Incidental Mutation 'R8727:Abhd18'
ID 662478
Institutional Source Beutler Lab
Gene Symbol Abhd18
Ensembl Gene ENSMUSG00000037818
Gene Name abhydrolase domain containing 18
Synonyms 3110057O12Rik
MMRRC Submission 068575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R8727 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 40825532-40892573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40884627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 222 (L222Q)
Ref Sequence ENSEMBL: ENSMUSP00000103712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108077] [ENSMUST00000108078] [ENSMUST00000159774] [ENSMUST00000204496] [ENSMUST00000205065]
AlphaFold Q8C1A9
Predicted Effect probably damaging
Transcript: ENSMUST00000108077
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: L222Q

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 7.7e-168 PFAM
Pfam:Abhydrolase_6 91 445 1.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108078
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: L222Q

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 7.7e-168 PFAM
Pfam:Abhydrolase_6 91 445 1.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159774
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: L222Q

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 1.3e-171 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204496
SMART Domains Protein: ENSMUSP00000145007
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 16 67 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205065
SMART Domains Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 16 151 7.8e-65 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.2%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik C T 16: 97,867,651 (GRCm39) A104T probably damaging Het
Adam30 C T 3: 98,070,348 (GRCm39) T727M possibly damaging Het
Adh6b A T 3: 138,058,729 (GRCm39) Q137L probably damaging Het
Alpl C T 4: 137,475,127 (GRCm39) V269I probably benign Het
Ang2 C T 14: 51,432,996 (GRCm39) G129S probably benign Het
Atp6v0a1 A T 11: 100,920,015 (GRCm39) H216L possibly damaging Het
BC030500 C T 8: 59,366,049 (GRCm39) T61I unknown Het
Brpf1 T G 6: 113,293,491 (GRCm39) L520R probably damaging Het
Btbd10 A G 7: 112,927,626 (GRCm39) I243T possibly damaging Het
Bub1 C A 2: 127,646,139 (GRCm39) C947F probably damaging Het
C4b T C 17: 34,953,459 (GRCm39) E1008G probably damaging Het
Ccdc40 A G 11: 119,155,323 (GRCm39) T1188A probably benign Het
Cdcp3 A G 7: 130,875,485 (GRCm39) T1770A unknown Het
Cnn1 G T 9: 22,010,557 (GRCm39) probably benign Het
Colgalt2 T C 1: 152,360,662 (GRCm39) M233T probably damaging Het
Cox15 A T 19: 43,735,181 (GRCm39) C195* probably null Het
Cped1 A T 6: 22,059,941 (GRCm39) R202S possibly damaging Het
Dact2 A T 17: 14,417,146 (GRCm39) C351* probably null Het
Dbnl A G 11: 5,738,582 (GRCm39) N8S probably benign Het
Depdc1a T A 3: 159,228,356 (GRCm39) N369K probably benign Het
Dnah2 A T 11: 69,415,005 (GRCm39) L243Q probably damaging Het
Dscaml1 T A 9: 45,341,759 (GRCm39) Y57N probably benign Het
Eif2b3 A G 4: 116,927,944 (GRCm39) T388A probably benign Het
