Mutagenetix > Incidental Mutation

Incidental Mutation 'R7972:Abhd16a'

650684

Institutional Source

Beutler Lab

Gene Symbol

Abhd16a

Ensembl Gene

ENSMUSG00000007036

Gene Name

abhydrolase domain containing 16A

Synonyms

NG26, D17H6S82E, Bat5

MMRRC Submission

046015-MU

Accession Numbers

Essential gene?

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

Stock #

R7972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35308239-35321963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35320287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 384 (V384E)

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: V384E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: V384E

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

0.6162

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (48/49)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,364,918 (GRCm39)	R1533*	probably null	Het
Alox12	T	A	11: 70,133,513 (GRCm39)	M604L	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Brdt	A	T	5: 107,496,415 (GRCm39)	I176F	possibly damaging	Het
Cdk5	G	T	5: 24,624,656 (GRCm39)	T245K	probably benign	Het
Chd9	A	T	8: 91,732,395 (GRCm39)	R1304S	unknown	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cyp2j11	T	A	4: 96,185,871 (GRCm39)	E438V	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,803,949 (GRCm39)	V92A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam184a	A	T	10: 53,514,355 (GRCm39)	L1022Q	probably damaging	Het
Foxd4	T	C	19: 24,877,594 (GRCm39)	H202R	probably damaging	Het
Fry	T	C	5: 150,233,861 (GRCm39)	V16A	probably benign	Het
Gstcd	A	T	3: 132,777,894 (GRCm39)	F306I	probably benign	Het
H2bc13	A	G	13: 21,899,977 (GRCm39)	S113P	possibly damaging	Het
Hivep3	T	C	4: 119,954,711 (GRCm39)	V1009A	possibly damaging	Het
Hoxd12	G	T	2: 74,506,269 (GRCm39)	R227L	probably damaging	Het
Ifi208	T	A	1: 173,506,556 (GRCm39)	M113K	possibly damaging	Het
Ift70a1	A	T	2: 75,810,802 (GRCm39)	M427K	probably damaging	Het
Kcnh4	T	G	11: 100,643,278 (GRCm39)	T330P	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lin28a	G	A	4: 133,733,574 (GRCm39)	P158S	probably damaging	Het
Muc16	C	A	9: 18,557,060 (GRCm39)	E3078*	probably null	Het
Naaladl1	A	G	19: 6,156,274 (GRCm39)	N120S	probably damaging	Het
Nol10	G	A	12: 17,402,648 (GRCm39)	R40H	probably benign	Het
Ntng1	G	A	3: 110,042,802 (GRCm39)	S8L	probably benign	Het
Or4a71	T	G	2: 89,357,948 (GRCm39)	I269L	probably benign	Het
Or4c107	T	A	2: 88,789,177 (GRCm39)	Y122*	probably null	Het
Pacsin1	T	A	17: 27,927,613 (GRCm39)	F319I	unknown	Het
Pla2g4d	G	A	2: 120,109,413 (GRCm39)	T212I	probably benign	Het
Ppp4r1	T	A	17: 66,140,093 (GRCm39)	C664S	possibly damaging	Het
Prodh2	T	C	7: 30,210,580 (GRCm39)	I377T	probably damaging	Het
Prss57	A	T	10: 79,619,230 (GRCm39)	L243H	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Ros1	G	A	10: 52,030,926 (GRCm39)	R581*	probably null	Het
Rps6kc1	C	T	1: 190,531,321 (GRCm39)	G894S	probably benign	Het
Sirt7	A	G	11: 120,510,016 (GRCm39)	S183P	unknown	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Styxl2	T	A	1: 165,926,708 (GRCm39)	E968V	probably damaging	Het
Tbc1d8	A	G	1: 39,431,250 (GRCm39)	F374S	probably damaging	Het
Tdrd1	T	A	19: 56,837,134 (GRCm39)	D489E	probably damaging	Het
Tiprl	T	A	1: 165,064,543 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,085,539 (GRCm39)	*173Q	probably null	Het
Trim17	A	G	11: 58,859,394 (GRCm39)	I203V	probably benign	Het
Trim43b	T	A	9: 88,973,361 (GRCm39)	H124L	probably damaging	Het
Triobp	T	C	15: 78,852,186 (GRCm39)	I780T	probably damaging	Het
Tyrobp	G	A	7: 30,114,063 (GRCm39)	G101R		Het
Vmn1r181	A	T	7: 23,683,871 (GRCm39)	H112L	probably benign	Het
Wdr19	A	G	5: 65,381,193 (GRCm39)	N406D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,728 (GRCm39)	K379E	probably benign	Het
Zcwpw1	T	C	5: 137,799,323 (GRCm39)	I230T	probably benign	Het
Zfhx4	A	G	3: 5,477,533 (GRCm39)	T3383A	probably benign	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
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'- AGGCTTCACTGGTATCTGCCTC -3'
(R):5'- TAAAGGTCCCACTGTCCACTG -3'

Sequencing Primer
(F):5'- TCCCTGCGCAGTAGAGATG -3'
(R):5'- TGTCCACTGGGCAGGGAAG -3'

Posted On

2020-09-15