Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01944:Abhd11'

181200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd11

Ensembl Gene

ENSMUSG00000040532

Gene Name

abhydrolase domain containing 11

Synonyms

Wbscr21, A630008N09Rik, 1110054D16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01944

Quality Score

Status

Chromosome

Chromosomal Location

135038006-135041029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135040230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 202 (V202D)

Ref Sequence

ENSEMBL: ENSMUSP00000043041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046999] [ENSMUST00000111216] [ENSMUST00000123227] [ENSMUST00000148831] [ENSMUST00000149778] [ENSMUST00000154469] [ENSMUST00000201890]

AlphaFold

Q8K4F5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046999
AA Change: V202D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043041
Gene: ENSMUSG00000040532
AA Change: V202D

Domain	Start	End	E-Value	Type
Pfam:Esterase	43	206	1.8e-7	PFAM
Pfam:Hydrolase_4	56	295	1.4e-17	PFAM
Pfam:Thioesterase	59	166	1.2e-8	PFAM
Pfam:Abhydrolase_1	59	187	3.8e-18	PFAM
Pfam:Abhydrolase_5	60	289	2.4e-23	PFAM
Pfam:Abhydrolase_6	61	301	1.2e-24	PFAM
Pfam:PGAP1	125	223	2.8e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111216
AA Change: V122D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106847
Gene: ENSMUSG00000040532
AA Change: V122D

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	1	209	3.5e-17	PFAM
Pfam:Abhydrolase_6	2	221	4.1e-33	PFAM
Pfam:Abhydrolase_1	7	154	1.1e-11	PFAM
Pfam:PGAP1	22	139	3.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122083

Predicted Effect

probably benign
Transcript: ENSMUST00000123227

SMART Domains

Protein: ENSMUSP00000143994
Gene: ENSMUSG00000040532

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Lipase_3	51	150	1.6e-4	PFAM
Pfam:Hydrolase_4	55	152	3.3e-10	PFAM
Pfam:Abhydrolase_1	59	149	7.5e-14	PFAM
Pfam:Thioesterase	59	150	1.6e-6	PFAM
Pfam:Abhydrolase_5	60	153	4.8e-15	PFAM
Pfam:Abhydrolase_6	61	158	6.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136022

Predicted Effect

probably benign
Transcript: ENSMUST00000148831

SMART Domains

Protein: ENSMUSP00000144595
Gene: ENSMUSG00000040532

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	1	67	5.2e-9	PFAM
Pfam:Abhydrolase_6	1	67	2.7e-10	PFAM
Pfam:Abhydrolase_1	2	67	1.5e-9	PFAM
Pfam:Hydrolase_4	2	67	6.9e-7	PFAM
Pfam:Lipase_3	7	66	6.5e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149778

SMART Domains

Protein: ENSMUSP00000144553
Gene: ENSMUSG00000040532

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	1	74	5.1e-9	PFAM
Pfam:Abhydrolase_6	1	78	3.5e-11	PFAM
Pfam:Abhydrolase_1	2	69	1.7e-9	PFAM
Pfam:Hydrolase_4	2	72	8.3e-7	PFAM
Pfam:Lipase_3	8	71	5.8e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154469
AA Change: V122D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144449
Gene: ENSMUSG00000040532
AA Change: V122D

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	1	209	4.1e-17	PFAM
Pfam:Abhydrolase_6	1	221	1.1e-21	PFAM
Pfam:Abhydrolase_1	2	99	2.7e-13	PFAM
Pfam:Hydrolase_4	2	215	4.2e-14	PFAM
Pfam:PGAP1	45	158	6.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222613

Predicted Effect

probably benign
Transcript: ENSMUST00000201890

SMART Domains

Protein: ENSMUSP00000144329
Gene: ENSMUSG00000040532

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,030,743 (GRCm39)	N218S	probably damaging	Het
Arhgef1	G	A	7: 24,625,208 (GRCm39)		probably null	Het
Atp1a2	G	T	1: 172,103,754 (GRCm39)	T959K	probably damaging	Het
Atp6v0a2	A	G	5: 124,774,043 (GRCm39)	E96G	probably benign	Het
B9d1	A	T	11: 61,403,205 (GRCm39)	M52L	probably benign	Het
Col6a6	T	A	9: 105,661,108 (GRCm39)	I334F	probably damaging	Het
Drd3	T	C	16: 43,638,671 (GRCm39)	F259L	probably benign	Het
Drosha	T	G	15: 12,889,805 (GRCm39)	L891R	probably damaging	Het
Ecpas	G	T	4: 58,861,544 (GRCm39)	T345K	probably benign	Het
Garin5b	T	C	7: 4,773,694 (GRCm39)	N67S	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Greb1l	T	C	18: 10,557,280 (GRCm39)	V1760A	possibly damaging	Het
Il36b	T	A	2: 24,045,291 (GRCm39)	W48R	probably damaging	Het
Ipo9	C	A	1: 135,333,624 (GRCm39)	V353F	probably damaging	Het
Kmt2a	A	T	9: 44,761,064 (GRCm39)	F126I	probably damaging	Het
Mmrn1	T	C	6: 60,948,167 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,924,971 (GRCm39)	C328*	probably null	Het
Or9g19	A	G	2: 85,600,384 (GRCm39)	I80V	probably damaging	Het
Pcdh17	G	T	14: 84,684,960 (GRCm39)	V476L	probably benign	Het
Pcdh17	T	A	14: 84,684,961 (GRCm39)	V476E	probably damaging	Het
Prpf38b	A	T	3: 108,811,991 (GRCm39)	S291R	probably benign	Het
Rap1gap	T	C	4: 137,452,931 (GRCm39)	S601P	probably damaging	Het
Rnf213	T	C	11: 119,307,283 (GRCm39)	Y648H	probably benign	Het
Slfn3	A	G	11: 83,103,974 (GRCm39)	T282A	possibly damaging	Het
Ttll3	C	T	6: 113,391,076 (GRCm39)	T887I	probably benign	Het
Vmn1r197	A	G	13: 22,512,508 (GRCm39)	N143S	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo4	T	C	14: 57,841,855 (GRCm39)	I487V	probably benign	Het

Other mutations in Abhd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Abhd11	APN	5	135,040,839 (GRCm39)	missense	probably benign	0.21
IGL01120:Abhd11	APN	5	135,040,329 (GRCm39)	splice site	probably null
R1869:Abhd11	UTSW	5	135,040,471 (GRCm39)	missense	probably damaging	1.00
R5217:Abhd11	UTSW	5	135,040,398 (GRCm39)	missense	probably damaging	1.00
R7832:Abhd11	UTSW	5	135,038,654 (GRCm39)	missense	probably benign	0.03
R8747:Abhd11	UTSW	5	135,040,760 (GRCm39)	missense	possibly damaging	0.89

Posted On

2014-05-07