Incidental Mutation 'R6439:Abhd6'
ID 518944
Institutional Source Beutler Lab
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
MMRRC Submission 044577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6439 (G1)
Quality Score 219.009
Status Validated
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8055589 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 272 (L272P)
Ref Sequence ENSEMBL: ENSMUSP00000153068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]
AlphaFold Q8R2Y0
Predicted Effect probably damaging
Transcript: ENSMUST00000026313
AA Change: L319P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: L319P

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 damaging
Transcript: ENSMUST00000166497
AA Change: L319P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: L319P

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 damaging
Transcript: ENSMUST00000225234
AA Change: L272P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik T C 15: 57,895,444 (GRCm39) D18G probably null Het
A530064D06Rik A G 17: 48,473,653 (GRCm39) V88A probably damaging Het
Adam25 C T 8: 41,207,627 (GRCm39) R298C possibly damaging Het
Adam34l T C 8: 44,078,988 (GRCm39) N412S probably damaging Het
Afap1l2 T C 19: 56,916,818 (GRCm39) N219D possibly damaging Het
Brd3 A G 2: 27,353,938 (GRCm39) F58S probably damaging Het
Ceacam3 G A 7: 16,892,253 (GRCm39) R332H possibly damaging Het
Cfap57 C A 4: 118,446,172 (GRCm39) probably null Het
Chd2 A G 7: 73,130,154 (GRCm39) F834L probably damaging Het
Crocc2 A G 1: 93,111,126 (GRCm39) K140E possibly damaging Het
Fam117b A G 1: 60,020,731 (GRCm39) T534A probably benign Het
Fchsd1 C T 18: 38,102,487 (GRCm39) V14I probably damaging Het
Grid2ip A T 5: 143,359,257 (GRCm39) E291V probably damaging Het
Hbp1 A G 12: 31,987,720 (GRCm39) L146S probably damaging Het
Hr A G 14: 70,799,276 (GRCm39) D616G possibly damaging Het
Igfbp5 A C 1: 72,902,300 (GRCm39) probably null Het
Jak2 C T 19: 29,287,022 (GRCm39) probably null Het
Mpl T C 4: 118,305,750 (GRCm39) D425G probably damaging Het
Ms4a4c T C 19: 11,398,676 (GRCm39) S165P probably benign Het
Mycbp2 A G 14: 103,392,911 (GRCm39) S3217P probably benign Het
Nfatc3 T A 8: 106,810,502 (GRCm39) L426* probably null Het
Or4f47 T C 2: 111,972,509 (GRCm39) V73A probably benign Het
Or5ak24 T C 2: 85,261,068 (GRCm39) Y35C probably damaging Het
Or7a42 T A 10: 78,791,818 (GRCm39) Y260N probably damaging Het
Phf1 G T 17: 27,155,586 (GRCm39) V384L probably benign Het
Rangap1 T C 15: 81,596,336 (GRCm39) T259A probably benign Het
Rec8 A G 14: 55,856,076 (GRCm39) N6S possibly damaging Het
Rmdn2 G A 17: 79,934,971 (GRCm39) probably benign Het
Scin T C 12: 40,118,945 (GRCm39) Y617C probably damaging Het
Ttc13 T C 8: 125,400,221 (GRCm39) S744G probably benign Het
Ttc14 T C 3: 33,862,968 (GRCm39) probably benign Het
Uggt1 T C 1: 36,214,032 (GRCm39) E219G possibly damaging Het
Vmn1r183 A G 7: 23,754,704 (GRCm39) D169G possibly damaging Het
Vmn1r72 A T 7: 11,413,064 (GRCm39) probably null Het
Zfp326 T G 5: 106,036,584 (GRCm39) M76R probably null 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
R5878:Abhd6 UTSW 14 8,028,286 (GRCm38) missense probably benign 0.13
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'- AGCAGGAAGTCACACTGTAC -3'
(R):5'- GCTCTGTGGAACCAAGGATAC -3'

Sequencing Primer
(F):5'- GGCAGACATATTAGCCAAG -3'
(R):5'- AACTGGCTTCCTCAGGGCTG -3'
Posted On 2018-05-24