Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02237:Abhd16b'

285933

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd16b

Ensembl Gene

ENSMUSG00000055882

Gene Name

abhydrolase domain containing 16B

Synonyms

BC050777

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02237

Quality Score

Status

Chromosome

Chromosomal Location

181134999-181136773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181135350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 84 (V84E)

Ref Sequence

ENSEMBL: ENSMUSP00000066520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069649] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184849] [ENSMUST00000184588]

AlphaFold

Q80YU0

Predicted Effect

probably benign
Transcript: ENSMUST00000000844

SMART Domains

Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	199	6.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069649
AA Change: V84E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: V84E

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_1	174	339	2.9e-11	PFAM
Pfam:Abhydrolase_5	174	341	2.1e-13	PFAM
Pfam:Hydrolase_4	180	308	5.1e-9	PFAM
low complexity region	345	357	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069712

SMART Domains

Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	193	5.8e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108799

SMART Domains

Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	18	121	1.9e-38	PFAM
Pfam:TPD52	115	220	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108800

SMART Domains

Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	179	2.9e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129390

Predicted Effect

probably benign
Transcript: ENSMUST00000149163

SMART Domains

Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	213	5.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183956

Predicted Effect

probably benign
Transcript: ENSMUST00000184849

SMART Domains

Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	9	170	2.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184588

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	T	8: 41,278,482 (GRCm39)	E291V	probably benign	Het
Ak5	T	A	3: 152,204,980 (GRCm39)	D372V	probably benign	Het
Brpf1	C	T	6: 113,287,336 (GRCm39)	P188L	probably damaging	Het
Cacna2d3	C	T	14: 29,068,954 (GRCm39)	V258I	probably benign	Het
Cd14	A	G	18: 36,858,912 (GRCm39)	F181S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cts6	A	T	13: 61,345,313 (GRCm39)	D261E	probably benign	Het
Daam1	A	G	12: 72,029,495 (GRCm39)	T897A	probably benign	Het
Ddx25	T	A	9: 35,453,365 (GRCm39)		probably benign	Het
Ddx55	A	G	5: 124,705,958 (GRCm39)	E461G	probably damaging	Het
Degs1	T	C	1: 182,107,253 (GRCm39)	K2R	probably damaging	Het
Drc7	C	T	8: 95,799,507 (GRCm39)	L561F	probably damaging	Het
Eif4enif1	A	T	11: 3,177,876 (GRCm39)	K423*	probably null	Het
Epha7	A	G	4: 28,949,325 (GRCm39)		probably null	Het
Erich5	A	C	15: 34,471,482 (GRCm39)	E237A	probably benign	Het
Ficd	A	G	5: 113,876,373 (GRCm39)	T183A	probably damaging	Het
Foxb2	T	C	19: 16,850,908 (GRCm39)	M33V	unknown	Het
Gja8	T	G	3: 96,827,249 (GRCm39)	S138R	probably benign	Het
Gm28042	T	G	2: 119,870,380 (GRCm39)	L743V	possibly damaging	Het
Gtf3c2	A	T	5: 31,316,397 (GRCm39)		probably benign	Het
Itga11	T	C	9: 62,663,057 (GRCm39)		probably null	Het
Kazn	A	T	4: 141,874,410 (GRCm39)	D315E	probably benign	Het
Kbtbd2	A	T	6: 56,756,033 (GRCm39)	S568T	possibly damaging	Het
Man1c1	A	C	4: 134,311,609 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,670,854 (GRCm39)	S463P	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Oog2	T	A	4: 143,923,016 (GRCm39)	F427Y	possibly damaging	Het
Pcmtd1	T	C	1: 7,233,601 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,188,818 (GRCm39)	D2861Y	probably damaging	Het
Pdzd7	C	T	19: 45,028,697 (GRCm39)	A149T	probably damaging	Het
Pebp4	A	T	14: 70,297,105 (GRCm39)	T215S	possibly damaging	Het
Pgm1	T	C	4: 99,820,707 (GRCm39)		probably benign	Het
Plekhh2	T	A	17: 84,883,213 (GRCm39)	D760E	probably benign	Het
Pomt1	T	C	2: 32,135,689 (GRCm39)	I351T	probably benign	Het
Ptpn21	C	T	12: 98,671,351 (GRCm39)		probably null	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Rsbn1l	A	T	5: 21,124,604 (GRCm39)	N399K	probably benign	Het
Sec31a	A	G	5: 100,509,914 (GRCm39)	V1191A	probably damaging	Het
Sema6c	C	T	3: 95,077,430 (GRCm39)	P414L	probably damaging	Het
Serpinb5	T	C	1: 106,808,056 (GRCm39)	S69P	probably benign	Het
Slc25a13	C	T	6: 6,042,646 (GRCm39)	R586H	probably damaging	Het
Spink5	T	A	18: 44,145,934 (GRCm39)	M776K	probably benign	Het
Srcap	A	G	7: 127,133,864 (GRCm39)		probably benign	Het
Stt3a	G	A	9: 36,660,933 (GRCm39)	Q293*	probably null	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tomm40l	C	T	1: 171,048,463 (GRCm39)	V97M	possibly damaging	Het
Trpc4	C	T	3: 54,129,783 (GRCm39)	S183F	probably damaging	Het
Ttn	C	T	2: 76,716,478 (GRCm39)		probably benign	Het
Ufl1	A	C	4: 25,269,082 (GRCm39)	S170A	probably benign	Het
Vmn2r66	G	A	7: 84,643,908 (GRCm39)	T834I	probably benign	Het
Vmn2r75	A	G	7: 85,814,786 (GRCm39)	S236P	possibly damaging	Het
Zfp345	A	T	2: 150,316,805 (GRCm39)		probably benign	Het
Zfp955b	T	C	17: 33,520,893 (GRCm39)	S121P	probably damaging	Het

