Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Abhd8'

446495

Institutional Source

Beutler Lab

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

MMRRC Submission

043370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71909349-71916299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71909972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 392 (V392A)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

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

AlphaFold

Q8R0P8

Predicted Effect

probably benign
Transcript: ENSMUST00000008094
AA Change: V392A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: V392A

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

noncoding transcript
Transcript: ENSMUST00000212321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212503

Meta Mutation Damage Score

0.1791

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

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
1700030C10Rik	T	C	12: 20,865,460 (GRCm39)		noncoding transcript	Het
Alpk3	A	G	7: 80,728,310 (GRCm39)	E480G	probably benign	Het
Ankfy1	C	G	11: 72,651,082 (GRCm39)	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,222,578 (GRCm39)	Y271*	probably null	Het
Bcl9	T	C	3: 97,122,491 (GRCm39)	I103V	probably benign	Het
Cgnl1	C	T	9: 71,552,769 (GRCm39)		probably null	Het
Cyp2c23	T	A	19: 44,010,018 (GRCm39)	D109V	probably damaging	Het
Cyp2j13	A	T	4: 95,965,669 (GRCm39)	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,037,500 (GRCm39)		probably benign	Het
Desi2	A	T	1: 178,084,061 (GRCm39)		probably benign	Het
Dll3	T	C	7: 27,998,434 (GRCm39)	E177G	possibly damaging	Het
Ern2	C	T	7: 121,779,130 (GRCm39)	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm6133	A	G	18: 78,393,464 (GRCm39)	K153E	probably benign	Het
Gpr68	A	T	12: 100,845,080 (GRCm39)	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,166,948 (GRCm39)	I130F	probably damaging	Het
Hk1	T	C	10: 62,122,228 (GRCm39)	K489R	probably benign	Het
Ints13	T	C	6: 146,456,571 (GRCm39)	N425S	probably damaging	Het
Itpkc	T	C	7: 26,912,413 (GRCm39)	D578G	probably damaging	Het
Kcns3	A	G	12: 11,142,250 (GRCm39)	S150P	probably benign	Het
Khdrbs3	T	A	15: 68,921,312 (GRCm39)		probably null	Het
Kif11	A	G	19: 37,379,313 (GRCm39)	I335V	probably benign	Het
Lrrn4	C	G	2: 132,714,076 (GRCm39)	C290S	probably damaging	Het
Macrod2	T	C	2: 141,074,102 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,646,738 (GRCm39)	N688S	probably benign	Het
Myh8	G	A	11: 67,188,026 (GRCm39)	E933K	probably damaging	Het
Nat8f5	T	C	6: 85,794,657 (GRCm39)	Y101C	probably damaging	Het
Nhlrc1	A	G	13: 47,168,188 (GRCm39)	V23A	probably benign	Het
Nkx2-3	T	A	19: 43,602,972 (GRCm39)	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,449,414 (GRCm39)	V172E	probably benign	Het
Nmrk1	G	T	19: 18,622,438 (GRCm39)	R172S	probably benign	Het
Nudcd3	T	C	11: 6,063,286 (GRCm39)	D201G	probably damaging	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or10g9b	C	T	9: 39,917,634 (GRCm39)	V204I	probably benign	Het
Or13a18	A	G	7: 140,190,856 (GRCm39)	Y259C	probably damaging	Het
Or2t44	G	A	11: 58,677,420 (GRCm39)	R120H	probably benign	Het
Or2y14	A	G	11: 49,405,419 (GRCm39)	E318G	unknown	Het
Or4c12b	T	A	2: 89,646,893 (GRCm39)	D68E	probably damaging	Het
Or56a3	A	T	7: 104,740,102 (GRCm39)	I248N	probably damaging	Het
Or5ac23	A	T	16: 59,149,514 (GRCm39)	Y119*	probably null	Het
Pcdh15	T	A	10: 74,021,177 (GRCm39)	Y130*	probably null	Het
Pcdh9	G	A	14: 94,124,379 (GRCm39)	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,631,090 (GRCm39)	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,731,607 (GRCm39)		probably benign	Het
Pdzph1	A	T	17: 59,186,146 (GRCm39)	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,182,199 (GRCm39)	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,781,757 (GRCm39)	G763W	probably damaging	Het
Prox2	A	G	12: 85,134,154 (GRCm39)	F591L	probably benign	Het
Robo3	T	A	9: 37,330,497 (GRCm39)	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,471,239 (GRCm39)	C222*	probably null	Het
Sec16a	T	C	2: 26,304,402 (GRCm39)	D2303G	probably damaging	Het
Shoc1	T	C	4: 59,092,466 (GRCm39)	I238M	probably benign	Het
Slc16a5	A	G	11: 115,363,604 (GRCm39)	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,363,891 (GRCm39)	M232K	probably damaging	Het
Slc35b3	A	T	13: 39,121,734 (GRCm39)	F300I	probably damaging	Het
Spata2l	A	G	8: 123,962,459 (GRCm39)	V34A	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tecta	T	A	9: 42,256,885 (GRCm39)	Q1597L	possibly damaging	Het
Tgfb1i1	A	T	7: 127,847,719 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,807 (GRCm39)	T234A	probably benign	Het
Usp20	A	G	2: 30,907,520 (GRCm39)	Y684C	probably damaging	Het
Zc3h4	T	A	7: 16,163,536 (GRCm39)	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747 (GRCm39)	I2099T	probably damaging	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
R0142:Abhd8	UTSW	8	71,914,506 (GRCm39)	missense	probably damaging	0.96
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
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'- GAGCCTCTACTACTCAAGATCCAG -3'
(R):5'- CGAGGTTGAGAAGTCCAACC -3'

Sequencing Primer
(F):5'- TCTACTACTCAAGATCCAGGAGTC -3'
(R):5'- CCGGGCATATTATAAGGCGCTTAATG -3'

Posted On

2016-11-21