Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Abhd16a'

628340

Institutional Source

Beutler Lab

Gene Symbol

Abhd16a

Ensembl Gene

ENSMUSG00000007036

Gene Name

abhydrolase domain containing 16A

Synonyms

NG26, D17H6S82E, Bat5

MMRRC Submission

045713-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35308239-35321963 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 35320936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007251 (fasta)

Gene Model

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

AlphaFold

Q9Z1Q2

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
Abca6	T	C	11: 110,071,084 (GRCm39)	K1536E	possibly damaging	Het
Actrt3	C	T	3: 30,652,696 (GRCm39)	A133T	probably benign	Het
Adcy10	C	T	1: 165,391,806 (GRCm39)	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,307,656 (GRCm39)	M280V	possibly damaging	Het
Canx	A	T	11: 50,202,455 (GRCm39)	D50E	probably benign	Het
Csmd1	A	T	8: 16,338,696 (GRCm39)	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,003,369 (GRCm39)	D269N	probably damaging	Het
Ddah1	T	C	3: 145,464,774 (GRCm39)	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fastkd5	A	G	2: 130,456,961 (GRCm39)	V543A	possibly damaging	Het
Fggy	G	A	4: 95,657,743 (GRCm39)	G295R	probably damaging	Het
Frs2	T	C	10: 116,909,968 (GRCm39)	T465A	probably benign	Het
Glipr1	A	T	10: 111,824,737 (GRCm39)	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,622,074 (GRCm39)	V40I	probably benign	Het
H2-Q7	T	C	17: 35,658,939 (GRCm39)	L130P	probably damaging	Het
Herc1	T	A	9: 66,358,665 (GRCm39)	L86*	probably null	Het
Hspg2	T	C	4: 137,275,679 (GRCm39)	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,284,503 (GRCm39)	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,515,716 (GRCm39)	I441L	probably benign	Het
Ints7	A	T	1: 191,328,336 (GRCm39)	H203L	probably damaging	Het
Lama2	T	C	10: 27,142,676 (GRCm39)	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,017,856 (GRCm39)		probably benign	Het
Lmbr1l	G	A	15: 98,806,572 (GRCm39)	Q280*	probably null	Het
Lpin3	G	T	2: 160,745,674 (GRCm39)		probably null	Het
Map1lc3b	A	T	8: 122,320,268 (GRCm39)	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,427,532 (GRCm39)	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,056,641 (GRCm39)	A123V	probably benign	Het
Nek9	A	G	12: 85,350,288 (GRCm39)	F929L	probably benign	Het
Nup210	A	T	6: 91,053,679 (GRCm39)	D279E	probably benign	Het
Or52m2	A	G	7: 102,264,145 (GRCm39)	V17A	probably benign	Het
Parp1	T	C	1: 180,427,777 (GRCm39)		probably null	Het
Phc3	T	C	3: 30,961,601 (GRCm39)	I944V	probably damaging	Het
Phf20	C	T	2: 156,144,771 (GRCm39)	A793V	probably benign	Het
Phf21a	A	C	2: 92,187,352 (GRCm39)	R540S	probably benign	Het
Pogk	A	G	1: 166,229,480 (GRCm39)	C124R	probably benign	Het
Rif1	C	T	2: 51,966,187 (GRCm39)	S93L	probably damaging	Het
Sanbr	T	C	11: 23,516,191 (GRCm39)	T709A	probably benign	Het
Sele	A	G	1: 163,877,084 (GRCm39)	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,703,539 (GRCm39)	L49P		Het
Snap47	T	C	11: 59,319,373 (GRCm39)	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,779,146 (GRCm39)	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,020,092 (GRCm39)	Y453*	probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,901,486 (GRCm39)	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,685,790 (GRCm39)	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,585 (GRCm39)	S998P	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
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
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'- TGAGCCCGTGCCCTTAAATC -3'
(R):5'- ACCTTCCTCTAGCTGGGAAG -3'

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

Posted On

2020-03-09