Incidental Mutation 'IGL02457:Abhd16b'
ID 294431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd16b
Ensembl Gene ENSMUSG00000055882
Gene Name abhydrolase domain containing 16B
Synonyms BC050777
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02457
Quality Score
Status
Chromosome 2
Chromosomal Location 181134999-181136773 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181136127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 343 (D343G)
Ref Sequence ENSEMBL: ENSMUSP00000066520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069649] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000184588] [ENSMUST00000184849] [ENSMUST00000149163]
AlphaFold Q80YU0
Predicted Effect probably benign
Transcript: ENSMUST00000000844
SMART Domains Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 28 199 6.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069649
AA Change: D343G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: D343G

DomainStartEndE-ValueType
Pfam:Abhydrolase_1 174 339 2.9e-11 PFAM
Pfam:Abhydrolase_5 174 341 2.1e-13 PFAM
Pfam:Hydrolase_4 180 308 5.1e-9 PFAM
low complexity region 345 357 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069712
SMART Domains Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 27 193 5.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108799
SMART Domains Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 18 121 1.9e-38 PFAM
Pfam:TPD52 115 220 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108800
SMART Domains Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 27 179 2.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183956
Predicted Effect probably benign
Transcript: ENSMUST00000184588
Predicted Effect probably benign
Transcript: ENSMUST00000184849
SMART Domains Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 9 170 2.4e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149163
SMART Domains Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827

DomainStartEndE-ValueType
Pfam:TPD52 28 213 5.2e-54 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly damaging Het
Other mutations in Abhd16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Abhd16b APN 2 181,136,531 (GRCm39) unclassified probably benign
IGL02237:Abhd16b APN 2 181,135,350 (GRCm39) missense probably benign 0.00
PIT4486001:Abhd16b UTSW 2 181,135,752 (GRCm39) missense probably benign 0.39
R1760:Abhd16b UTSW 2 181,135,197 (GRCm39) missense probably damaging 1.00
R2077:Abhd16b UTSW 2 181,135,209 (GRCm39) missense probably benign 0.44
R3124:Abhd16b UTSW 2 181,136,319 (GRCm39) missense possibly damaging 0.70
R4779:Abhd16b UTSW 2 181,135,253 (GRCm39) missense possibly damaging 0.59
R5781:Abhd16b UTSW 2 181,135,947 (GRCm39) missense probably damaging 1.00
R6220:Abhd16b UTSW 2 181,135,578 (GRCm39) missense probably damaging 1.00
R6994:Abhd16b UTSW 2 181,135,461 (GRCm39) missense possibly damaging 0.94
R7305:Abhd16b UTSW 2 181,135,209 (GRCm39) missense possibly damaging 0.85
R7850:Abhd16b UTSW 2 181,135,518 (GRCm39) missense not run
R8115:Abhd16b UTSW 2 181,135,527 (GRCm39) missense possibly damaging 0.55
R8132:Abhd16b UTSW 2 181,135,760 (GRCm39) missense probably damaging 1.00
R8214:Abhd16b UTSW 2 181,135,983 (GRCm39) missense probably damaging 1.00
R8782:Abhd16b UTSW 2 181,136,208 (GRCm39) missense probably benign
R8975:Abhd16b UTSW 2 181,135,806 (GRCm39) missense probably benign 0.00
R9381:Abhd16b UTSW 2 181,135,881 (GRCm39) missense probably damaging 1.00
R9560:Abhd16b UTSW 2 181,135,103 (GRCm39) missense probably damaging 1.00
R9699:Abhd16b UTSW 2 181,136,518 (GRCm39) missense probably benign
X0052:Abhd16b UTSW 2 181,136,058 (GRCm39) missense probably damaging 1.00
X0066:Abhd16b UTSW 2 181,135,506 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16