Incidental Mutation 'R1757:Abhd6'
ID 195007
Institutional Source Beutler Lab
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
MMRRC Submission 039789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1757 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8049867 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 219 (I219F)
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: I266F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: I266F

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: I266F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: I266F

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: I219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5495 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 100% (111/111)
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,096,703 (GRCm39) I207V possibly damaging Het
Adamtsl4 T C 3: 95,585,252 (GRCm39) T839A probably benign Het
Akap1 C T 11: 88,736,578 (GRCm39) R61H probably damaging Het
Akap9 A G 5: 4,051,667 (GRCm39) D1478G probably benign Het
Aloxe3 T A 11: 69,026,775 (GRCm39) V547E possibly damaging Het
Ano6 G A 15: 95,860,148 (GRCm39) A757T probably damaging Het
Armc10 A G 5: 21,858,455 (GRCm39) T167A probably damaging Het
BB019430 A C 10: 58,539,869 (GRCm39) noncoding transcript Het
Brms1 C T 19: 5,096,435 (GRCm39) R82W probably damaging Het
Btnl6 G A 17: 34,733,062 (GRCm39) T267I probably benign Het
Catsper4 A T 4: 133,945,212 (GRCm39) F215L probably benign Het
Ccdc188 T C 16: 18,036,552 (GRCm39) F197S probably damaging Het
Cers5 A C 15: 99,634,212 (GRCm39) C379G probably benign Het
Chchd6 A G 6: 89,361,626 (GRCm39) L259P probably damaging Het
Cntnap2 T A 6: 46,736,763 (GRCm39) C730S probably damaging Het
Coch T G 12: 51,649,631 (GRCm39) V314G probably damaging Het
Cog1 T A 11: 113,543,130 (GRCm39) S213T possibly damaging Het
Crot A T 5: 9,037,828 (GRCm39) F163I probably damaging Het
Cyp4f13 A T 17: 33,148,932 (GRCm39) I162N probably damaging Het
Dab2 A T 15: 6,359,933 (GRCm39) probably benign Het
Depdc1b C T 13: 108,460,482 (GRCm39) R31W probably damaging Het
Dlk1 T C 12: 109,425,613 (GRCm39) F161S probably damaging Het
Dnah6 T C 6: 73,137,965 (GRCm39) E913G probably damaging Het
Dnajc6 A G 4: 101,455,028 (GRCm39) Y5C probably damaging Het
Dock10 T C 1: 80,511,586 (GRCm39) T1508A probably damaging Het
Dstyk A G 1: 132,361,832 (GRCm39) probably benign Het
Efcc1 T C 6: 87,726,265 (GRCm39) probably benign Het
Entpd1 T C 19: 40,727,450 (GRCm39) Y533H probably benign Het
Epha8 A T 4: 136,658,789 (GRCm39) probably null Het
Erich3 C T 3: 154,401,402 (GRCm39) T17M probably damaging Het
Ethe1 T C 7: 24,307,899 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,386,347 (GRCm39) M211K probably damaging Het
Fhod3 G A 18: 25,199,335 (GRCm39) V669M possibly damaging Het
Fktn C T 4: 53,747,003 (GRCm39) probably benign Het
Foxred1 G A 9: 35,122,130 (GRCm39) R20C probably benign Het
Gbp9 A G 5: 105,242,319 (GRCm39) L140P probably damaging Het
Gga1 T C 15: 78,773,230 (GRCm39) L286P probably damaging Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gsap A T 5: 21,486,035 (GRCm39) K628N probably damaging Het
Gtf3c4 G A 2: 28,720,648 (GRCm39) probably benign Het
H2-M10.6 A C 17: 37,124,043 (GRCm39) Y169S probably benign Het
Hal G A 10: 93,330,490 (GRCm39) V245I probably benign Het
Hebp2 T C 10: 18,420,849 (GRCm39) Y72C probably damaging Het
Helz2 T C 2: 180,878,056 (GRCm39) E914G probably damaging Het
Herc3 T C 6: 58,893,455 (GRCm39) Y906H probably damaging Het
Hfm1 A T 5: 107,028,226 (GRCm39) probably null Het
Hgs C T 11: 120,370,889 (GRCm39) P582S probably damaging Het
Hoxa10 G A 6: 52,211,469 (GRCm39) P149L probably damaging Het
Inpp5j T A 11: 3,454,738 (GRCm39) Q4L possibly damaging Het
Ints8 A C 4: 11,254,109 (GRCm39) M1R probably null Het
Isg15 T C 4: 156,284,447 (GRCm39) E27G possibly damaging Het
