri G C 5: 8,109,353 (GRCm39) D46H probably damaging Het
Tango6 A G 8: 107,415,800 (GRCm39) D207G possibly damaging Het
Tigd4 T C 3: 84,501,749 (GRCm39) M222T probably benign Het
Tmem229a T C 6: 24,955,172 (GRCm39) D194G probably benign Het
Trank1 T C 9: 111,195,753 (GRCm39) V1259A possibly damaging Het
Trdv5 T C 14: 54,386,255 (GRCm39) D70G probably benign Het
Trim52 T A 14: 106,344,375 (GRCm39) M11K probably damaging Het
Wdr62 A G 7: 29,940,772 (GRCm39) M882T probably benign Het
Ybx3 A G 6: 131,344,726 (GRCm39) probably null Het
Zfand2b A G 1: 75,147,154 (GRCm39) probably benign Het
Zfp91 T A 19: 12,747,684 (GRCm39) T480S possibly damaging Het
Other mutations in Abhd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Abhd6 APN 14 8,039,849 (GRCm38) missense probably damaging 0.96
R1757:Abhd6 UTSW 14 8,049,867 (GRCm38) missense probably damaging 1.00
R2011:Abhd6 UTSW 14 8,042,742 (GRCm38) missense probably benign 0.07
R2425:Abhd6 UTSW 14 8,049,857 (GRCm38) missense probably benign 0.29
R3810:Abhd6 UTSW 14 8,045,603 (GRCm38) missense probably benign 0.01
R4809:Abhd6 UTSW 14 8,039,771 (GRCm38) start codon destroyed probably null 1.00
R5841:Abhd6 UTSW 14 8,049,596 (GRCm38) missense probably benign 0.02
R6439:Abhd6 UTSW 14 8,055,589 (GRCm38) missense probably damaging 1.00
R6582:Abhd6 UTSW 14 8,042,828 (GRCm38) critical splice donor site probably null
R6582:Abhd6 UTSW 14 8,042,826 (GRCm38) missense probably damaging 1.00
R6924:Abhd6 UTSW 14 8,049,850 (GRCm38) missense possibly damaging 0.71
R7684:Abhd6 UTSW 14 8,039,807 (GRCm38) missense probably damaging 1.00
R7844:Abhd6 UTSW 14 8,039,792 (GRCm38) missense probably benign 0.22
R8093:Abhd6 UTSW 14 8,028,353 (GRCm38) missense probably damaging 0.98
R8992:Abhd6 UTSW 14 8,028,282 (GRCm38) missense probably benign 0.10
R9499:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9552:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9601:Abhd6 UTSW 14 8,049,808 (GRCm38) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TACCCTGGAGTGTTGATTGCC -3'
(R):5'- TGACAAGCAACAATGGCCAG -3'

Sequencing Primer
(F):5'- GAAAGGTTCTCCCAAGTCTGC -3'
(R):5'- CAACAATGGCCAGGACAAAGTG -3'
Posted On 2017-02-10