Incidental Mutation 'R0350:Abhd13'
ID 29654
Institutional Source Beutler Lab
Gene Symbol Abhd13
Ensembl Gene ENSMUSG00000040396
Gene Name abhydrolase domain containing 13
Synonyms 1110065L07Rik
MMRRC Submission 038557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0350 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 10027717-10042155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10037600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 66 (Y66N)
Ref Sequence ENSEMBL: ENSMUSP00000116130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048216] [ENSMUST00000139793]
AlphaFold Q80UX8
Predicted Effect probably damaging
Transcript: ENSMUST00000048216
AA Change: Y66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396
AA Change: Y66N

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 39 58 N/A INTRINSIC
Pfam:Abhydrolase_5 116 299 5.6e-24 PFAM
Pfam:Abhydrolase_3 117 279 1.7e-6 PFAM
Pfam:Abhydrolase_6 117 310 4.9e-15 PFAM
Pfam:Abhydrolase_1 143 245 1.8e-8 PFAM
Pfam:AXE1 163 229 3.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139793
AA Change: Y66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396
AA Change: Y66N

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 39 58 N/A INTRINSIC
Pfam:Hydrolase_4 111 250 2.5e-11 PFAM
Pfam:Abhydrolase_1 115 237 3.2e-11 PFAM
Pfam:Abhydrolase_5 116 299 6.3e-24 PFAM
Pfam:Abhydrolase_6 117 241 2.9e-8 PFAM
Pfam:AXE1 162 229 9.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol6 C T 15: 76,935,147 (GRCm39) Q139* probably null Het
Armh1 C A 4: 117,072,753 (GRCm39) E244* probably null Het
Cd1d1 A T 3: 86,904,880 (GRCm39) H219Q probably benign Het
Cdca2 A G 14: 67,950,568 (GRCm39) L121P probably benign Het
Cdin1 T C 2: 115,607,411 (GRCm39) Y255H possibly damaging Het
Cog4 T A 8: 111,580,328 (GRCm39) L133I possibly damaging Het
Csf1 T C 3: 107,655,922 (GRCm39) M370V probably benign Het
Ddi2 G A 4: 141,412,834 (GRCm39) T26M probably benign Het
Dhcr7 A G 7: 143,391,507 (GRCm39) D32G probably damaging Het
Efcab3 T C 11: 104,581,706 (GRCm39) V16A probably benign Het
Exd1 T C 2: 119,354,047 (GRCm39) N337S possibly damaging Het
Flii T C 11: 60,612,683 (GRCm39) D227G probably damaging Het
Hsf1 A G 15: 76,384,679 (GRCm39) T485A probably benign Het
Igfn1 G A 1: 135,884,505 (GRCm39) R2614* probably null Het
Iqch T C 9: 63,408,158 (GRCm39) T630A probably benign Het
Itgal T A 7: 126,921,253 (GRCm39) D770E probably damaging Het
Mroh1 T A 15: 76,316,449 (GRCm39) V759E probably damaging Het
Mrps17 A G 5: 129,795,209 (GRCm39) probably benign Het
Mtpap A G 18: 4,396,195 (GRCm39) S496G possibly damaging Het
Nkd1 T A 8: 89,311,844 (GRCm39) Y39* probably null Het
Nmd3 A G 3: 69,650,907 (GRCm39) Y359C probably damaging Het
Nr1h3 G A 2: 91,022,170 (GRCm39) L153F possibly damaging Het
Nuf2 T A 1: 169,341,112 (GRCm39) probably null Het
Or4b1b T C 2: 90,112,926 (GRCm39) probably null Het
