Incidental Mutation 'IGL02318:Abhd18'
ID288147
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: 0.103) question?
Stock #IGL02318
Quality Score
Status
Chromosome3
Chromosomal Location40846970-40938138 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 40930227 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108077] [ENSMUST00000108078] [ENSMUST00000159774] [ENSMUST00000204496] [ENSMUST00000205065]
Predicted Effect probably null
Transcript: ENSMUST00000108077
SMART Domains Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 7.7e-168 PFAM
Pfam:Abhydrolase_6 91 445 1.4e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108078
SMART Domains Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 7.7e-168 PFAM
Pfam:Abhydrolase_6 91 445 1.4e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159774
SMART Domains Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818

DomainStartEndE-ValueType
Pfam:DUF2048 16 457 1.3e-171 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204464
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign 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
IGL02447:Abhd18 APN 3 40933773 missense probably benign
IGL02823:Abhd18 APN 3 40933518 splice site probably benign
IGL03023:Abhd18 APN 3 40904984 missense probably damaging 0.98
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
Posted On2015-04-16