Incidental Mutation 'R1487:Abhd13'
ID 163530
Institutional Source Beutler Lab
Gene Symbol Abhd13
Ensembl Gene ENSMUSG00000040396
Gene Name abhydrolase domain containing 13
Synonyms 1110065L07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 10027717-10042155 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 10037402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048216] [ENSMUST00000139793]
AlphaFold Q80UX8
Predicted Effect probably benign
Transcript: ENSMUST00000048216
SMART Domains Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396

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 benign
Transcript: ENSMUST00000139793
SMART Domains Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396

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: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A C 6: 146,854,877 (GRCm39) V55G probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mecom T C 3: 30,034,213 (GRCm39) T488A probably damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,460 (GRCm39) Y1968C probably damaging Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm3 A T 3: 89,997,389 (GRCm39) probably null Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp287 T C 11: 62,616,115 (GRCm39) K192R probably damaging Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N 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
R0350:Abhd13 UTSW 8 10,037,600 (GRCm39) missense probably damaging 1.00
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'- TGGAAGCAGGTAAGCATCATTTCACAG -3'
(R):5'- AGGCGCACTCCATCTTTGGTTC -3'

Sequencing Primer
(F):5'- CATCATTTCACAGTGGATGGG -3'
(R):5'- CTCCATCTTTGGTTCTGATGAAAATG -3'
Posted On 2014-03-28