Incidental Mutation 'IGL01306:Abhd12b'
ID73438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd12b
Ensembl Gene ENSMUSG00000090121
Gene Nameabhydrolase domain containing 12B
SynonymsLOC328121
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL01306
Quality Score
Status
Chromosome12
Chromosomal Location70154142-70183887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 70169048 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 88 (G88S)
Ref Sequence ENSEMBL: ENSMUSP00000138681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169156] [ENSMUST00000182512] [ENSMUST00000182782] [ENSMUST00000182927]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162570
Predicted Effect probably damaging
Transcript: ENSMUST00000169156
AA Change: G165S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: G165S

DomainStartEndE-ValueType
Pfam:Hydrolase_4 136 289 1e-16 PFAM
Pfam:Abhydrolase_1 137 278 2.6e-10 PFAM
Pfam:Abhydrolase_5 138 337 3.5e-22 PFAM
Pfam:Abhydrolase_6 139 347 2.1e-12 PFAM
Pfam:Peptidase_S9 154 357 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182512
Predicted Effect probably benign
Transcript: ENSMUST00000182782
Predicted Effect probably damaging
Transcript: ENSMUST00000182927
AA Change: G88S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: G88S

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 61 260 1.5e-22 PFAM
Pfam:Abhydrolase_6 62 266 1.8e-19 PFAM
Pfam:Peptidase_S9 77 280 5.1e-8 PFAM
Pfam:Abhydrolase_1 89 279 1.8e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,005,013 probably benign Het
Acot10 A G 15: 20,665,965 F230S probably benign Het
Ago4 T C 4: 126,515,884 probably null Het
Akap12 G T 10: 4,353,273 A28S probably benign Het
Anks1 C A 17: 27,986,253 T262K probably damaging Het
Arfgap3 A G 15: 83,313,509 Y349H possibly damaging Het
Camsap2 T A 1: 136,297,790 E199D probably benign Het
Ccdc13 A T 9: 121,827,363 M128K probably benign Het
Ccdc38 T C 10: 93,569,935 probably null Het
Cep95 G A 11: 106,813,815 V499I probably benign Het
Cpne6 A T 14: 55,515,249 I299F probably damaging Het
Cse1l T A 2: 166,927,508 Y278* probably null Het
Dip2c A G 13: 9,575,143 N558D possibly damaging Het
Edar A T 10: 58,628,638 C60S probably damaging Het
Fat2 T C 11: 55,310,872 N459D probably benign Het
Fbxw8 C T 5: 118,113,720 V243M possibly damaging Het
Fem1b G A 9: 62,797,528 A150V possibly damaging Het
Gal3st1 A G 11: 3,998,405 Y204C probably damaging Het
Gm5422 A T 10: 31,249,436 noncoding transcript Het
Grin2c T C 11: 115,256,194 T392A probably benign Het
Itpk1 T C 12: 102,606,103 E117G probably damaging Het
Kif12 G T 4: 63,165,884 P627Q probably damaging Het
Krtap15 T A 16: 88,829,367 F88L probably benign Het
Mlh1 T C 9: 111,252,912 N248D possibly damaging Het
Olfr617 T C 7: 103,584,693 Y224H probably damaging Het
Olfr727 A G 14: 50,126,582 N2D probably benign Het
Olfr94 T C 17: 37,196,942 N342S probably benign Het
Per2 T C 1: 91,448,833 H106R probably damaging Het
Pfkl T A 10: 77,991,395 T486S probably benign Het
Prkdc T C 16: 15,667,731 V474A possibly damaging Het
Scamp4 C A 10: 80,609,422 Q34K probably damaging Het
Serpinb3b A G 1: 107,154,665 Y290H probably damaging Het
Sft2d2 G T 1: 165,183,995 A110E probably benign Het
Siglecf T A 7: 43,351,953 L115* probably null Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Slco1a1 T A 6: 141,946,587 K18* probably null Het
Spata1 A T 3: 146,487,399 Y112* probably null Het
Tbc1d32 G A 10: 56,180,524 T440I probably benign Het
Vmn2r111 T A 17: 22,568,984 E462V probably damaging Het
Wnt16 C T 6: 22,297,935 R267C probably damaging Het
Xylt1 A C 7: 117,548,890 S230R probably benign Het
Other mutations in Abhd12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02886:Abhd12b APN 12 70182966 missense possibly damaging 0.70
ANU23:Abhd12b UTSW 12 70169048 missense probably damaging 0.99
R0112:Abhd12b UTSW 12 70181017 missense probably benign 0.16
R0542:Abhd12b UTSW 12 70163495 missense possibly damaging 0.82
R1427:Abhd12b UTSW 12 70182419 missense probably damaging 1.00
R4782:Abhd12b UTSW 12 70169064 missense probably damaging 1.00
R4799:Abhd12b UTSW 12 70169064 missense probably damaging 1.00
R5238:Abhd12b UTSW 12 70163368 splice site probably null
R5372:Abhd12b UTSW 12 70181026 missense probably damaging 0.98
R6974:Abhd12b UTSW 12 70159447 missense probably benign 0.03
Posted On2013-10-07