Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:Abhd3'

545589

Institutional Source

Beutler Lab

Gene Symbol

Abhd3

Ensembl Gene

ENSMUSG00000002475

Gene Name

abhydrolase domain containing 3

Synonyms

LABH3

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10644411-10706784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10645127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 384 (Y384C)

Ref Sequence

ENSEMBL: ENSMUSP00000113137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002549] [ENSMUST00000117726] [ENSMUST00000117828]

AlphaFold

Q91ZH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002549
AA Change: Y389C

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

SMART Domains

Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: Y389C

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:Abhydrolase_1	140	252	2.4e-10	PFAM
Pfam:Abhydrolase_5	141	376	1.2e-10	PFAM
Pfam:Abhydrolase_6	142	384	9.1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117726
AA Change: Y380C

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

SMART Domains

Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: Y380C

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Abhydrolase_5	136	374	5.3e-10	PFAM
Pfam:Abhydrolase_6	137	379	2.8e-17	PFAM
Pfam:Abhydrolase_1	164	373	6.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117828
AA Change: Y384C

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

SMART Domains

Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: Y384C

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Abhydrolase_5	136	371	9e-11	PFAM
Pfam:Abhydrolase_6	137	383	1.6e-17	PFAM
Pfam:Abhydrolase_1	164	377	4e-13	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116037
Gene: ENSMUSG00000002475
AA Change: Y151C

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
SCOP:d1ibja_	121	158	3e-3	SMART

Meta Mutation Damage Score

0.7859

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,634,975 (GRCm39)	G188R	probably damaging	Het
Cd209b	T	A	8: 3,968,783 (GRCm39)	E282V	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Iglon5	A	T	7: 43,126,319 (GRCm39)	C195S	probably damaging	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5g23	A	G	2: 85,438,976 (GRCm39)	S93P	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Rtl1	T	C	12: 109,558,749 (GRCm39)	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	probably damaging	Het

Other mutations in Abhd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Abhd3	APN	18	10,647,869 (GRCm39)	missense	possibly damaging	0.94
IGL00825:Abhd3	APN	18	10,704,657 (GRCm39)	missense	probably benign
IGL02666:Abhd3	APN	18	10,645,148 (GRCm39)	missense	probably benign	0.00
IGL02683:Abhd3	APN	18	10,658,790 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Abhd3	UTSW	18	10,645,233 (GRCm39)	missense	probably benign	0.23
R0158:Abhd3	UTSW	18	10,647,840 (GRCm39)	missense	possibly damaging	0.68
R0539:Abhd3	UTSW	18	10,645,208 (GRCm39)	missense	possibly damaging	0.89
R4543:Abhd3	UTSW	18	10,706,672 (GRCm39)	missense	possibly damaging	0.88
R4847:Abhd3	UTSW	18	10,647,786 (GRCm39)	missense	possibly damaging	0.78
R5924:Abhd3	UTSW	18	10,706,085 (GRCm39)	missense	probably damaging	1.00
R6210:Abhd3	UTSW	18	10,706,032 (GRCm39)	missense	probably damaging	0.97
R9232:Abhd3	UTSW	18	10,652,198 (GRCm39)	missense	probably benign	0.00
R9456:Abhd3	UTSW	18	10,645,121 (GRCm39)	missense	probably benign	0.03
R9620:Abhd3	UTSW	18	10,704,605 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTCATGCTGGACCTCTTCAC -3'
(R):5'- TGCAGAAAAGCACCTTGGC -3'

Sequencing Primer
(F):5'- ACCCATCTGCCGGCTTG -3'
(R):5'- AGTCAAACTCATTGCATTTAGCC -3'

Posted On

2019-05-13