Incidental Mutation 'R6771:Abhd8'
ID 532172
Institutional Source Beutler Lab
Gene Symbol Abhd8
Ensembl Gene ENSMUSG00000007950
Gene Name abhydrolase domain containing 8
Synonyms 0910001L24Rik
MMRRC Submission 044887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6771 (G1)
Quality Score 189.009
Status Validated
Chromosome 8
Chromosomal Location 71909349-71916299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71914105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 174 (H174Q)
Ref Sequence ENSEMBL: ENSMUSP00000008094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008094] [ENSMUST00000048914]
AlphaFold Q8R0P8
Predicted Effect probably damaging
Transcript: ENSMUST00000008094
AA Change: H174Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: H174Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency 95% (37/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Apol8 A T 15: 77,637,258 (GRCm39) probably null Het
Arvcf A G 16: 18,222,614 (GRCm39) T792A probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Clmn A G 12: 104,740,041 (GRCm39) V962A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Cyb5a T A 18: 84,889,755 (GRCm39) H61Q probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Ftsj3 T C 11: 106,140,366 (GRCm39) K801E probably damaging Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 T G 12: 113,842,807 (GRCm39) S87R probably damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Marchf8 T C 6: 116,379,004 (GRCm39) S313P probably benign Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Or7g35 C T 9: 19,496,675 (GRCm39) L281F probably benign Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Pwp2 G A 10: 78,018,222 (GRCm39) probably null Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Sp110 C T 1: 85,520,000 (GRCm39) probably null Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly 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
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
R6501:Abhd8 UTSW 8 71,914,165 (GRCm39) nonsense probably null
R6769: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'- GTGAAGATGGCCCTCATATCCTC -3'
(R):5'- ATCACAGTGTACCGCAACG -3'

Sequencing Primer
(F):5'- CCTCTGCCAATGCGTAAAAGGTG -3'
(R):5'- TCGTGCCGACCTGCAAG -3'
Posted On 2018-08-29