Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Abhd8'

486202

Institutional Source

Beutler Lab

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

MMRRC Submission

044202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6030 (G1)

Quality Score

146.008

Status

Not validated

Chromosome

Chromosomal Location

71909349-71916299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71910794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 338 (Y338F)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

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

AlphaFold

Q8R0P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008094
AA Change: Y338F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: Y338F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,330,866 (GRCm39)	D50V	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,761,541 (GRCm39)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,012,088 (GRCm39)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Esrrg	A	G	1: 187,930,904 (GRCm39)	M309V	probably benign	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Ypel1	A	G	16: 16,902,377 (GRCm39)		probably null	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	probably null	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
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
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'- TACTCAGAACCCATGCTGGC -3'
(R):5'- CATTACTGATCTGTAGGGGCTG -3'

Sequencing Primer
(F):5'- CTGGCAGGATGGACCACATAC -3'
(R):5'- ATCTGTAGGGGCTGGCTCTG -3'

Posted On

2017-08-16