Eif4h A C 5: 134,654,393 (GRCm39) probably null Het
Elf1 C T 14: 79,810,667 (GRCm39) Q288* probably null Het
Fbxl5 A T 5: 43,908,362 (GRCm39) probably benign Het
Fgl2 C T 5: 21,580,677 (GRCm39) R340* probably null Het
Fut4 T C 9: 14,662,082 (GRCm39) D404G probably damaging Het
Glmn G A 5: 107,718,152 (GRCm39) P255L probably benign Het
Gm14322 C T 2: 177,411,481 (GRCm39) T97I probably benign Het
Gm44511 C A 6: 128,797,997 (GRCm39) C32F probably damaging Het
Gm5478 A G 15: 101,553,871 (GRCm39) F247S probably damaging Het
Golgb1 T A 16: 36,739,563 (GRCm39) M2675K probably damaging Het
Hectd1 T C 12: 51,849,000 (GRCm39) D368G possibly damaging Het
Hnrnpul2 A G 19: 8,798,064 (GRCm39) N140S probably benign Het
Htr4 A T 18: 62,561,209 (GRCm39) I157L probably damaging Het
Igf2bp3 G T 6: 49,086,009 (GRCm39) probably benign Het
Kcnma1 T G 14: 23,436,332 (GRCm39) M790L probably benign Het
Kcnv1 G A 15: 44,977,999 (GRCm39) S13L unknown Het
Kctd20 C T 17: 29,184,025 (GRCm39) R312* probably null Het
Kdm3b T A 18: 34,960,435 (GRCm39) I1340N probably damaging Het
Kdm6b A G 11: 69,292,919 (GRCm39) F1286L unknown Het
Knl1 T A 2: 118,899,524 (GRCm39) F408L probably benign Het
Lypd5 G T 7: 24,053,101 (GRCm39) G253W probably damaging Het
Mea1 A G 17: 46,992,614 (GRCm39) T21A probably benign Het
Metrnl A G 11: 121,606,842 (GRCm39) E299G possibly damaging Het
Mindy4 T A 6: 55,256,055 (GRCm39) probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nbn G A 4: 15,963,911 (GRCm39) S104N probably damaging Het
Nxpe2 A T 9: 48,238,073 (GRCm39) F61I probably benign Het
Or6c1b T C 10: 129,273,334 (GRCm39) Y218H probably benign Het
Or6c70 T A 10: 129,710,092 (GRCm39) D178V probably damaging Het
Pcdhb20 C T 18: 37,638,437 (GRCm39) A321V probably damaging Het
Pgr C A 9: 8,901,544 (GRCm39) P359Q probably damaging Het
Pi4k2b G A 5: 52,908,031 (GRCm39) V157I probably benign Het
Piezo2 C T 18: 63,242,956 (GRCm39) S621N probably benign Het
Plekhm1 A C 11: 103,258,444 (GRCm39) F1031L probably damaging Het
Pltp A G 2: 164,696,301 (GRCm39) S124P probably damaging Het
Polr3gl T A 3: 96,487,154 (GRCm39) E177V probably benign Het
Pstk G T 7: 130,973,024 (GRCm39) R41L possibly damaging Het
Ptprk C A 10: 28,442,541 (GRCm39) probably benign Het
Rasgrp1 T C 2: 117,119,158 (GRCm39) E493G probably benign Het
Rtn3 A G 19: 7,434,726 (GRCm39) L422P probably benign Het
Rusc2 C T 4: 43,401,351 (GRCm39) probably benign Het
Sbno2 A G 10: 79,911,090 (GRCm39) F6S probably benign Het
Sh2d4a A G 8: 68,798,695 (GRCm39) Y348C probably damaging Het
Sh3rf3 A G 10: 58,939,992 (GRCm39) probably null Het
Sipa1l2 T C 8: 126,177,125 (GRCm39) E1163G probably benign Het
Strip1 G C 3: 107,521,964 (GRCm39) A738G probably damaging Het
Tdrkh C T 3: 94,333,299 (GRCm39) R255C probably benign Het
Tex11 C T X: 100,059,191 (GRCm39) V190I possibly damaging Het
Tln1 A T 4: 43,555,911 (GRCm39) M101K possibly damaging Het
Trav6-2 A C 14: 52,905,028 (GRCm39) probably benign Het
Tspan11 A T 6: 127,900,674 (GRCm39) I82F possibly damaging Het
Ttn T C 2: 76,779,320 (GRCm39) K1233E unknown Het
U2af2 T A 7: 5,070,432 (GRCm39) probably benign Het
