Mutagenetix > Incidental Mutation

Incidental Mutation 'R5338:Abhd16a'

423666

Institutional Source

Beutler Lab

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 #

R5338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35308239-35321963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35313278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 132 (E132G)

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: E132G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: E132G

Domain	Start	End	E-Value	Type
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: ENSMUST00000172584

SMART Domains

Protein: ENSMUSP00000133610
Gene: ENSMUSG00000007036

Domain	Start	End	E-Value	Type
SCOP:d1imja_	33	101	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173134

SMART Domains

Protein: ENSMUSP00000133278
Gene: ENSMUSG00000007036

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,597 (GRCm39)	N252K	probably damaging	Het
Adgrv1	G	A	13: 81,677,165 (GRCm39)	R1889W	possibly damaging	Het
Aftph	A	T	11: 20,677,203 (GRCm39)	D135E	probably benign	Het
Arf1	A	C	11: 59,104,041 (GRCm39)	F63V	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
B3gnt7	T	A	1: 86,233,366 (GRCm39)	F87Y	probably damaging	Het
Bcat1	A	G	6: 144,953,353 (GRCm39)	Y345H	possibly damaging	Het
Birc2	G	T	9: 7,857,360 (GRCm39)	T371K	probably benign	Het
Ccdc175	A	T	12: 72,231,745 (GRCm39)	S5T	probably damaging	Het
Ccdc186	A	T	19: 56,801,689 (GRCm39)	S143T	possibly damaging	Het
Cct6b	A	T	11: 82,653,015 (GRCm39)	M28K	possibly damaging	Het
Cers4	C	A	8: 4,565,680 (GRCm39)	A42D	probably damaging	Het
Crmp1	G	T	5: 37,437,018 (GRCm39)	V236L	probably benign	Het
Ctdspl2	T	A	2: 121,811,793 (GRCm39)	N212K	probably benign	Het
Dclk3	T	C	9: 111,298,127 (GRCm39)	V557A	possibly damaging	Het
Dnmt1	A	T	9: 20,864,015 (GRCm39)	H23Q	probably benign	Het
Dpp8	G	T	9: 64,971,206 (GRCm39)	E609*	probably null	Het
Dtx3	C	A	10: 127,028,919 (GRCm39)	M106I	probably benign	Het
Ero1b	A	C	13: 12,589,732 (GRCm39)	D45A	probably damaging	Het
Fcho2	T	A	13: 98,867,399 (GRCm39)	D688V	probably damaging	Het
Fhod3	A	T	18: 25,161,138 (GRCm39)	S557C	probably damaging	Het
Flnc	T	C	6: 29,444,063 (GRCm39)	S626P	possibly damaging	Het
Foxi3	G	T	6: 70,937,602 (GRCm39)	G278V	probably damaging	Het
Gbp10	A	G	5: 105,372,166 (GRCm39)	L198P	probably damaging	Het
Gcn1	A	G	5: 115,721,462 (GRCm39)	T458A	probably benign	Het
Gigyf1	C	T	5: 137,521,422 (GRCm39)		probably benign	Het
Gtpbp2	A	C	17: 46,478,760 (GRCm39)	T526P	probably damaging	Het
Gys2	A	G	6: 142,400,239 (GRCm39)	L324S	probably damaging	Het
Hpn	C	A	7: 30,802,781 (GRCm39)	V119L	probably benign	Het
Ino80d	C	A	1: 63,098,098 (GRCm39)	V599L	probably benign	Het
Kcnh3	G	T	15: 99,140,275 (GRCm39)	G1054*	probably null	Het
Maml1	A	T	11: 50,157,778 (GRCm39)	D132E	probably benign	Het
Mastl	A	T	2: 23,023,503 (GRCm39)	S407T	probably benign	Het
Mettl1	T	C	10: 126,878,954 (GRCm39)	W3R	probably damaging	Het
Mprip	A	G	11: 59,651,399 (GRCm39)	Y1701C	probably damaging	Het
Mylk3	T	C	8: 86,069,350 (GRCm39)	N484D	probably damaging	Het
Nod2	G	A	8: 89,399,413 (GRCm39)		probably null	Het
Nrde2	A	T	12: 100,097,037 (GRCm39)	F921Y	probably damaging	Het
Nup88	G	T	11: 70,835,734 (GRCm39)	T575N	probably damaging	Het
Nxpe3	T	C	16: 55,686,706 (GRCm39)	T101A	possibly damaging	Het
Or1o3	T	A	17: 37,574,532 (GRCm39)	T8S	probably benign	Het
Or2r11	A	G	6: 42,437,908 (GRCm39)	M15T	probably benign	Het
Or4c109	C	T	2: 88,817,809 (GRCm39)	V246I	possibly damaging	Het
Or52e15	A	G	7: 104,645,514 (GRCm39)	L199S	possibly damaging	Het
Or8g32	A	T	9: 39,305,371 (GRCm39)	I92F	probably damaging	Het
Pcnx3	A	T	19: 5,722,624 (GRCm39)	L1356Q	probably damaging	Het
Pkd1	A	T	17: 24,813,510 (GRCm39)	M4017L	probably benign	Het
Polg2	A	G	11: 106,670,064 (GRCm39)	C69R	possibly damaging	Het
Prr5l	T	G	2: 101,547,452 (GRCm39)	S358R	probably benign	Het
Ptprg	A	G	14: 12,154,111 (GRCm38)	T611A	probably benign	Het
Ryk	G	T	9: 102,774,516 (GRCm39)	E417*	probably null	Het
Sbp	T	C	17: 24,161,396 (GRCm39)		probably benign	Het
Sema4a	T	C	3: 88,358,804 (GRCm39)	T155A	probably benign	Het
Shank3	A	G	15: 89,415,914 (GRCm39)		probably null	Het
Slc35d2	A	T	13: 64,245,496 (GRCm39)	M294K	possibly damaging	Het
Slc41a3	A	T	6: 90,589,153 (GRCm39)	N88I	possibly damaging	Het
Slit3	A	G	11: 35,512,975 (GRCm39)	T534A	probably benign	Het
Ssx2ip	A	G	3: 146,142,296 (GRCm39)		probably null	Het
Stard13	T	C	5: 150,983,063 (GRCm39)	K648R	probably damaging	Het
Tanc1	A	T	2: 59,626,178 (GRCm39)	T512S	probably damaging	Het
Tbcc	T	C	17: 47,202,082 (GRCm39)	V156A	probably benign	Het
Terf1	T	G	1: 15,901,787 (GRCm39)	I273R	possibly damaging	Het
Tesc	A	G	5: 118,197,523 (GRCm39)	Y179C	probably damaging	Het
Ttc3	T	G	16: 94,184,900 (GRCm39)	V40G	probably damaging	Het
Tysnd1	T	A	10: 61,532,028 (GRCm39)	F227I	probably damaging	Het
Vps53	T	C	11: 75,972,034 (GRCm39)	E271G	probably damaging	Het
Wdfy4	C	T	14: 32,812,823 (GRCm39)	R1650H	probably damaging	Het

Other mutations in Abhd16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTTCCCACCTAAGAGGC -3'
(R):5'- CAATGTCCTGCCAAGTATCCAC -3'

Sequencing Primer
(F):5'- TAAGAGGCCCTGCTGCTG -3'
(R):5'- GACAGTTCACTTCGAGAGGC -3'

Posted On

2016-08-04