Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Abhd8'

290585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

71456705-71463655 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71461477 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 169 (V169A)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000008094
AA Change: V169A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: V169A

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

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Abhd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Abhd8	APN	8	71457319	missense	probably damaging	1.00
IGL01780:Abhd8	APN	8	71461477	missense	probably benign	0.00
IGL02350:Abhd8	APN	8	71461477	missense	probably benign	0.00
PIT4142001:Abhd8	UTSW	8	71461855	missense	probably damaging	1.00
R0135:Abhd8	UTSW	8	71458074	missense	probably benign	0.20
R0142:Abhd8	UTSW	8	71461862	missense	probably damaging	0.96
R1006:Abhd8	UTSW	8	71458441	missense	probably benign	0.19
R1411:Abhd8	UTSW	8	71461730	missense	probably damaging	1.00
R1676:Abhd8	UTSW	8	71461873	missense	probably damaging	1.00
R1937:Abhd8	UTSW	8	71461862	missense	possibly damaging	0.93
R1985:Abhd8	UTSW	8	71463513	unclassified	probably benign
R3724:Abhd8	UTSW	8	71461492	missense	probably benign	0.14
R5254:Abhd8	UTSW	8	71458398	nonsense	probably null
R5770:Abhd8	UTSW	8	71457328	missense	probably benign	0.07
R6030:Abhd8	UTSW	8	71458150	missense	possibly damaging	0.94
R6030:Abhd8	UTSW	8	71458150	missense	possibly damaging	0.94
R6474:Abhd8	UTSW	8	71461715	missense	probably damaging	1.00
R6501:Abhd8	UTSW	8	71461521	nonsense	probably null
R6769:Abhd8	UTSW	8	71461461	missense	probably damaging	1.00
R6771:Abhd8	UTSW	8	71461461	missense	probably damaging	1.00
R7406:Abhd8	UTSW	8	71461762	missense	probably benign
R7770:Abhd8	UTSW	8	71458250	missense	probably benign	0.09
R8268:Abhd8	UTSW	8	71457317	missense	probably benign	0.02
Z1088:Abhd8	UTSW	8	71461801	missense	probably benign	0.00

Posted On

2015-04-16