Incidental Mutation 'R6501:Abhd8'
ID 519730
Institutional Source Beutler Lab
Gene Symbol Abhd8
Ensembl Gene ENSMUSG00000007950
Gene Name abhydrolase domain containing 8
Synonyms 0910001L24Rik
MMRRC Submission 044633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6501 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71909349-71916299 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 71914165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 154 (C154*)
Ref Sequence ENSEMBL: ENSMUSP00000008094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008094] [ENSMUST00000048914]
AlphaFold Q8R0P8
Predicted Effect probably null
Transcript: ENSMUST00000008094
AA Change: C154*
SMART Domains Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: C154*

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 0.9712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Htr2b T G 1: 86,038,363 (GRCm39) E11A probably damaging Het
Krtap4-9 T A 11: 99,676,255 (GRCm39) probably benign Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nfxl1 A T 5: 72,685,852 (GRCm39) probably null Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc2a6 A T 2: 26,913,143 (GRCm39) Y383* probably null Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Spint2 A G 7: 28,963,131 (GRCm39) Y56H probably damaging Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) probably benign 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
R1985:Abhd8 UTSW 8 71,916,157 (GRCm39) unclassified probably benign
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
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'- TGCCAATGCGTAAAAGGTGTAG -3'
(R):5'- ATCACAGTGTACCGCAACG -3'

Sequencing Primer
(F):5'- TGCGTAAAAGGTGTAGGCAGC -3'
(R):5'- CAACGGGAGGCTGGTGG -3'
Posted On 2018-06-06