Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Abhd16a'

628340

Institutional Source

Beutler Lab

Gene Symbol

Abhd16a

Ensembl Gene

ENSMUSG00000007036

Gene Name

abhydrolase domain containing 16A

Synonyms

D17H6S82E, Bat5, NG26

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35089263-35102987 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 35101960 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007251] [ENSMUST00000173846]

Predicted Effect

probably null
Transcript: ENSMUST00000007251

SMART Domains

Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036

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

probably benign
Transcript: ENSMUST00000173846

SMART Domains

Protein: ENSMUSP00000133505
Gene: ENSMUSG00000007036

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Abhd16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Abhd16a	APN	17	35091037	missense	probably damaging	0.96
IGL01943:Abhd16a	APN	17	35096483	missense	probably benign	0.00
IGL01955:Abhd16a	APN	17	35101340	missense	probably damaging	1.00
IGL02563:Abhd16a	APN	17	35101245	missense	probably damaging	1.00
deprived	UTSW	17	35098809	critical splice donor site	probably null
downtrodden	UTSW	17	35101851	missense	probably benign	0.12
R0765:Abhd16a	UTSW	17	35101851	missense	probably benign	0.12
R1931:Abhd16a	UTSW	17	35101015	missense	probably benign	0.00
R3788:Abhd16a	UTSW	17	35101587	missense	probably damaging	0.99
R3789:Abhd16a	UTSW	17	35101587	missense	probably damaging	0.99
R4567:Abhd16a	UTSW	17	35096523	missense	probably damaging	1.00
R4587:Abhd16a	UTSW	17	35101087	critical splice donor site	probably null
R4701:Abhd16a	UTSW	17	35096606	critical splice donor site	probably null
R4736:Abhd16a	UTSW	17	35101883	missense	probably benign	0.01
R4959:Abhd16a	UTSW	17	35102342	missense	probably benign	0.26
R4973:Abhd16a	UTSW	17	35102342	missense	probably benign	0.26
R5338:Abhd16a	UTSW	17	35094302	missense	probably damaging	1.00
R5896:Abhd16a	UTSW	17	35091725	intron	probably benign
R6092:Abhd16a	UTSW	17	35098810	critical splice donor site	probably null
R6533:Abhd16a	UTSW	17	35098809	critical splice donor site	probably null
R6881:Abhd16a	UTSW	17	35096601	missense	probably benign	0.00
R7972:Abhd16a	UTSW	17	35101311	missense	probably damaging	0.99
R8466:Abhd16a	UTSW	17	35094260	missense	probably damaging	1.00
R8721:Abhd16a	UTSW	17	35091595	missense	possibly damaging	0.95
Z1177:Abhd16a	UTSW	17	35099001	critical splice donor site	probably null
Z1177:Abhd16a	UTSW	17	35102475	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCCCGTGCCCTTAAATC -3'
(R):5'- ACCTTCCTCTAGCTGGGAAG -3'

Sequencing Primer
(F):5'- ACTCCTGCCTCAGCTGTGG -3'
(R):5'- TCTAGCTGGGAAGAGGCCTC -3'

Posted On

2020-03-09