Other mutations in Abhd16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Abhd16b	APN	2	181,136,531 (GRCm39)	unclassified	probably benign
IGL02457:Abhd16b	APN	2	181,136,127 (GRCm39)	missense	probably benign	0.00
PIT4486001:Abhd16b	UTSW	2	181,135,752 (GRCm39)	missense	probably benign	0.39
R1760:Abhd16b	UTSW	2	181,135,197 (GRCm39)	missense	probably damaging	1.00
R2077:Abhd16b	UTSW	2	181,135,209 (GRCm39)	missense	probably benign	0.44
R3124:Abhd16b	UTSW	2	181,136,319 (GRCm39)	missense	possibly damaging	0.70
R4779:Abhd16b	UTSW	2	181,135,253 (GRCm39)	missense	possibly damaging	0.59
R5781:Abhd16b	UTSW	2	181,135,947 (GRCm39)	missense	probably damaging	1.00
R6220:Abhd16b	UTSW	2	181,135,578 (GRCm39)	missense	probably damaging	1.00
R6994:Abhd16b	UTSW	2	181,135,461 (GRCm39)	missense	possibly damaging	0.94
R7305:Abhd16b	UTSW	2	181,135,209 (GRCm39)	missense	possibly damaging	0.85
R7850:Abhd16b	UTSW	2	181,135,518 (GRCm39)	missense	not run
R8115:Abhd16b	UTSW	2	181,135,527 (GRCm39)	missense	possibly damaging	0.55
R8132:Abhd16b	UTSW	2	181,135,760 (GRCm39)	missense	probably damaging	1.00
R8214:Abhd16b	UTSW	2	181,135,983 (GRCm39)	missense	probably damaging	1.00
R8782:Abhd16b	UTSW	2	181,136,208 (GRCm39)	missense	probably benign
R8975:Abhd16b	UTSW	2	181,135,806 (GRCm39)	missense	probably benign	0.00
R9381:Abhd16b	UTSW	2	181,135,881 (GRCm39)	missense	probably damaging	1.00
R9560:Abhd16b	UTSW	2	181,135,103 (GRCm39)	missense	probably damaging	1.00
R9699:Abhd16b	UTSW	2	181,136,518 (GRCm39)	missense	probably benign
X0052:Abhd16b	UTSW	2	181,136,058 (GRCm39)	missense	probably damaging	1.00
X0066:Abhd16b	UTSW	2	181,135,506 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-04-16