Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01120:Abhd11'

51140

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 #

IGL01120

Quality Score

Status

Chromosome

Chromosomal Location

135038006-135041029 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 135040329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000046999

SMART Domains

Protein: ENSMUSP00000043041
Gene: ENSMUSG00000040532

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 null
Transcript: ENSMUST00000111216

SMART Domains

Protein: ENSMUSP00000106847
Gene: ENSMUSG00000040532

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 null
Transcript: ENSMUST00000154469

SMART Domains

Protein: ENSMUSP00000144449
Gene: ENSMUSG00000040532

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: ENSMUST00000154060

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armcx5	T	C	X: 134,647,112 (GRCm39)	I396T	probably damaging	Het
Atm	T	C	9: 53,372,422 (GRCm39)		probably null	Het
Atp6v1c2	C	T	12: 17,358,294 (GRCm39)	E88K	probably damaging	Het
Caskin1	A	G	17: 24,724,343 (GRCm39)	T1044A	possibly damaging	Het
Cyp3a59	T	A	5: 146,039,671 (GRCm39)	S315T	probably damaging	Het
Dnaja1	T	A	4: 40,730,248 (GRCm39)	I240N	probably damaging	Het
Dnttip2	C	T	3: 122,072,386 (GRCm39)		probably benign	Het
Elavl2	A	T	4: 91,152,309 (GRCm39)	M136K	probably damaging	Het
Eml5	C	T	12: 98,810,278 (GRCm39)	V893I	probably benign	Het
Fbxw4	G	T	19: 45,628,955 (GRCm39)	A2E	probably benign	Het
Flg2	T	G	3: 93,108,475 (GRCm39)	S168A	probably damaging	Het
Fndc3a	G	A	14: 72,794,102 (GRCm39)	T857I	probably benign	Het
Gria1	A	G	11: 57,208,495 (GRCm39)	K797E	probably damaging	Het
Herc1	T	C	9: 66,336,162 (GRCm39)	F1569S	probably benign	Het
Kash5	G	T	7: 44,833,622 (GRCm39)	S560Y	probably damaging	Het
Lrrc45	T	C	11: 120,610,836 (GRCm39)	V524A	probably benign	Het
Myo19	T	C	11: 84,798,104 (GRCm39)	L708P	probably damaging	Het
Nup107	A	G	10: 117,606,146 (GRCm39)		probably benign	Het
Or10ab4	T	G	7: 107,654,774 (GRCm39)	M195R	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Palm	A	G	10: 79,652,621 (GRCm39)		probably benign	Het
Phf14	T	C	6: 11,962,739 (GRCm39)	V462A	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,708 (GRCm39)		probably null	Het
Pkp3	T	A	7: 140,664,095 (GRCm39)	L424*	probably null	Het
Prss29	A	G	17: 25,541,107 (GRCm39)	K184E	probably benign	Het
Prss3b	A	T	6: 41,008,607 (GRCm39)	Y236N	probably damaging	Het
Ptcd1	C	T	5: 145,089,053 (GRCm39)		probably benign	Het
Pth1r	T	C	9: 110,556,198 (GRCm39)	H225R	probably damaging	Het
Rffl	C	T	11: 82,696,848 (GRCm39)	V332I	probably damaging	Het
Rsl1	T	C	13: 67,325,230 (GRCm39)		probably benign	Het
Scart2	T	C	7: 139,876,472 (GRCm39)	L648P	probably benign	Het
Scn9a	T	C	2: 66,357,316 (GRCm39)	K986R	probably benign	Het
Slc22a15	A	G	3: 101,804,482 (GRCm39)	L181P	probably damaging	Het
Slc34a1	T	A	13: 55,556,884 (GRCm39)	L241H	probably damaging	Het
Slc4a4	C	A	5: 89,280,238 (GRCm39)	H354Q	probably damaging	Het
Sorcs2	T	C	5: 36,178,596 (GRCm39)	E1131G	probably damaging	Het
Ssc4d	C	A	5: 135,996,817 (GRCm39)	D95Y	probably damaging	Het
Tcte1	A	T	17: 45,850,594 (GRCm39)	D290V	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tlr4	C	T	4: 66,758,662 (GRCm39)	T485I	probably benign	Het
Trem1	A	G	17: 48,544,277 (GRCm39)	T101A	probably benign	Het
Ttc17	T	C	2: 94,202,141 (GRCm39)	E387G	probably damaging	Het
Vmn2r103	A	T	17: 20,013,259 (GRCm39)	T127S	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
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

2013-06-21