Usp29 A T 7: 6,965,917 (GRCm39) S587C probably damaging Het
Vmn1r235 A T 17: 21,482,056 (GRCm39) Q127L probably damaging Het
Vmn1r65 C A 7: 6,011,503 (GRCm39) A244S probably damaging Het
Vmn2r18 A G 5: 151,508,462 (GRCm39) S221P probably damaging Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zpld2 T C 4: 133,930,150 (GRCm39) K52E probably benign Het
Other mutations in Abhd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Abhd18 APN 3 40,888,077 (GRCm39) missense probably benign 0.00
IGL01785:Abhd18 APN 3 40,860,339 (GRCm39) missense probably damaging 1.00
IGL02318:Abhd18 APN 3 40,884,662 (GRCm39) critical splice donor site probably null
IGL02447:Abhd18 APN 3 40,888,208 (GRCm39) missense probably benign
IGL02823:Abhd18 APN 3 40,887,953 (GRCm39) splice site probably benign
IGL03023:Abhd18 APN 3 40,859,419 (GRCm39) missense probably damaging 0.98
F2404:Abhd18 UTSW 3 40,888,313 (GRCm39) missense probably damaging 0.99
R0064:Abhd18 UTSW 3 40,888,288 (GRCm39) missense probably benign 0.00
R0064:Abhd18 UTSW 3 40,888,288 (GRCm39) missense probably benign 0.00
R0494:Abhd18 UTSW 3 40,871,123 (GRCm39) missense probably damaging 1.00
R1994:Abhd18 UTSW 3 40,889,361 (GRCm39) nonsense probably null
R2206:Abhd18 UTSW 3 40,865,008 (GRCm39) missense probably benign 0.00
R2223:Abhd18 UTSW 3 40,889,296 (GRCm39) splice site probably benign
R2698:Abhd18 UTSW 3 40,885,401 (GRCm39) missense probably benign 0.03
R3406:Abhd18 UTSW 3 40,859,338 (GRCm39) start codon destroyed probably null 1.00
R3747:Abhd18 UTSW 3 40,888,008 (GRCm39) missense probably benign
R4899:Abhd18 UTSW 3 40,860,304 (GRCm39) splice site probably null
R5259:Abhd18 UTSW 3 40,871,325 (GRCm39) missense probably damaging 1.00
R5673:Abhd18 UTSW 3 40,877,886 (GRCm39) missense probably damaging 1.00
R5713:Abhd18 UTSW 3 40,889,414 (GRCm39) nonsense probably null
R5797:Abhd18 UTSW 3 40,887,986 (GRCm39) missense probably benign 0.08
R5983:Abhd18 UTSW 3 40,864,979 (GRCm39) missense probably damaging 1.00
R6333:Abhd18 UTSW 3 40,888,218 (GRCm39) missense probably benign
R6980:Abhd18 UTSW 3 40,888,215 (GRCm39) missense probably benign
R7085:Abhd18 UTSW 3 40,871,344 (GRCm39) missense possibly damaging 0.90
R7091:Abhd18 UTSW 3 40,871,173 (GRCm39) missense probably damaging 0.99
R7096:Abhd18 UTSW 3 40,888,305 (GRCm39) missense probably damaging 1.00
R7168:Abhd18 UTSW 3 40,889,371 (GRCm39) missense probably damaging 1.00
R8027:Abhd18 UTSW 3 40,888,158 (GRCm39) missense probably benign 0.03
R8193:Abhd18 UTSW 3 40,884,660 (GRCm39) missense probably benign 0.34
R8414:Abhd18 UTSW 3 40,888,061 (GRCm39) missense probably benign
R8434:Abhd18 UTSW 3 40,885,331 (GRCm39) missense possibly damaging 0.65
R8725:Abhd18 UTSW 3 40,884,627 (GRCm39) missense probably damaging 1.00
R9218:Abhd18 UTSW 3 40,871,201 (GRCm39) critical splice donor site probably null
R9461:Abhd18 UTSW 3 40,859,319 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TTACAGCCCTAGTGTTCATGTC -3'
(R):5'- GCTCAGTGAAGAACAGCATTTCC -3'

Sequencing Primer
(F):5'- ACAGCCCTAGTGTTCATGTCTTACC -3'
(R):5'- CTGTTACAACTGACTGCATGG -3'
Posted On 2021-03-08