Incidental Mutation 'R1985:Abhd8'
ID 273622
Institutional Source Beutler Lab
Gene Symbol Abhd8
Ensembl Gene ENSMUSG00000007950
Gene Name abhydrolase domain containing 8
Synonyms 0910001L24Rik
MMRRC Submission 039997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1985 (G1)
Quality Score 31
Status Validated
Chromosome 8
Chromosomal Location 71909349-71916299 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 71916157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008094] [ENSMUST00000048914]
AlphaFold Q8R0P8
Predicted Effect probably benign
Transcript: ENSMUST00000008094
SMART Domains Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
low complexity region 115 127 N/A INTRINSIC
low complexity region 139 148 N/A INTRINSIC
Pfam:Hydrolase_4 164 397 2e-17 PFAM
Pfam:Abhydrolase_1 168 289 1.2e-19 PFAM
Pfam:Abhydrolase_5 168 391 2.4e-20 PFAM
Pfam:Abhydrolase_6 170 403 1.4e-17 PFAM
low complexity region 411 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048914
SMART Domains Protein: ENSMUSP00000044497
Gene: ENSMUSG00000034880

DomainStartEndE-ValueType
Pfam:Ribosomal_L34 49 92 1.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212503
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (76/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,236,755 (GRCm39) D648E probably benign Het
Akr1d1 A G 6: 37,535,336 (GRCm39) D240G probably damaging Het
Ankmy2 A G 12: 36,207,363 (GRCm39) H3R possibly damaging Het
Anpep A C 7: 79,490,605 (GRCm39) probably null Het
Apobr A G 7: 126,186,903 (GRCm39) T20A possibly damaging Het
Atp2a2 A T 5: 122,604,899 (GRCm39) Y427N probably benign Het
Camkk2 A C 5: 122,902,190 (GRCm39) S40A possibly damaging Het
Camp T C 9: 109,677,497 (GRCm39) N112S probably benign Het
Cbx7 A G 15: 79,802,591 (GRCm39) S229P probably damaging Het
Cnot2 T C 10: 116,363,781 (GRCm39) N41S probably damaging Het
Dchs1 A G 7: 105,421,605 (GRCm39) F272L possibly damaging Het
Dct T C 14: 118,273,954 (GRCm39) K318E probably benign Het
Dhrs11 A C 11: 84,719,633 (GRCm39) L31V probably damaging Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dnajc7 A G 11: 100,481,718 (GRCm39) S305P probably benign Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Flnc A G 6: 29,444,415 (GRCm39) probably benign Het
Garin3 T C 11: 46,298,693 (GRCm39) *666Q probably null Het
Gm7535 A G 17: 18,131,800 (GRCm39) probably benign Het
Grtp1 A G 8: 13,229,376 (GRCm39) F313L probably damaging Het
Haus6 T C 4: 86,511,846 (GRCm39) Y425C possibly damaging Het
Hdac1 T A 4: 129,422,753 (GRCm39) N83Y possibly damaging Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hipk3 T C 2: 104,264,780 (GRCm39) I737V probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Ints3 C T 3: 90,307,610 (GRCm39) probably null Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kdm4b T A 17: 56,708,302 (GRCm39) V957E probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Klhl11 G T 11: 100,354,070 (GRCm39) Q584K probably benign Het
Krt9 A T 11: 100,080,817 (GRCm39) M345K probably benign Het
Lgr5 T C 10: 115,331,150 (GRCm39) probably benign Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Ly9 A G 1: 171,427,341 (GRCm39) S405P probably damaging Het
Myh2 A G 11: 67,071,740 (GRCm39) D519G possibly damaging Het
Nav3 G A 10: 109,606,045 (GRCm39) probably benign Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Ninj2 A T 6: 120,175,600 (GRCm39) probably benign Het
Obsl1 A G 1: 75,482,244 (GRCm39) C209R probably damaging Het
Or13a25 G A 7: 140,247,734 (GRCm39) C171Y probably damaging Het
Or2d4 A G 7: 106,544,133 (GRCm39) I25T probably benign Het
Or2j6 A T 7: 139,980,713 (GRCm39) M82K possibly damaging Het
Or2t44 A C 11: 58,677,210 (GRCm39) D50A probably damaging Het
Or2y1g T C 11: 49,171,110 (GRCm39) I45T probably damaging Het