Or4c113 T A 2: 88,885,700 (GRCm39) K23N probably benign Het
Or8b12i A T 9: 20,082,032 (GRCm39) Y278* probably null Het
Pnn T C 12: 59,113,903 (GRCm39) probably null Het
Ppm1j A G 3: 104,690,687 (GRCm39) D230G probably benign Het
Ppp1r15a A T 7: 45,172,442 (GRCm39) L650Q probably damaging Het
Prss37 T C 6: 40,491,893 (GRCm39) E229G probably damaging Het
Rbm19 T C 5: 120,266,372 (GRCm39) V465A possibly damaging Het
Rubcnl G T 14: 75,278,331 (GRCm39) V372F probably damaging Het
Sema6a G T 18: 47,403,785 (GRCm39) D595E probably benign Het
Slc35c1 A G 2: 92,289,377 (GRCm39) F43S probably damaging Het
Slc39a5 C T 10: 128,232,619 (GRCm39) probably null Het
Slco4c1 A G 1: 96,756,574 (GRCm39) F583L probably benign Het
Sox9 A G 11: 112,675,702 (GRCm39) Y297C probably damaging Het
Taf1b A G 12: 24,564,884 (GRCm39) D167G possibly damaging Het
Trpm6 T C 19: 18,861,321 (GRCm39) probably null Het
Uba6 A C 5: 86,292,237 (GRCm39) V402G possibly damaging Het
Usp43 T C 11: 67,767,324 (GRCm39) Y682C probably damaging Het
Vmn1r195 A G 13: 22,463,403 (GRCm39) D291G probably damaging Het
Xpr1 A T 1: 155,206,214 (GRCm39) F156Y probably damaging Het
Yju2b C T 8: 84,987,277 (GRCm39) E99K probably damaging Het
Zfp318 T A 17: 46,724,124 (GRCm39) H2042Q probably benign Het
Zfp937 T A 2: 150,081,222 (GRCm39) D417E possibly damaging Het
Other mutations in Abhd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Abhd13 APN 8 10,037,900 (GRCm39) missense possibly damaging 0.86
PIT4243001:Abhd13 UTSW 8 10,037,967 (GRCm39) missense possibly damaging 0.89
R0242:Abhd13 UTSW 8 10,037,561 (GRCm39) missense probably benign 0.00
R0242:Abhd13 UTSW 8 10,037,561 (GRCm39) missense probably benign 0.00
R1487:Abhd13 UTSW 8 10,037,402 (GRCm39) start gained probably benign
R1906:Abhd13 UTSW 8 10,038,170 (GRCm39) missense probably benign 0.11
R1907:Abhd13 UTSW 8 10,038,170 (GRCm39) missense probably benign 0.11
R2901:Abhd13 UTSW 8 10,038,231 (GRCm39) missense probably damaging 1.00
R3105:Abhd13 UTSW 8 10,037,931 (GRCm39) missense probably benign 0.05
R3413:Abhd13 UTSW 8 10,037,387 (GRCm39) splice site probably benign
R4569:Abhd13 UTSW 8 10,038,071 (GRCm39) missense possibly damaging 0.94
R5586:Abhd13 UTSW 8 10,038,318 (GRCm39) missense probably benign 0.23
R6373:Abhd13 UTSW 8 10,038,240 (GRCm39) missense probably damaging 1.00
R6526:Abhd13 UTSW 8 10,037,777 (GRCm39) missense probably damaging 1.00
R6776:Abhd13 UTSW 8 10,038,075 (GRCm39) missense probably benign 0.03
R7315:Abhd13 UTSW 8 10,037,970 (GRCm39) missense probably damaging 1.00
R8235:Abhd13 UTSW 8 10,037,394 (GRCm39) start gained probably benign
R9656:Abhd13 UTSW 8 10,037,991 (GRCm39) missense possibly damaging 0.88
Z1176:Abhd13 UTSW 8 10,037,413 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGACCTGACCTTGAAGTAGAGGTG -3'
(R):5'- CAGCATTAGCAGTGCGTTTGGTAAC -3'

Sequencing Primer
(F):5'- AAATCCTGGATGCTGTGGAGC -3'
(R):5'- TTGGTAACCTGTGGCCTATG -3'
Posted On 2013-04-24