Incidental Mutation 'IGL03023:Abhd18'
ID408051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd18
Ensembl Gene ENSMUSG00000037818
Gene Nameabhydrolase domain containing 18
Synonyms3110057O12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL03023
Quality Score
Status
Chromosome3
Chromosomal Location40846970-40938138 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40904984 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
Ref Sequence ENSEMBL: ENSMUSP00000124430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099123] [ENSMUST00000108077] [ENSMUST00000108078] [ENSMUST00000159774] [ENSMUST00000203214] [ENSMUST00000203472] [ENSMUST00000203650] [ENSMUST00000203892] [ENSMUST00000204496] [ENSMUST00000205065]
Predicted Effect probably benign
Transcript: ENSMUST00000099123
SMART Domains Protein: ENSMUSP00000141045
Gene: ENSMUSG00000074619

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:FUN14 81 183 2.9e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108077
AA Change: D28G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: D28G

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: D28G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: D28G

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: D28G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: D28G

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 1.3e-171 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203214
AA Change: D28G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144946
Gene: ENSMUSG00000037818
AA Change: D28G

DomainStartEndE-ValueType
Pfam:DUF2048 16 62 1.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203472
SMART Domains Protein: ENSMUSP00000145313
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 1 75 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203650
SMART Domains Protein: ENSMUSP00000145006
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 1 130 8.8e-71 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203892
AA Change: D28G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: D28G

DomainStartEndE-ValueType
Pfam:DUF2048 16 151 7.8e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204496
AA Change: D28G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145007
Gene: ENSMUSG00000037818
AA Change: D28G

DomainStartEndE-ValueType
Pfam:DUF2048 16 67 2.2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205065
AA Change: D28G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: D28G

DomainStartEndE-ValueType
Pfam:DUF2048 16 151 7.8e-65 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Abhd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Abhd18 APN 3 40933642 missense probably benign 0.00
IGL01785:Abhd18 APN 3 40905904 missense probably damaging 1.00
IGL02318:Abhd18 APN 3 40930227 critical splice donor site probably null
IGL02447:Abhd18 APN 3 40933773 missense probably benign
IGL02823:Abhd18 APN 3 40933518 splice site probably benign
F2404:Abhd18 UTSW 3 40933878 missense probably damaging 0.99
R0064:Abhd18 UTSW 3 40933853 missense probably benign 0.00
R0064:Abhd18 UTSW 3 40933853 missense probably benign 0.00
R0494:Abhd18 UTSW 3 40916688 missense probably damaging 1.00
R1994:Abhd18 UTSW 3 40934926 nonsense probably null
R2206:Abhd18 UTSW 3 40910573 missense probably benign 0.00
R2223:Abhd18 UTSW 3 40934861 splice site probably benign
R2698:Abhd18 UTSW 3 40930966 missense probably benign 0.03
R3406:Abhd18 UTSW 3 40904903 start codon destroyed probably null 1.00
R3747:Abhd18 UTSW 3 40933573 missense probably benign
R4899:Abhd18 UTSW 3 40905869 splice site probably null
R5259:Abhd18 UTSW 3 40916890 missense probably damaging 1.00
R5673:Abhd18 UTSW 3 40923451 missense probably damaging 1.00
R5713:Abhd18 UTSW 3 40934979 nonsense probably null
R5797:Abhd18 UTSW 3 40933551 missense probably benign 0.08
R5983:Abhd18 UTSW 3 40910544 missense probably damaging 1.00
R6333:Abhd18 UTSW 3 40933783 missense probably benign
R6980:Abhd18 UTSW 3 40933780 missense probably benign
R7085:Abhd18 UTSW 3 40916909 missense possibly damaging 0.90
R7091:Abhd18 UTSW 3 40916738 missense probably damaging 0.99
R7096:Abhd18 UTSW 3 40933870 missense probably damaging 1.00
R7168:Abhd18 UTSW 3 40934936 missense probably damaging 1.00
Posted On2016-08-02