Or52z14 A T 7: 103,252,879 (GRCm39) Y6F probably benign Het
Otud4 G C 8: 80,366,641 (GRCm39) R36P probably damaging Het
Pcnt C T 10: 76,216,171 (GRCm39) R2239H possibly damaging Het
Pgbd5 T A 8: 125,097,331 (GRCm39) M491L probably benign Het
Pitrm1 A T 13: 6,608,220 (GRCm39) D316V probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pramel52-ps A T 5: 94,531,931 (GRCm39) I272L probably benign Het
Prickle2 T C 6: 92,388,433 (GRCm39) D323G probably damaging Het
Psmd11 A T 11: 80,336,089 (GRCm39) I114F probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbp3 T G 14: 33,678,418 (GRCm39) S789A probably benign Het
Rfxap C A 3: 54,714,747 (GRCm39) R117L probably damaging Het
Rims2 T A 15: 39,208,710 (GRCm39) M171K probably damaging Het
Scin A G 12: 40,183,907 (GRCm39) probably null Het
Scn11a A G 9: 119,583,744 (GRCm39) S1624P probably benign Het
Slc41a3 G A 6: 90,619,210 (GRCm39) V330M probably damaging Het
Slc9c1 A G 16: 45,370,469 (GRCm39) I237V probably benign Het
Spag6 A G 2: 18,736,930 (GRCm39) I218V probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tbc1d24 G A 17: 24,426,938 (GRCm39) R318* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Trpm3 T A 19: 22,903,446 (GRCm39) Y1069N possibly damaging Het
Tuba8 A G 6: 121,197,479 (GRCm39) D47G probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Uqcc6 T A 10: 82,456,051 (GRCm39) T37S possibly damaging Het
Wdr7 GTT GT 18: 63,893,654 (GRCm39) probably null Het
Ybx2 A G 11: 69,827,294 (GRCm39) probably null Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp788 T A 7: 41,299,905 (GRCm39) I795N probably damaging Het
Other mutations in Abhd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Abhd8 APN 8 71,909,963 (GRCm39) missense probably damaging 1.00
IGL01780:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
IGL02350:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
IGL02357:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
PIT4142001:Abhd8 UTSW 8 71,914,499 (GRCm39) missense probably damaging 1.00
R0135:Abhd8 UTSW 8 71,910,718 (GRCm39) missense probably benign 0.20
R0142:Abhd8 UTSW 8 71,914,506 (GRCm39) missense probably damaging 0.96
R1006:Abhd8 UTSW 8 71,911,085 (GRCm39) missense probably benign 0.19
R1411:Abhd8 UTSW 8 71,914,374 (GRCm39) missense probably damaging 1.00
R1676:Abhd8 UTSW 8 71,914,517 (GRCm39) missense probably damaging 1.00
R1937:Abhd8 UTSW 8 71,914,506 (GRCm39) missense possibly damaging 0.93
R3724:Abhd8 UTSW 8 71,914,136 (GRCm39) missense probably benign 0.14
R5254:Abhd8 UTSW 8 71,911,042 (GRCm39) nonsense probably null
R5770:Abhd8 UTSW 8 71,909,972 (GRCm39) missense probably benign 0.07
R6030:Abhd8 UTSW 8 71,910,794 (GRCm39) missense possibly damaging 0.94
R6030:Abhd8 UTSW 8 71,910,794 (GRCm39) missense possibly damaging 0.94
R6474:Abhd8 UTSW 8 71,914,359 (GRCm39) missense probably damaging 1.00
R6501:Abhd8 UTSW 8 71,914,165 (GRCm39) nonsense probably null
R6769:Abhd8 UTSW 8 71,914,105 (GRCm39) missense probably damaging 1.00
R6771:Abhd8 UTSW 8 71,914,105 (GRCm39) missense probably damaging 1.00
R7406:Abhd8 UTSW 8 71,914,406 (GRCm39) missense probably benign
R7770:Abhd8 UTSW 8 71,910,894 (GRCm39) missense probably benign 0.09
R8268:Abhd8 UTSW 8 71,909,961 (GRCm39) missense probably benign 0.02
R9128:Abhd8 UTSW 8 71,914,389 (GRCm39) missense probably benign 0.00
R9305:Abhd8 UTSW 8 71,911,148 (GRCm39) missense possibly damaging 0.82
R9366:Abhd8 UTSW 8 71,914,328 (GRCm39) missense probably benign 0.18
Z1088:Abhd8 UTSW 8 71,914,445 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCATCCTAGCAGTACGAATG -3'
(R):5'- TTGGACGGTTATCTAGGCCAG -3'

Sequencing Primer
(F):5'- TCCTAGCAGTACGAATGCGGAG -3'
(R):5'- GATGCCTGCCCATCTGC -3'
Posted On 2015-03-30