Incidental Mutation 'R6373:Abhd13'
ID 513629
Institutional Source Beutler Lab
Gene Symbol Abhd13
Ensembl Gene ENSMUSG00000040396
Gene Name abhydrolase domain containing 13
Synonyms 1110065L07Rik
MMRRC Submission 044523-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6373 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 10027717-10042155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10038240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 279 (L279P)
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: L279P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396
AA Change: L279P

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: L279P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396
AA Change: L279P

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
Meta Mutation Damage Score 0.9678 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 95% (37/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C G 7: 44,795,695 (GRCm39) V373L probably benign Het
Btn2a2 T C 13: 23,665,999 (GRCm39) K278E probably benign Het
Carns1 G T 19: 4,216,515 (GRCm39) Q556K probably benign Het
Chd1 A T 17: 15,958,898 (GRCm39) E650V probably damaging Het
Cobl A G 11: 12,203,118 (GRCm39) S1195P probably damaging Het
Deup1 T C 9: 15,472,638 (GRCm39) H464R probably damaging Het
Eva1a T C 6: 82,068,847 (GRCm39) L58S probably damaging Het
Fign A C 2: 63,809,989 (GRCm39) M427R probably benign Het
Gm6309 A T 5: 146,107,085 (GRCm39) I87N probably damaging Het
H2ac7 A G 13: 23,759,027 (GRCm39) K128R probably benign Het
Helz A G 11: 107,486,010 (GRCm39) T140A probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Kif16b A T 2: 142,541,618 (GRCm39) H1227Q possibly damaging Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mex3c T C 18: 73,723,065 (GRCm39) M386T probably benign Het
Myh11 T A 16: 14,022,994 (GRCm39) I1644F possibly damaging Het
Nav2 C T 7: 49,102,923 (GRCm39) P513S probably damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nmt2 A G 2: 3,325,988 (GRCm39) T462A probably benign Het
Nrxn2 T C 19: 6,559,860 (GRCm39) I163T probably damaging Het
Nrxn3 G C 12: 89,943,237 (GRCm39) G122R probably damaging Het
Or1e26 A G 11: 73,479,724 (GRCm39) V280A probably benign Het
Or5d20-ps1 T C 2: 87,932,189 (GRCm39) I47M possibly damaging Het
Parg T G 14: 31,931,454 (GRCm39) probably null Het
Pcdhb7 T A 18: 37,475,264 (GRCm39) C133* probably null Het
Ppihl A G 5: 44,070,893 (GRCm39) T127A probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Rpe T C 1: 66,755,139 (GRCm39) F174L probably benign Het
Rxrb A G 17: 34,252,533 (GRCm39) N40S probably benign Het
Ryr3 C A 2: 112,486,889 (GRCm39) G3840W probably damaging Het
Smurf2 A G 11: 106,724,595 (GRCm39) L529P probably damaging Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spink5 A G 18: 44,123,739 (GRCm39) E342G probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syce1l T A 8: 114,376,143 (GRCm39) M31K probably benign Het
Ttn C T 2: 76,618,960 (GRCm39) V14394I probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Vangl1 T C 3: 102,065,764 (GRCm39) K407R probably benign Het
Vmn1r19 T C 6: 57,382,317 (GRCm39) I290T unknown 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
R0350:Abhd13 UTSW 8 10,037,600 (GRCm39) missense probably damaging 1.00
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
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'- TTTCAGCCATCATGGTGGAG -3'
(R):5'- CCAAGGCATCCATCAAGAGG -3'

Sequencing Primer
(F):5'- TGGAGAACACATTCCTAAGCATAC -3'
(R):5'- TCAAGAGGATGGCATCAGATG -3'
Posted On 2018-04-27