Incidental Mutation 'R6881:Abhd16a'
ID 536690
Institutional Source Beutler Lab
Gene Symbol Abhd16a
Ensembl Gene ENSMUSG00000007036
Gene Name abhydrolase domain containing 16A
Synonyms NG26, D17H6S82E, Bat5
MMRRC Submission 045030-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # R6881 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35308239-35321963 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35315577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 208 (T208I)
Ref Sequence ENSEMBL: ENSMUSP00000007251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007251] [ENSMUST00000173846]
AlphaFold Q9Z1Q2
Predicted Effect probably benign
Transcript: ENSMUST00000007251
AA Change: T208I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: T208I

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 probably benign
Transcript: ENSMUST00000173846
SMART Domains Protein: ENSMUSP00000133505
Gene: ENSMUSG00000007036

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A C 9: 15,202,061 (GRCm39) C187G possibly damaging Het
Ahcyl1 A T 3: 107,575,425 (GRCm39) H425Q probably damaging Het
Ankrd22 T A 19: 34,126,782 (GRCm39) N16I probably damaging Het
Cc2d2b A G 19: 40,813,483 (GRCm39) E1321G probably damaging Het
Ccdc7b A G 8: 129,799,028 (GRCm39) E35G probably damaging Het
Chsy3 A G 18: 59,312,480 (GRCm39) I318V probably damaging Het
Clrn2 G A 5: 45,611,164 (GRCm39) W4* probably null Het
Cmip T C 8: 118,163,334 (GRCm39) I355T possibly damaging Het
Cmya5 C T 13: 93,226,800 (GRCm39) V2763M probably damaging Het
Cnnm2 T C 19: 46,865,658 (GRCm39) S749P probably damaging Het
Cyp1a1 G T 9: 57,608,002 (GRCm39) R210L possibly damaging Het
Dmxl1 G A 18: 50,068,372 (GRCm39) S2715N probably benign Het
Dync1h1 T C 12: 110,590,995 (GRCm39) L1021P probably damaging Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Galnt11 G T 5: 25,455,097 (GRCm39) K144N possibly damaging Het
Gm45861 A G 8: 28,025,279 (GRCm39) probably null Het
Kcnk18 T A 19: 59,208,390 (GRCm39) D75E probably benign Het
Kcnk2 C T 1: 188,942,187 (GRCm39) V346M probably benign Het
Klhl33 T A 14: 51,128,929 (GRCm39) M767L probably benign Het
Knl1 T C 2: 118,925,665 (GRCm39) I1898T possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lamp3 T C 16: 19,518,368 (GRCm39) T290A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Macf1 T A 4: 123,326,246 (GRCm39) I3521F probably damaging Het
Med12l T C 3: 59,174,586 (GRCm39) S1835P probably benign Het
Mef2c C A 13: 83,741,061 (GRCm39) N73K probably damaging Het
Mtmr3 T C 11: 4,439,725 (GRCm39) S572G probably benign Het
Neto2 A T 8: 86,367,185 (GRCm39) S520T probably damaging Het
Or10ak16 A G 4: 118,750,304 (GRCm39) N8S probably damaging Het
Or1o4 A G 17: 37,591,200 (GRCm39) L37S probably benign Het
Or4c110 A T 2: 88,832,281 (GRCm39) M117K probably damaging Het
P3h2 G A 16: 25,811,495 (GRCm39) R243C probably damaging Het
Pld1 T C 3: 28,132,563 (GRCm39) S584P possibly damaging Het
Prkcz T C 4: 155,353,513 (GRCm39) N278S possibly damaging Het
Radil A G 5: 142,472,672 (GRCm39) S913P probably benign Het
Retreg2 A C 1: 75,123,083 (GRCm39) Q337P probably damaging Het
Sh3gl3 A G 7: 81,956,178 (GRCm39) E305G possibly damaging Het
Shank1 G T 7: 44,001,217 (GRCm39) D979Y unknown Het
Slc35a5 A T 16: 44,964,443 (GRCm39) N263K possibly damaging Het
Slc4a7 A T 14: 14,737,452 (GRCm38) M127L probably benign Het
Slc8a2 G A 7: 15,891,282 (GRCm39) G774E probably damaging Het
Smim45 C A 15: 82,143,786 (GRCm39) H3N possibly damaging Het
Snap91 A G 9: 86,655,646 (GRCm39) S847P possibly damaging Het
Stoml1 T C 9: 58,168,177 (GRCm39) L296P probably damaging Het
Tap1 G T 17: 34,407,008 (GRCm39) G52V probably damaging Het
Tent4b T C 8: 88,977,416 (GRCm39) V363A possibly damaging Het
Tnfrsf11b T C 15: 54,117,539 (GRCm39) R239G probably benign Het
Ttn T C 2: 76,536,846 (GRCm39) Y34993C probably damaging Het
Uchl1 T C 5: 66,841,065 (GRCm39) F165L probably damaging Het
Xrcc1 C T 7: 24,246,776 (GRCm39) Q15* probably null Het
Zkscan7 C G 9: 122,717,766 (GRCm39) Q54E possibly damaging Het
Other mutations in Abhd16a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Abhd16a APN 17 35,310,013 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- ACTTCGACTTCAGGAGCTGG -3'
(R):5'- AGAACCTGCACAGTGACAGC -3'

Sequencing Primer
(F):5'- AGTCGACTTCCACTGGGAG -3'
(R):5'- ACCTCTGCTCCCGTTAGAGG -3'
Posted On 2018-10-18