Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02386:Abhd17b'

291560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd17b

Ensembl Gene

ENSMUSG00000047368

Gene Name

abhydrolase domain containing 17B

Synonyms

Fam108b, 5730446C15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02386

Quality Score

Status

Chromosome

Chromosomal Location

21630549-21663001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21658263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 167 (Y167H)

Ref Sequence

ENSEMBL: ENSMUSP00000056099 (fasta)

Gene Model

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

AlphaFold

Q7M759

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052556
AA Change: Y167H

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056099
Gene: ENSMUSG00000047368
AA Change: Y167H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,953,472 (GRCm39)		noncoding transcript	Het
Ablim1	T	C	19: 57,123,086 (GRCm39)	D167G	probably damaging	Het
Bpnt1	G	T	1: 185,070,372 (GRCm39)	K21N	probably damaging	Het
Cables2	A	G	2: 179,903,431 (GRCm39)	V251A	probably benign	Het
Cyp2b13	T	C	7: 25,785,438 (GRCm39)	L269P	probably damaging	Het
Dhodh	A	G	8: 110,321,396 (GRCm39)	I330T	probably damaging	Het
Dnah5	T	A	15: 28,340,527 (GRCm39)	D2311E	probably damaging	Het
Dph1	T	C	11: 75,074,428 (GRCm39)	D128G	probably benign	Het
Dsg1c	T	A	18: 20,410,056 (GRCm39)	I508N	probably benign	Het
Eftud2	T	C	11: 102,742,580 (GRCm39)		probably null	Het
Fstl4	T	A	11: 52,664,698 (GRCm39)	H9Q	probably benign	Het
Glra3	A	T	8: 56,542,063 (GRCm39)	M269L	probably benign	Het
Gpatch8	C	A	11: 102,398,983 (GRCm39)	R83L	unknown	Het
Gss	A	G	2: 155,415,090 (GRCm39)	V205A	probably benign	Het
Ifi30	A	G	8: 71,217,405 (GRCm39)		probably benign	Het
Itch	T	A	2: 155,044,181 (GRCm39)	Y495*	probably null	Het
Lilrb4a	C	T	10: 51,367,322 (GRCm39)	Q22*	probably null	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Myh8	T	A	11: 67,185,266 (GRCm39)	I839N	probably damaging	Het
Myo7a	C	T	7: 97,724,319 (GRCm39)	G1122E	probably damaging	Het
Ntan1	T	A	16: 13,653,063 (GRCm39)	M273K	probably benign	Het
Numa1	A	G	7: 101,656,739 (GRCm39)	K1548R	probably benign	Het
Obsl1	A	G	1: 75,469,161 (GRCm39)	V1260A	probably damaging	Het
Or4b12	T	A	2: 90,096,295 (GRCm39)	I160F	probably damaging	Het
Or4c10	T	C	2: 89,760,888 (GRCm39)	V245A	probably damaging	Het
Pde10a	A	G	17: 9,172,636 (GRCm39)	S669G	possibly damaging	Het
Ppargc1b	T	C	18: 61,456,222 (GRCm39)	D79G	probably damaging	Het
Rnf103	A	G	6: 71,486,202 (GRCm39)	T278A	probably benign	Het
Slc22a4	C	A	11: 53,879,598 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,494,386 (GRCm39)	M833K	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Susd2	A	T	10: 75,475,929 (GRCm39)	Y357N	probably damaging	Het
Syne4	C	A	7: 30,015,659 (GRCm39)	S91Y	possibly damaging	Het
Tgfbrap1	C	A	1: 43,114,981 (GRCm39)	G40C	probably damaging	Het
Tial1	A	G	7: 128,050,069 (GRCm39)	S94P	probably damaging	Het
Tle3	A	G	9: 61,301,941 (GRCm39)	T117A	possibly damaging	Het
Usp48	A	C	4: 137,331,834 (GRCm39)	R73S	possibly damaging	Het
Utrn	G	T	10: 12,297,352 (GRCm39)	D685E	possibly damaging	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
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
R8360:Abhd17b	UTSW	19	21,655,888 (GRCm39)	nonsense	probably null

Posted On

2015-04-16