Incidental Mutation 'IGL00338:Abhd11'
ID5527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd11
Ensembl Gene ENSMUSG00000040532
Gene Nameabhydrolase domain containing 11
Synonyms1110054D16Rik, A630008N09Rik, Wbscr21
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00338
Quality Score
Status
Chromosome5
Chromosomal Location135009152-135012175 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135011985 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 217 (D217G)
Ref Sequence ENSEMBL: ENSMUSP00000144449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046999] [ENSMUST00000111216] [ENSMUST00000123227] [ENSMUST00000148831] [ENSMUST00000149778] [ENSMUST00000154469] [ENSMUST00000201890]
Predicted Effect probably benign
Transcript: ENSMUST00000046999
AA Change: D297G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043041
Gene: ENSMUSG00000040532
AA Change: D297G

DomainStartEndE-ValueType
Pfam:Esterase 43 206 1.8e-7 PFAM
Pfam:Hydrolase_4 56 295 1.4e-17 PFAM
Pfam:Thioesterase 59 166 1.2e-8 PFAM
Pfam:Abhydrolase_1 59 187 3.8e-18 PFAM
Pfam:Abhydrolase_5 60 289 2.4e-23 PFAM
Pfam:Abhydrolase_6 61 301 1.2e-24 PFAM
Pfam:PGAP1 125 223 2.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111216
AA Change: D217G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106847
Gene: ENSMUSG00000040532
AA Change: D217G

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 1 209 3.5e-17 PFAM
Pfam:Abhydrolase_6 2 221 4.1e-33 PFAM
Pfam:Abhydrolase_1 7 154 1.1e-11 PFAM
Pfam:PGAP1 22 139 3.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123227
SMART Domains Protein: ENSMUSP00000143994
Gene: ENSMUSG00000040532

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipase_3 51 150 1.6e-4 PFAM
Pfam:Hydrolase_4 55 152 3.3e-10 PFAM
Pfam:Abhydrolase_1 59 149 7.5e-14 PFAM
Pfam:Thioesterase 59 150 1.6e-6 PFAM
Pfam:Abhydrolase_5 60 153 4.8e-15 PFAM
Pfam:Abhydrolase_6 61 158 6.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136022
Predicted Effect probably benign
Transcript: ENSMUST00000148831
SMART Domains Protein: ENSMUSP00000144595
Gene: ENSMUSG00000040532

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 1 67 5.2e-9 PFAM
Pfam:Abhydrolase_6 1 67 2.7e-10 PFAM
Pfam:Abhydrolase_1 2 67 1.5e-9 PFAM
Pfam:Hydrolase_4 2 67 6.9e-7 PFAM
Pfam:Lipase_3 7 66 6.5e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149778
SMART Domains Protein: ENSMUSP00000144553
Gene: ENSMUSG00000040532

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 1 74 5.1e-9 PFAM
Pfam:Abhydrolase_6 1 78 3.5e-11 PFAM
Pfam:Abhydrolase_1 2 69 1.7e-9 PFAM
Pfam:Hydrolase_4 2 72 8.3e-7 PFAM
Pfam:Lipase_3 8 71 5.8e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154060
Predicted Effect probably benign
Transcript: ENSMUST00000154469
AA Change: D217G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144449
Gene: ENSMUSG00000040532
AA Change: D217G

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 1 209 4.1e-17 PFAM
Pfam:Abhydrolase_6 1 221 1.1e-21 PFAM
Pfam:Abhydrolase_1 2 99 2.7e-13 PFAM
Pfam:Hydrolase_4 2 215 4.2e-14 PFAM
Pfam:PGAP1 45 158 6.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201890
SMART Domains Protein: ENSMUSP00000144329
Gene: ENSMUSG00000040532

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222613
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T A 1: 72,690,131 Y285F probably damaging Het
Ano8 C A 8: 71,484,258 probably benign Het
Bche A G 3: 73,701,307 V262A probably benign Het
Car13 T C 3: 14,656,904 probably benign Het
Cd244 T A 1: 171,574,370 probably null Het
Cfap157 T C 2: 32,781,383 D137G probably damaging Het
Cobl T C 11: 12,375,813 R119G possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gp2 A G 7: 119,454,390 M116T probably damaging Het
Gp5 C A 16: 30,308,822 A345S probably benign Het
Gphn A T 12: 78,504,632 I285F probably damaging Het
Heatr5b A G 17: 78,803,434 V995A probably damaging Het
Hecw2 T C 1: 53,827,881 probably benign Het
Hydin C A 8: 110,569,802 N3654K possibly damaging Het
Inpp5b A G 4: 124,784,375 Y440C possibly damaging Het
Olfr1256 A T 2: 89,835,458 Y162* probably null Het
Pphln1 A G 15: 93,465,210 K306E probably damaging Het
Rnf26 A C 9: 44,112,859 S31A probably benign Het
Ros1 A T 10: 52,125,811 S1072T probably benign Het
Skiv2l A G 17: 34,846,667 W304R probably damaging Het
Slc22a14 A G 9: 119,178,513 F277L possibly damaging Het
Slc22a26 A T 19: 7,782,975 L468I probably benign Het
Tchh C T 3: 93,447,644 L1464F unknown Het
Tmem260 C T 14: 48,477,636 T249M probably damaging Het
Ttn A G 2: 76,974,065 S288P probably damaging Het
Usp17lc A G 7: 103,418,941 H481R possibly damaging Het
Vps50 C T 6: 3,602,670 T929M probably benign Het
Zdhhc8 A G 16: 18,225,196 L380P possibly damaging Het
Other mutations in Abhd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Abhd11 APN 5 135011475 splice site probably null
IGL01944:Abhd11 APN 5 135011376 missense probably damaging 0.99
R1869:Abhd11 UTSW 5 135011617 missense probably damaging 1.00
R5217:Abhd11 UTSW 5 135011544 missense probably damaging 1.00
R7832:Abhd11 UTSW 5 135009800 missense probably benign 0.03
Posted On2012-04-20