Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00338:Abhd11'

5527

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 #

IGL00338

Quality Score

Status

Chromosome

Chromosomal Location

135038006-135041029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135040839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 217 (D217G)

Ref Sequence

ENSEMBL: ENSMUSP00000144449 (fasta)

Gene Model

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

AlphaFold

Q8K4F5

Predicted Effect

probably benign
Transcript: ENSMUST00000046999
AA Change: D297G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043041
Gene: ENSMUSG00000040532
AA Change: D297G

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 benign
Transcript: ENSMUST00000111216
AA Change: D217G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106847
Gene: ENSMUSG00000040532
AA Change: D217G

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

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

noncoding transcript
Transcript: ENSMUST00000154060

Predicted Effect

probably benign
Transcript: ENSMUST00000154469
AA Change: D217G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144449
Gene: ENSMUSG00000040532
AA Change: D217G

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: 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
Ankar	T	A	1: 72,729,290 (GRCm39)	Y285F	probably damaging	Het
Ano8	C	A	8: 71,936,902 (GRCm39)		probably benign	Het
Bche	A	G	3: 73,608,640 (GRCm39)	V262A	probably benign	Het
Car13	T	C	3: 14,721,964 (GRCm39)		probably benign	Het
Cd244a	T	A	1: 171,401,938 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,671,395 (GRCm39)	D137G	probably damaging	Het
Cobl	T	C	11: 12,325,813 (GRCm39)	R119G	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gp2	A	G	7: 119,053,613 (GRCm39)	M116T	probably damaging	Het
Gp5	C	A	16: 30,127,640 (GRCm39)	A345S	probably benign	Het
Gphn	A	T	12: 78,551,406 (GRCm39)	I285F	probably damaging	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Hecw2	T	C	1: 53,867,040 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,296,434 (GRCm39)	N3654K	possibly damaging	Het
Inpp5b	A	G	4: 124,678,168 (GRCm39)	Y440C	possibly damaging	Het
Or4a47	A	T	2: 89,665,802 (GRCm39)	Y162*	probably null	Het
Pphln1	A	G	15: 93,363,091 (GRCm39)	K306E	probably damaging	Het
Rnf26	A	C	9: 44,024,156 (GRCm39)	S31A	probably benign	Het
Ros1	A	T	10: 52,001,907 (GRCm39)	S1072T	probably benign	Het
Skic2	A	G	17: 35,065,643 (GRCm39)	W304R	probably damaging	Het
Slc22a14	A	G	9: 119,007,579 (GRCm39)	F277L	possibly damaging	Het
Slc22a26	A	T	19: 7,760,340 (GRCm39)	L468I	probably benign	Het
Tchh	C	T	3: 93,354,951 (GRCm39)	L1464F	unknown	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	A	G	2: 76,804,409 (GRCm39)	S288P	probably damaging	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vps50	C	T	6: 3,602,670 (GRCm39)	T929M	probably benign	Het
Zdhhc8	A	G	16: 18,043,060 (GRCm39)	L380P	possibly damaging	Het

Other mutations in Abhd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Abhd11	APN	5	135,040,329 (GRCm39)	splice site	probably null
IGL01944:Abhd11	APN	5	135,040,230 (GRCm39)	missense	probably damaging	0.99
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

2012-04-20