Klf13 A T 7: 63,541,513 (GRCm39) C205S probably damaging Het
Lama1 A T 17: 68,070,831 (GRCm39) Y830F probably benign Het
Lama1 G A 17: 68,004,378 (GRCm39) V17M unknown Het
Lama3 A G 18: 12,598,556 (GRCm39) N988D probably benign Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lct G T 1: 128,228,994 (GRCm39) P833H probably damaging Het
Lmf1 A T 17: 25,874,184 (GRCm39) R403W probably damaging Het
Me3 T G 7: 89,282,230 (GRCm39) S38A probably benign Het
Myg1 A T 15: 102,240,264 (GRCm39) D30V probably benign Het
Nbea A G 3: 55,537,610 (GRCm39) I2841T possibly damaging Het
Nek1 T A 8: 61,542,847 (GRCm39) probably null Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or4p23 G T 2: 88,576,361 (GRCm39) D290E probably benign Het
Or5b119 A C 19: 13,456,971 (GRCm39) V197G possibly damaging Het
Or6n2 A T 1: 173,897,224 (GRCm39) Y120F probably damaging Het
Or9m2 T G 2: 87,820,926 (GRCm39) I157R probably damaging Het
Osbpl9 A G 4: 108,921,780 (GRCm39) Y613H probably damaging Het
Per3 C T 4: 151,127,249 (GRCm39) probably null Het
Pex6 G T 17: 47,034,424 (GRCm39) V758L probably damaging Het
Pikfyve A G 1: 65,291,707 (GRCm39) I1309V probably damaging Het
Pimreg A G 11: 71,933,985 (GRCm39) E37G possibly damaging Het
Pjvk G A 2: 76,486,232 (GRCm39) V211I probably benign Het
Plekhg4 T A 8: 106,108,293 (GRCm39) V1112E probably damaging Het
Ptprz1 T A 6: 23,044,319 (GRCm39) M2106K probably damaging Het
Rdh16f2 G T 10: 127,712,765 (GRCm39) L254F probably benign Het
Rictor G A 15: 6,803,343 (GRCm39) R485Q possibly damaging Het
Rnf146 G A 10: 29,223,475 (GRCm39) T137M probably damaging Het
Rrp9 T A 9: 106,360,203 (GRCm39) C204S probably damaging Het
Rxylt1 T C 10: 121,924,920 (GRCm39) T261A probably benign Het
Serpinb9h T C 13: 33,583,336 (GRCm39) S150P probably benign Het
Shkbp1 T C 7: 27,041,776 (GRCm39) T693A probably benign Het
Skint9 A G 4: 112,271,159 (GRCm39) Y84H probably benign Het
Slc22a12 A T 19: 6,586,761 (GRCm39) probably null Het
Slfn4 T C 11: 83,076,211 (GRCm39) C26R possibly damaging Het
Snrnp200 T C 2: 127,074,363 (GRCm39) L1401P probably damaging Het
Specc1 T A 11: 62,010,110 (GRCm39) probably null Het
Spef2 A T 15: 9,717,568 (GRCm39) M316K probably damaging Het
Tbc1d22b A G 17: 29,790,647 (GRCm39) R204G probably damaging Het
Tektl1 T C 10: 78,583,058 (GRCm39) N442S probably benign Het
Tgfbr3l C A 8: 4,299,548 (GRCm39) D110E probably benign Het
Ticrr T G 7: 79,325,071 (GRCm39) S532R probably damaging Het
Ticrr C A 7: 79,328,794 (GRCm39) Y644* probably null Het
Traf3ip1 A T 1: 91,450,579 (GRCm39) T509S probably damaging Het
Trmt10b T C 4: 45,307,946 (GRCm39) Y209H probably damaging Het
Trmt6 T C 2: 132,652,157 (GRCm39) M172V probably damaging Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Tshz2 C A 2: 169,725,843 (GRCm39) F146L probably benign Het
Tspyl4 G T 10: 34,173,576 (GRCm39) E23* probably null Het
Ulk2 A T 11: 61,732,165 (GRCm39) probably benign Het
Umodl1 A T 17: 31,227,674 (GRCm39) I1336F probably damaging Het
Vezt T C 10: 93,806,425 (GRCm39) D662G probably benign Het
Vnn1 G T 10: 23,776,727 (GRCm39) Q359H probably benign Het
Vnn1 A T 10: 23,776,726 (GRCm39) Q359L possibly damaging Het
Zdhhc16 A G 19: 41,930,394 (GRCm39) N14S probably damaging Het
Zfp455 T C 13: 67,355,601 (GRCm39) S225P probably damaging Het
Zfp74 T A 7: 29,634,486 (GRCm39) E407D probably benign Het
Zic2 T A 14: 122,716,031 (GRCm39) H384Q possibly damaging Het
Other mutations in Abhd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Abhd6 APN 14 8,039,849 (GRCm38) missense probably damaging 0.96
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
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'- GAAATGTAAGTAGCCCCGCTCCAC -3'
(R):5'- TCACTGTTCTCAGCTCAGAGAGCC -3'

Sequencing Primer
(F):5'- GGCTGCCTCGTAATCTGTAAAC -3'
(R):5'- GCTGGCACCCAACATAAGAA -3'
Posted On 2014-05-23