Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Abhd17b'

652168

Institutional Source

Beutler Lab

Gene Symbol

Abhd17b

Ensembl Gene

ENSMUSG00000047368

Gene Name

abhydrolase domain containing 17B

Synonyms

Fam108b, 5730446C15Rik

MMRRC Submission

067734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21630549-21663001 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 21655888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 57 (Q57*)

Ref Sequence

ENSEMBL: ENSMUSP00000056099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052556]

AlphaFold

Q7M759

Predicted Effect

probably null
Transcript: ENSMUST00000052556
AA Change: Q57*

SMART Domains

Protein: ENSMUSP00000056099
Gene: ENSMUSG00000047368
AA Change: Q57*

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:Hydrolase_4	88	209	8.3e-9	PFAM
Pfam:Abhydrolase_5	93	265	6.3e-31	PFAM
Pfam:DLH	128	265	8.4e-7	PFAM
Pfam:Peptidase_S9	132	286	9.8e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	T	9: 26,890,352 (GRCm39)	A288T	possibly damaging	Het
Adamtsl3	G	A	7: 82,197,187 (GRCm39)	C711Y	probably damaging	Het
Ahcyl2	C	A	6: 29,768,869 (GRCm39)	D111E	probably benign	Het
Asxl3	T	C	18: 22,649,174 (GRCm39)	F388L	probably benign	Het
Bcr	T	A	10: 74,981,271 (GRCm39)	S697T	probably damaging	Het
Catspere2	G	A	1: 177,842,724 (GRCm39)	V50M	possibly damaging	Het
Dgka	C	A	10: 128,563,997 (GRCm39)	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,962,705 (GRCm39)	C617S	unknown	Het
Erich3	C	A	3: 154,469,991 (GRCm39)	T1481K	unknown	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,874,059 (GRCm39)	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,204,724 (GRCm39)	D294V	possibly damaging	Het
Hnf1a	A	G	5: 115,091,391 (GRCm39)	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,169,138 (GRCm39)	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,449,767 (GRCm39)	K672E	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Kif26b	T	C	1: 178,743,938 (GRCm39)	S1345P	probably benign	Het
Lrrc28	A	T	7: 67,290,909 (GRCm39)	D37E	probably benign	Het
Mlx	G	T	11: 100,978,140 (GRCm39)		probably benign	Het
Muc16	T	C	9: 18,436,554 (GRCm39)	H7878R	probably benign	Het
Mybpc1	C	A	10: 88,409,359 (GRCm39)	E32*	probably null	Het
Nebl	C	T	2: 17,465,298 (GRCm39)	V18M	probably benign	Het
Nhsl3	C	T	4: 129,117,995 (GRCm39)	R268Q	possibly damaging	Het
Nlrp3	T	C	11: 59,440,229 (GRCm39)	V602A	probably benign	Het
Npepps	G	A	11: 97,120,665 (GRCm39)	P532S	probably benign	Het
Or7g12	T	A	9: 18,900,139 (GRCm39)	M285K	probably benign	Het
Or8g19	C	T	9: 39,055,761 (GRCm39)	R122*	probably null	Het
Or8k53	T	C	2: 86,177,668 (GRCm39)	I147M	possibly damaging	Het
Pfdn1	G	A	18: 36,584,214 (GRCm39)	T40M	probably benign	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Prss40	T	A	1: 34,599,876 (GRCm39)	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,642,374 (GRCm39)	C808*	probably null	Het
Rab3gap2	A	T	1: 184,999,270 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,017,232 (GRCm39)	R232H	probably benign	Het
Sbk3	A	G	7: 4,970,707 (GRCm39)	F221L	probably damaging	Het
Sema7a	T	G	9: 57,862,974 (GRCm39)		probably benign	Het
Serpina3b	C	A	12: 104,104,962 (GRCm39)	N379K	probably benign	Het
Ssbp4	A	G	8: 71,052,039 (GRCm39)	L208P	probably benign	Het
Stxbp5	C	T	10: 9,688,003 (GRCm39)		probably null	Het
Tecrl	A	G	5: 83,448,764 (GRCm39)	Y160H	probably damaging	Het
Tnc	T	C	4: 63,885,511 (GRCm39)	I1773V	probably benign	Het
Ush2a	A	G	1: 188,198,468 (GRCm39)	T1511A	probably benign	Het
Utp15	T	C	13: 98,391,499 (GRCm39)	N246S	probably damaging	Het
Vmn1r49	C	T	6: 90,049,991 (GRCm39)	A4T	probably benign	Het
Vmn2r57	A	T	7: 41,049,640 (GRCm39)	I703N	probably damaging	Het
Wdr93	A	G	7: 79,398,974 (GRCm39)	D36G	probably damaging	Het
Zfp334	A	G	2: 165,225,278 (GRCm39)	I8T	probably benign	Het

Other mutations in Abhd17b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02010:Abhd17b	APN	19	21,661,485 (GRCm39)	missense	probably benign	0.07
IGL02264:Abhd17b	APN	19	21,655,796 (GRCm39)	missense	probably damaging	1.00
IGL02386:Abhd17b	APN	19	21,658,263 (GRCm39)	missense	possibly damaging	0.88
R0714:Abhd17b	UTSW	19	21,655,973 (GRCm39)	missense	probably damaging	0.99
R2129:Abhd17b	UTSW	19	21,658,413 (GRCm39)	critical splice donor site	probably null
R4551:Abhd17b	UTSW	19	21,658,290 (GRCm39)	missense	possibly damaging	0.79
R5140:Abhd17b	UTSW	19	21,661,545 (GRCm39)	missense	probably damaging	0.99
R5245:Abhd17b	UTSW	19	21,661,624 (GRCm39)	nonsense	probably null
R8196:Abhd17b	UTSW	19	21,656,024 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCAATGTCCACATTAAGC -3'
(R):5'- CCATATCCGGAGTAGTCATAGGAG -3'

Sequencing Primer
(F):5'- CTTGCCCAGGGAAAATTG -3'
(R):5'- TCCGGAGTAGTCATAGGAGAATATG -3'

Posted On

2020-10-20