Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Abhd16a'

457560

Institutional Source

Beutler Lab

Gene Symbol

Abhd16a

Ensembl Gene

ENSMUSG00000007036

Gene Name

abhydrolase domain containing 16A

Synonyms

NG26, D17H6S82E, Bat5

MMRRC Submission

044095-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

R5896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35308239-35321963 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 35310701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133505 (fasta)

Gene Model

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

AlphaFold

Q9Z1Q2

Predicted Effect

probably benign
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

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: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,504,321 (GRCm39)	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,288,664 (GRCm39)	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,383,632 (GRCm39)	Q778*	probably null	Het
Acp6	A	G	3: 97,075,810 (GRCm39)	K226R	probably benign	Het
Ankfy1	A	G	11: 72,650,811 (GRCm39)	D998G	probably damaging	Het
Apbb1	G	T	7: 105,223,432 (GRCm39)	P60T	probably damaging	Het
Apol9a	T	A	15: 77,288,705 (GRCm39)	I221F	probably benign	Het
Arhgap29	A	G	3: 121,805,736 (GRCm39)	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,523,934 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccdc93	G	T	1: 121,390,849 (GRCm39)	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,713,433 (GRCm39)	D191G	probably benign	Het
Cimip2a	A	T	2: 25,110,578 (GRCm39)	M129L	probably benign	Het
Cmya5	A	G	13: 93,182,373 (GRCm39)		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,092,479 (GRCm39)		probably benign	Het
Csde1	T	C	3: 102,947,859 (GRCm39)		probably benign	Het
Ctdp1	A	G	18: 80,502,003 (GRCm39)	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,206 (GRCm39)	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,369,494 (GRCm39)	N604K	probably damaging	Het
Fig4	T	A	10: 41,130,881 (GRCm39)	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,299,223 (GRCm39)	S124F	probably damaging	Het
Gli3	G	A	13: 15,900,765 (GRCm39)	R1384K	probably benign	Het
Gm12258	G	A	11: 58,750,457 (GRCm39)	C544Y	probably damaging	Het
Grm1	C	T	10: 10,956,294 (GRCm39)		probably benign	Het
H2-T15	T	A	17: 36,367,236 (GRCm39)	M329L	probably benign	Het
Hps4	C	T	5: 112,517,351 (GRCm39)	T246I	probably benign	Het
Ifngr2	A	T	16: 91,358,653 (GRCm39)	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,441,165 (GRCm39)	T148A	probably benign	Het
Irx3	T	C	8: 92,527,763 (GRCm39)	S36G	probably benign	Het
Itga5	T	A	15: 103,259,514 (GRCm39)	K667N	probably benign	Het
Itgad	G	A	7: 127,773,188 (GRCm39)	C15Y	probably benign	Het
Ly75	T	G	2: 60,213,490 (GRCm39)	E29A	probably benign	Het
Magi1	T	A	6: 93,685,180 (GRCm39)	S506C	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Med23	T	C	10: 24,778,043 (GRCm39)	L797P	probably damaging	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Ncor1	G	T	11: 62,274,016 (GRCm39)	P55Q	probably damaging	Het
Odr4	A	T	1: 150,256,111 (GRCm39)	N211K	probably benign	Het
Ofcc1	T	A	13: 40,334,060 (GRCm39)	I344F	probably benign	Het
Or4a74	C	A	2: 89,439,667 (GRCm39)	V260F	probably damaging	Het
Or4d5	A	T	9: 40,012,189 (GRCm39)	M199K	probably damaging	Het
Or5d35	A	G	2: 87,855,465 (GRCm39)	Y133C	probably damaging	Het
Or5k1	G	A	16: 58,618,095 (GRCm39)	T38I	probably damaging	Het
Otub2	C	T	12: 103,369,687 (GRCm39)		probably benign	Het
Parva	A	G	7: 112,143,960 (GRCm39)	M83V	probably benign	Het
Pcdha8	T	A	18: 37,126,572 (GRCm39)	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,455,732 (GRCm39)	L704*	probably null	Het
Pkd1l3	T	A	8: 110,353,468 (GRCm39)	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,308,331 (GRCm39)	R288H	probably benign	Het
Polr2a	A	T	11: 69,627,086 (GRCm39)	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,693,719 (GRCm39)	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648 (GRCm39)	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,276,007 (GRCm39)	T498S	probably benign	Het
Pus7l	C	T	15: 94,427,332 (GRCm39)		probably null	Het
Rptn	C	T	3: 93,305,639 (GRCm39)	Q991*	probably null	Het
Rsu1	T	G	2: 13,229,170 (GRCm39)	E76A	probably damaging	Het
Septin11	T	A	5: 93,304,824 (GRCm39)	F214I	probably damaging	Het
Slc1a7	G	T	4: 107,869,587 (GRCm39)	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,941 (GRCm39)	Y13*	probably null	Het
Slc7a14	T	G	3: 31,311,719 (GRCm39)	L100F	probably damaging	Het
Slit3	A	G	11: 35,598,932 (GRCm39)	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,767,883 (GRCm39)	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906 (GRCm39)	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 127,179,667 (GRCm39)	F624L	probably benign	Het
Tfeb	T	G	17: 48,070,433 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,891,126 (GRCm39)	G490R	probably damaging	Het
Tra2b	T	C	16: 22,077,953 (GRCm39)	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,760,708 (GRCm39)		probably benign	Het
Uvrag	A	T	7: 98,637,414 (GRCm39)	L138*	probably null	Het
Vwf	A	T	6: 125,655,725 (GRCm39)		probably null	Het
Wdr47	G	A	3: 108,526,322 (GRCm39)	D282N	probably damaging	Het
Xirp2	A	G	2: 67,340,290 (GRCm39)	N844D	possibly damaging	Het
Xirp2	A	G	2: 67,339,042 (GRCm39)	M428V	probably benign	Het
Znfx1	G	A	2: 166,880,920 (GRCm39)	T288I	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
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'- GAGAGCGTCTCATAACTGTCCC -3'
(R):5'- TCTGATCTGTACTCCGGTGC -3'

Sequencing Primer
(F):5'- GAGCGTCTCATAACTGTCCCTCTTC -3'
(R):5'- ACACTGTGTGAGGTCTCTGTGC -3'

Posted On

2017-02-15