Incidental Mutation 'IGL01543:Abhd16a'
ID 90224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd16a
Ensembl Gene ENSMUSG00000007036
Gene Name abhydrolase domain containing 16A
Synonyms NG26, D17H6S82E, Bat5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # IGL01543
Quality Score
Status
Chromosome 17
Chromosomal Location 35308239-35321963 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35310013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 69 (S69P)
Ref Sequence ENSEMBL: ENSMUSP00000007251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007251] [ENSMUST00000173846]
AlphaFold Q9Z1Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000007251
AA Change: S69P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: S69P

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
low complexity region 165 179 N/A INTRINSIC
Pfam:Abhydrolase_1 280 415 6.3e-10 PFAM
Pfam:Abhydrolase_5 282 465 4.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173134
SMART Domains Protein: ENSMUSP00000133278
Gene: ENSMUSG00000007036

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
transmembrane domain 61 83 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173190
Predicted Effect probably benign
Transcript: ENSMUST00000173846
SMART Domains Protein: ENSMUSP00000133505
Gene: ENSMUSG00000007036

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, decreased body size and weight, and decreased brain lysophosphatidylserines. Macrophages display a reduction in lysophosphatidylserines and LPS-induced cytokine production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,097 (GRCm39) I204T probably benign Het
Ampd1 C T 3: 103,003,029 (GRCm39) T582I probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Arid1a A T 4: 133,409,033 (GRCm39) F1825I unknown Het
Asxl1 G A 2: 153,243,404 (GRCm39) G1318D probably benign Het
B4galnt3 G A 6: 120,186,273 (GRCm39) H807Y probably benign Het
Bpifb5 G T 2: 154,075,169 (GRCm39) V366F possibly damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Ccdc152 G A 15: 3,327,606 (GRCm39) T57I possibly damaging Het
Ccs T C 19: 4,884,269 (GRCm39) E61G possibly damaging Het
Chsy3 G A 18: 59,543,472 (GRCm39) W870* probably null Het
Col8a1 G A 16: 57,448,097 (GRCm39) P471L unknown Het
Cyp2j6 A C 4: 96,414,161 (GRCm39) V368G possibly damaging Het
Dnajc3 T C 14: 119,198,274 (GRCm39) probably null Het
Dpep3 A T 8: 106,702,814 (GRCm39) M316K probably damaging Het
Galntl5 A G 5: 25,400,349 (GRCm39) E126G probably damaging Het
Gli1 T C 10: 127,168,347 (GRCm39) N502S probably damaging Het
Hus1 A G 11: 8,950,082 (GRCm39) L213P probably benign Het
Hypk A G 2: 121,287,776 (GRCm39) probably null Het
Igkv4-59 T A 6: 69,415,345 (GRCm39) Y70F probably damaging Het
Impdh1 A C 6: 29,203,377 (GRCm39) V14G probably damaging Het
Kif26b A G 1: 178,506,526 (GRCm39) M201V probably benign Het
Macf1 A G 4: 123,295,250 (GRCm39) I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 (GRCm39) A244V probably damaging Het
Obscn T C 11: 58,932,943 (GRCm39) D5619G probably benign Het
Or2ag20 T C 7: 106,465,125 (GRCm39) S313P probably benign Het
Pcdh7 T C 5: 57,878,107 (GRCm39) V554A probably damaging Het
Piezo2 T C 18: 63,203,101 (GRCm39) E1513G probably damaging Het
Rab6b A G 9: 103,039,837 (GRCm39) D75G probably damaging Het
Ryr1 T C 7: 28,790,501 (GRCm39) Y1435C probably damaging Het
Scarf2 A G 16: 17,620,413 (GRCm39) N81S probably damaging Het
Six5 G A 7: 18,830,272 (GRCm39) A300T possibly damaging Het
Skap2 T A 6: 51,989,375 (GRCm39) N3Y possibly damaging Het
Skint6 A T 4: 112,757,160 (GRCm39) S734T probably benign Het
Slc15a4 A C 5: 127,680,830 (GRCm39) H396Q probably benign Het
Slco6c1 A G 1: 97,053,553 (GRCm39) M116T possibly damaging Het
Slfn9 T C 11: 82,878,775 (GRCm39) D118G probably benign Het
Trim3 T C 7: 105,262,520 (GRCm39) D546G probably damaging Het
Trpa1 A G 1: 14,970,300 (GRCm39) L362P probably damaging Het
Vasn A G 16: 4,467,756 (GRCm39) T568A possibly damaging Het
Vwa5b2 A G 16: 20,414,466 (GRCm39) M281V probably benign Het
Wwp2 A G 8: 108,210,000 (GRCm39) E126G probably damaging Het
Zfp398 G A 6: 47,842,997 (GRCm39) G350S probably damaging Het
Other mutations in Abhd16a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Abhd16a APN 17 35,315,459 (GRCm39) missense probably benign 0.00
IGL01955:Abhd16a APN 17 35,320,316 (GRCm39) missense probably damaging 1.00
IGL02563:Abhd16a APN 17 35,320,221 (GRCm39) missense probably damaging 1.00
deprived UTSW 17 35,317,785 (GRCm39) critical splice donor site probably null
downtrodden UTSW 17 35,320,827 (GRCm39) missense probably benign 0.12
R0765:Abhd16a UTSW 17 35,320,827 (GRCm39) missense probably benign 0.12
R1931:Abhd16a UTSW 17 35,319,991 (GRCm39) missense probably benign 0.00
R3788:Abhd16a UTSW 17 35,320,563 (GRCm39) missense probably damaging 0.99
R3789:Abhd16a UTSW 17 35,320,563 (GRCm39) missense probably damaging 0.99
R4567:Abhd16a UTSW 17 35,315,499 (GRCm39) missense probably damaging 1.00
R4587:Abhd16a UTSW 17 35,320,063 (GRCm39) critical splice donor site probably null
R4701:Abhd16a UTSW 17 35,315,582 (GRCm39) critical splice donor site probably null
R4736:Abhd16a UTSW 17 35,320,859 (GRCm39) missense probably benign 0.01
R4959:Abhd16a UTSW 17 35,321,318 (GRCm39) missense probably benign 0.26
R4973:Abhd16a UTSW 17 35,321,318 (GRCm39) missense probably benign 0.26
R5338:Abhd16a UTSW 17 35,313,278 (GRCm39) missense probably damaging 1.00
R5896:Abhd16a UTSW 17 35,310,701 (GRCm39) intron probably benign
R6092:Abhd16a UTSW 17 35,317,786 (GRCm39) critical splice donor site probably null
R6533:Abhd16a UTSW 17 35,317,785 (GRCm39) critical splice donor site probably null
R6881:Abhd16a UTSW 17 35,315,577 (GRCm39) missense probably benign 0.00
R7603:Abhd16a UTSW 17 35,320,936 (GRCm39) splice site probably null
R7972:Abhd16a UTSW 17 35,320,287 (GRCm39) missense probably damaging 0.99
R8466:Abhd16a UTSW 17 35,313,236 (GRCm39) missense probably damaging 1.00
R8721:Abhd16a UTSW 17 35,310,571 (GRCm39) missense possibly damaging 0.95
Z1177:Abhd16a UTSW 17 35,321,451 (GRCm39) missense probably damaging 1.00
Z1177:Abhd16a UTSW 17 35,317,977 (GRCm39) critical splice donor site probably null
Posted On 2013-12-03