Incidental Mutation 'R7844:Abhd6'
ID 606534
Institutional Source Beutler Lab
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
MMRRC Submission 045898-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7844 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 8039792 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 55 (H55P)
Ref Sequence ENSEMBL: ENSMUSP00000026313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]
AlphaFold Q8R2Y0
Predicted Effect probably benign
Transcript: ENSMUST00000026313
AA Change: H55P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: H55P

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: H55P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: H55P

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
AA Change: H8P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,423 (GRCm39) E65G unknown Het
Aadacl2fm2 A T 3: 59,637,318 (GRCm39) I27F probably benign Het
Abcg5 A T 17: 84,981,018 (GRCm39) N190K possibly damaging Het
Acox3 A T 5: 35,764,492 (GRCm39) Q535L probably benign Het
Adora1 A G 1: 134,131,276 (GRCm39) W132R probably damaging Het
Armc3 A G 2: 19,258,829 (GRCm39) I299V possibly damaging Het
Atp11a A G 8: 12,901,039 (GRCm39) D956G possibly damaging Het
Bptf C A 11: 106,964,887 (GRCm39) V1436F probably damaging Het
Brd9 A G 13: 74,086,652 (GRCm39) Y51C probably damaging Het
Cdh18 T C 15: 23,410,873 (GRCm39) W453R probably damaging Het
Cfap54 T C 10: 92,737,920 (GRCm39) Q2326R unknown Het
Col4a2 G T 8: 11,475,453 (GRCm39) E626* probably null Het
Dpp8 A G 9: 64,952,949 (GRCm39) I208M probably damaging Het
Evi5 T C 5: 108,022,860 (GRCm39) R16G probably benign Het
Gabrg1 T C 5: 70,931,675 (GRCm39) Y356C probably damaging Het
Gbp7 G T 3: 142,242,147 (GRCm39) V94L probably benign Het
Gm4884 A C 7: 40,690,122 (GRCm39) Q6P probably benign Het
Gm9767 A T 10: 25,954,255 (GRCm39) probably benign Het
Gopc T C 10: 52,215,845 (GRCm39) S448G possibly damaging Het
Gpr15 A T 16: 58,538,873 (GRCm39) I72N probably damaging Het
Hsd17b11 T A 5: 104,166,132 (GRCm39) T76S probably damaging Het
Inhbe A G 10: 127,186,779 (GRCm39) S134P possibly damaging Het
Inpp4b G A 8: 82,467,949 (GRCm39) probably benign Het
Ipo9 A G 1: 135,322,062 (GRCm39) V556A probably benign Het
Klhdc2 T A 12: 69,349,180 (GRCm39) F106I probably damaging Het
Krt7 G A 15: 101,310,515 (GRCm39) G54D possibly damaging Het
Mecom T G 3: 30,063,973 (GRCm39) Y39S unknown Het
Mrpl49 C T 19: 6,105,200 (GRCm39) R87H probably damaging Het
Nfat5 A G 8: 108,085,300 (GRCm39) D531G probably damaging Het
Nlrp9a A T 7: 26,262,006 (GRCm39) K718N possibly damaging Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or52d1 T G 7: 103,755,690 (GRCm39) L68W probably damaging Het
Pigu A C 2: 155,134,640 (GRCm39) Y388* probably null Het
Pirb A T 7: 3,722,410 (GRCm39) C144* probably null Het
Pkm A G 9: 59,578,005 (GRCm39) H274R probably benign Het
Plch2 C A 4: 155,073,922 (GRCm39) D927Y probably damaging Het
Rock1 T G 18: 10,104,173 (GRCm39) K596Q probably damaging Het
Scaper A T 9: 55,722,732 (GRCm39) M692K probably benign Het
Serpine1 C A 5: 137,100,043 (GRCm39) G39* probably null Het
Serpine2 T C 1: 79,794,516 (GRCm39) Q139R probably benign Het
Sipa1l1 C A 12: 82,444,267 (GRCm39) R993S probably damaging Het
Slc12a9 T C 5: 137,330,448 (GRCm39) T86A probably damaging Het
Slc30a6 G A 17: 74,711,088 (GRCm39) probably null Het
Snrnp48 A G 13: 38,393,965 (GRCm39) E90G probably null Het
Spaca7b A T 8: 11,706,174 (GRCm39) I120K probably benign Het
Spdl1 A T 11: 34,704,170 (GRCm39) N554K possibly damaging Het
Spon1 G A 7: 113,629,567 (GRCm39) V404I probably benign Het
Tada3 C T 6: 113,347,921 (GRCm39) R300H probably benign Het
Tcl1b5 G A 12: 105,142,815 (GRCm39) probably null Het
Tdrd9 A G 12: 111,964,386 (GRCm39) Y336C possibly damaging Het
Timm44 A G 8: 4,319,976 (GRCm39) L64P possibly damaging Het
Tpo A G 12: 30,150,404 (GRCm39) L492P probably damaging Het
Trip11 T G 12: 101,844,403 (GRCm39) Q1565P probably damaging Het
Trpm2 A G 10: 77,759,340 (GRCm39) I1148T probably benign Het
Tshz1 T C 18: 84,032,296 (GRCm39) E704G probably benign Het
Tysnd1 C T 10: 61,537,944 (GRCm39) R541* 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
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
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'- TCTTCTTAGTGCCCCTGGAG -3'
(R):5'- TGTGACACATACAAGGGTCTG -3'

Sequencing Primer
(F):5'- CCTGGAGGGTAAAGGACAAGAGC -3'
(R):5'- AGCCACATGTCCTTGTGT -3'
Posted On 2019-12-20