Incidental Mutation 'R8268:Abhd8'
ID 639541
Institutional Source Beutler Lab
Gene Symbol Abhd8
Ensembl Gene ENSMUSG00000007950
Gene Name abhydrolase domain containing 8
Synonyms 0910001L24Rik
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8268 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71909349-71916299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71909961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 396 (C396S)
Ref Sequence ENSEMBL: ENSMUSP00000008094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008094]
AlphaFold Q8R0P8
Predicted Effect probably benign
Transcript: ENSMUST00000008094
AA Change: C396S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: C396S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Sh3pxd2a C T 19: 47,256,033 (GRCm39) R923H probably benign Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stard3nl A G 13: 19,560,629 (GRCm39) S49P probably damaging Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Tmem167 T C 13: 90,252,554 (GRCm39) F70S probably damaging Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G 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
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
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'- GCCTCTACTACTCAAGATCCAG -3'
(R):5'- GAGGTTGAGAAGTCCAACCC -3'

Sequencing Primer
(F):5'- TCTACTACTCAAGATCCAGGAGTC -3'
(R):5'- CCGGGCATATTATAAGGCGCTTAATG -3'
Posted On 2020-07-28