Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Abhd8'

26564

Institutional Source

Beutler Lab

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0142 (G1)

Quality Score

114

Status

Validated (trace)

Chromosome

Chromosomal Location

71909349-71916299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71914506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 41 (F41V)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008094] [ENSMUST00000048914]

AlphaFold

Q8R0P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000008094
AA Change: F41V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: F41V

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	139	148	N/A	INTRINSIC
Pfam:Hydrolase_4	164	397	2e-17	PFAM
Pfam:Abhydrolase_1	168	289	1.2e-19	PFAM
Pfam:Abhydrolase_5	168	391	2.4e-20	PFAM
Pfam:Abhydrolase_6	170	403	1.4e-17	PFAM
low complexity region	411	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048914

SMART Domains

Protein: ENSMUSP00000044497
Gene: ENSMUSG00000034880

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L34	49	92	1.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212503

Meta Mutation Damage Score

0.3467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	Het

Other mutations in Abhd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Abhd8	APN	8	71,909,963 (GRCm39)	missense	probably damaging	1.00
IGL01780:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
IGL02350:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
IGL02357:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
PIT4142001:Abhd8	UTSW	8	71,914,499 (GRCm39)	missense	probably damaging	1.00
R0135:Abhd8	UTSW	8	71,910,718 (GRCm39)	missense	probably benign	0.20
R1006:Abhd8	UTSW	8	71,911,085 (GRCm39)	missense	probably benign	0.19
R1411:Abhd8	UTSW	8	71,914,374 (GRCm39)	missense	probably damaging	1.00
R1676:Abhd8	UTSW	8	71,914,517 (GRCm39)	missense	probably damaging	1.00
R1937:Abhd8	UTSW	8	71,914,506 (GRCm39)	missense	possibly damaging	0.93
R1985:Abhd8	UTSW	8	71,916,157 (GRCm39)	unclassified	probably benign
R3724:Abhd8	UTSW	8	71,914,136 (GRCm39)	missense	probably benign	0.14
R5254:Abhd8	UTSW	8	71,911,042 (GRCm39)	nonsense	probably null
R5770:Abhd8	UTSW	8	71,909,972 (GRCm39)	missense	probably benign	0.07
R6030:Abhd8	UTSW	8	71,910,794 (GRCm39)	missense	possibly damaging	0.94
R6030:Abhd8	UTSW	8	71,910,794 (GRCm39)	missense	possibly damaging	0.94
R6474:Abhd8	UTSW	8	71,914,359 (GRCm39)	missense	probably damaging	1.00
R6501:Abhd8	UTSW	8	71,914,165 (GRCm39)	nonsense	probably null
R6769:Abhd8	UTSW	8	71,914,105 (GRCm39)	missense	probably damaging	1.00
R6771:Abhd8	UTSW	8	71,914,105 (GRCm39)	missense	probably damaging	1.00
R7406:Abhd8	UTSW	8	71,914,406 (GRCm39)	missense	probably benign
R7770:Abhd8	UTSW	8	71,910,894 (GRCm39)	missense	probably benign	0.09
R8268:Abhd8	UTSW	8	71,909,961 (GRCm39)	missense	probably benign	0.02
R9128:Abhd8	UTSW	8	71,914,389 (GRCm39)	missense	probably benign	0.00
R9305:Abhd8	UTSW	8	71,911,148 (GRCm39)	missense	possibly damaging	0.82
R9366:Abhd8	UTSW	8	71,914,328 (GRCm39)	missense	probably benign	0.18
Z1088:Abhd8	UTSW	8	71,914,445 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCGACTCCGTGAATGAAGAACAG -3'
(R):5'- TGCTTACCCGATGCAAGACCAGAG -3'

Sequencing Primer
(F):5'- ATGCGCTGCTCACAGTC -3'
(R):5'- TGCAAGACCAGAGCCACC -3'

Posted On

2013-04-17