Mutagenetix > Incidental Mutation

Incidental Mutation 'R3724:Abhd8'

270681

Institutional Source

Beutler Lab

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

MMRRC Submission

040715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3724 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

71909349-71916299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71914136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 164 (A164V)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

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

AlphaFold

Q8R0P8

Predicted Effect

probably benign
Transcript: ENSMUST00000008094
AA Change: A164V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: A164V

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

0.0934

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,876,099 (GRCm39)	R133L	probably damaging	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atl1	A	G	12: 70,006,154 (GRCm39)	T487A	probably damaging	Het
C2cd6	C	T	1: 59,105,394 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Ccna1	T	C	3: 54,958,353 (GRCm39)	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039 (GRCm39)	C386R	probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ctdp1	C	T	18: 80,502,482 (GRCm39)	V143I	probably benign	Het
Cyp11a1	A	T	9: 57,926,605 (GRCm39)	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,566 (GRCm39)	L956P	probably benign	Het
Enkd1	A	T	8: 106,430,557 (GRCm39)	V326E	possibly damaging	Het
Epha4	A	G	1: 77,403,180 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,254,662 (GRCm39)	D66G	probably damaging	Het
Evi5l	A	G	8: 4,228,080 (GRCm39)		probably benign	Het
Foxf2	A	G	13: 31,814,513 (GRCm39)	K409R	probably damaging	Het
Frem3	A	G	8: 81,341,900 (GRCm39)	T1398A	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gtdc1	T	C	2: 44,646,319 (GRCm39)	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,565,269 (GRCm39)	Y2286F	possibly damaging	Het
Iars1	A	G	13: 49,840,860 (GRCm39)		probably null	Het
Ifna5	A	G	4: 88,754,171 (GRCm39)	E137G	probably damaging	Het
Itih4	G	A	14: 30,614,541 (GRCm39)	E468K	possibly damaging	Het
Kat6a	A	T	8: 23,352,804 (GRCm39)	H196L	probably damaging	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,140,603 (GRCm39)	V680I	probably damaging	Het
Marchf7	T	C	2: 60,060,089 (GRCm39)	I72T	probably benign	Het
Mbd6	C	T	10: 127,119,760 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mindy3	T	A	2: 12,360,165 (GRCm39)	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,355,073 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,020,802 (GRCm39)	T430S	probably benign	Het
Or4ac1-ps1	T	G	2: 88,370,630 (GRCm39)		noncoding transcript	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Prkce	A	T	17: 86,476,051 (GRCm39)	K11*	probably null	Het
Pros1	T	C	16: 62,720,692 (GRCm39)	I117T	possibly damaging	Het
Prpf38b	T	C	3: 108,811,656 (GRCm39)		probably benign	Het
Sh3rf1	T	C	8: 61,825,756 (GRCm39)	S584P	probably benign	Het
Slit2	T	C	5: 48,414,225 (GRCm39)		probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,534,448 (GRCm39)	E280K	probably damaging	Het
Tenm3	A	G	8: 48,730,781 (GRCm39)	I1329T	probably damaging	Het
Tex2	G	A	11: 106,420,156 (GRCm39)	T869I	unknown	Het
Tlk2	A	G	11: 105,138,390 (GRCm39)	T281A	probably benign	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,260,396 (GRCm39)	F702L	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,362,706 (GRCm39)	T693S	probably benign	Het
Zfand2b	A	G	1: 75,146,499 (GRCm39)	K125E	possibly damaging	Het
Zfp422	C	T	6: 116,603,340 (GRCm39)	A220T	probably benign	Het
Zfp747	A	T	7: 126,973,762 (GRCm39)	V136D	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
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
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'- CTCTGCCAATGCGTAAAAGGTG -3'
(R):5'- ATCACAGTGTACCGCAACG -3'

Sequencing Primer
(F):5'- CCAATGCGTAAAAGGTGTAGGC -3'
(R):5'- TCGTGCCGACCTGCAAG -3'

Posted On

2015-03-18