Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Abhd11'

403532

Institutional Source

Beutler Lab

Gene Symbol

Abhd11

Ensembl Gene

ENSMUSG00000040532

Gene Name

abhydrolase domain containing 11

Synonyms

Wbscr21, A630008N09Rik, 1110054D16Rik

MMRRC Submission

042790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135038006-135041029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135040398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 144 (W144R)

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 damaging
Transcript: ENSMUST00000046999
AA Change: W224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043041
Gene: ENSMUSG00000040532
AA Change: W224R

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: W144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106847
Gene: ENSMUSG00000040532
AA Change: W144R

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: W144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144449
Gene: ENSMUSG00000040532
AA Change: W144R

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

Meta Mutation Damage Score

0.9666

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Acbd3	A	G	1: 180,553,938 (GRCm39)	Y91C	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Krit1	T	A	5: 3,856,451 (GRCm39)	C15*	probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nhsl3	C	T	4: 129,116,478 (GRCm39)	E729K	probably damaging	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmem216	G	A	19: 10,529,155 (GRCm39)	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het
Zmym6	C	A	4: 126,999,167 (GRCm39)	N450K	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCTTAGTTCGGTTGTCAAG -3'
(R):5'- GTATTGCCAGGCTCCCAGATAC -3'

Sequencing Primer
(F):5'- GTCAAGGTGACGCACGC -3'
(R):5'- CACGCAGGCTCCCATAG -3'

Posted On

2016-07-22