Mutagenetix > Incidental Mutation

Incidental Mutation 'R8466:Abhd16a'

656857

Institutional Source

Beutler Lab

Gene Symbol

Abhd16a

Ensembl Gene

ENSMUSG00000007036

Gene Name

abhydrolase domain containing 16A

Synonyms

NG26, D17H6S82E, Bat5

MMRRC Submission

067910-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R8466 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35308239-35321963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35313236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 118 (R118L)

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: R118L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: R118L

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

Coding Region Coverage

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,873 (GRCm39)	E94G	probably benign	Het
Adamts1	A	G	16: 85,599,400 (GRCm39)	S67P	probably benign	Het
Adar	C	T	3: 89,658,466 (GRCm39)	P656L	probably damaging	Het
Afg3l1	G	A	8: 124,216,648 (GRCm39)	D296N	probably benign	Het
Akap9	G	A	5: 4,088,659 (GRCm39)	R2096Q	probably damaging	Het
Aldh1a2	T	A	9: 71,160,205 (GRCm39)	I77K	probably benign	Het
Cacnb4	A	C	2: 52,354,679 (GRCm39)	V233G	probably damaging	Het
Cage1	T	A	13: 38,206,987 (GRCm39)	Q286L	probably damaging	Het
Camta1	T	A	4: 151,170,577 (GRCm39)	K1055*	probably null	Het
Ccdc96	C	A	5: 36,642,252 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,160,073 (GRCm39)		probably null	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Ddx24	G	T	12: 103,376,160 (GRCm39)	L779I	probably benign	Het
Dock7	T	C	4: 98,952,336 (GRCm39)	E378G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Flnc	A	G	6: 29,438,621 (GRCm39)	N172D	probably damaging	Het
Gprin3	C	A	6: 59,331,466 (GRCm39)	Q280H	possibly damaging	Het
Gprin3	T	A	6: 59,331,467 (GRCm39)	Q280L	probably benign	Het
Gucy2d	C	A	7: 98,099,237 (GRCm39)	P351Q	probably damaging	Het
H2-M11	G	A	17: 36,858,985 (GRCm39)	G175D	probably benign	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lama1	G	A	17: 68,120,948 (GRCm39)	E2695K		Het
Lsg1	T	C	16: 30,400,919 (GRCm39)	Q130R	probably benign	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Muc16	T	C	9: 18,554,444 (GRCm39)	T3950A	unknown	Het
Myo1c	G	A	11: 75,549,213 (GRCm39)	R109H	probably damaging	Het
Nol4	C	A	18: 23,171,638 (GRCm39)	A8S	probably benign	Het
Or1e1f	A	T	11: 73,855,913 (GRCm39)	T160S	probably damaging	Het
Or1p1b	A	G	11: 74,131,016 (GRCm39)	I209V	probably benign	Het
Pabpn1l	C	T	8: 123,347,625 (GRCm39)	V216M	possibly damaging	Het
Papln	A	C	12: 83,825,255 (GRCm39)		probably null	Het
Pcsk5	A	T	19: 17,549,864 (GRCm39)	C709*	probably null	Het
Pglyrp3	T	A	3: 91,921,941 (GRCm39)	V3E	probably benign	Het
Pla2g4f	T	C	2: 120,130,963 (GRCm39)	N831D	probably damaging	Het
Prp2rt	T	C	13: 97,235,492 (GRCm39)	D85G	probably damaging	Het
Prss22	T	C	17: 24,215,802 (GRCm39)	D40G	probably benign	Het
Rap1gap2	A	G	11: 74,316,057 (GRCm39)	F208S	probably benign	Het
Sipa1l2	A	T	8: 126,218,985 (GRCm39)	N117K	probably damaging	Het
Srsf9	G	C	5: 115,465,492 (GRCm39)	R42P	probably benign	Het
Stat3	A	T	11: 100,785,924 (GRCm39)	I451N	probably damaging	Het
Tecrl	A	T	5: 83,428,367 (GRCm39)	Y301*	probably null	Het
Togaram1	T	C	12: 65,033,216 (GRCm39)	S1065P	probably benign	Het
Usp48	T	A	4: 137,350,630 (GRCm39)	L39Q	probably null	Het
Utp20	A	T	10: 88,654,365 (GRCm39)	S241T	probably damaging	Het
Vmn2r50	A	G	7: 9,783,997 (GRCm39)	F159S	probably damaging	Het
Wdr76	A	C	2: 121,341,038 (GRCm39)	N28H	probably damaging	Het
Zfhx2	T	A	14: 55,310,353 (GRCm39)	Y731F	possibly damaging	Het
Zfhx4	A	T	3: 5,307,762 (GRCm39)	E329D	probably damaging	Het
Zswim8	A	T	14: 20,760,744 (GRCm39)	Q83L	possibly 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
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
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'- TCTGTGCAGGAAAGAAAAGTTCTG -3'
(R):5'- AGGAAGGACAGTTCACTTCGAG -3'

Sequencing Primer
(F):5'- AAGTTCTGTTTCCCACCTAAGAGG -3'
(R):5'- ACAGTTCACTTCGAGAGGCCATG -3'

Posted On

2021-01-18