Mutagenetix > Incidental Mutation

Incidental Mutation 'R5924:Abhd3'

461758

Institutional Source

Beutler Lab

Gene Symbol

Abhd3

Ensembl Gene

ENSMUSG00000002475

Gene Name

abhydrolase domain containing 3

Synonyms

LABH3

MMRRC Submission

044119-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R5924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10644411-10706784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10706085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 76 (Y76C)

Ref Sequence

ENSEMBL: ENSMUSP00000113137 (fasta)

Gene Model

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

AlphaFold

Q91ZH7

Predicted Effect

probably benign
Transcript: ENSMUST00000002549
AA Change: Y81C

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: Y81C

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 benign
Transcript: ENSMUST00000117726
AA Change: Y76C

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: Y76C

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: Y76C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: Y76C

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

noncoding transcript
Transcript: ENSMUST00000180948

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.7%

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, 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	T	7: 76,058,982 (GRCm39)	T204I	probably benign	Het
Apc2	A	T	10: 80,147,984 (GRCm39)	I984F	probably damaging	Het
Art3	A	T	5: 92,560,091 (GRCm39)		probably benign	Het
B4galnt4	A	G	7: 140,650,742 (GRCm39)	M839V	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cdhr2	A	C	13: 54,874,496 (GRCm39)	D856A	probably benign	Het
Cep78	A	T	19: 15,938,430 (GRCm39)	L506Q	probably damaging	Het
Col6a1	A	G	10: 76,554,205 (GRCm39)		probably null	Het
Cyp3a44	A	T	5: 145,731,137 (GRCm39)	F221Y	possibly damaging	Het
Dcakd	C	A	11: 102,890,646 (GRCm39)	R47L	probably benign	Het
Ddr2	A	G	1: 169,822,197 (GRCm39)	V417A	probably benign	Het
Dnah5	A	T	15: 28,307,473 (GRCm39)	T1734S	probably benign	Het
Eefsec	A	T	6: 88,332,529 (GRCm39)	M227K	probably damaging	Het
Eif4g3	T	G	4: 137,929,237 (GRCm39)	N1628K	probably damaging	Het
Epha5	A	T	5: 84,381,533 (GRCm39)	Y439*	probably null	Het
Esrp1	G	T	4: 11,361,174 (GRCm39)	T324K	probably damaging	Het
Flnb	T	A	14: 7,890,765 (GRCm38)	M549K	probably benign	Het
Fndc1	T	A	17: 7,992,442 (GRCm39)	Q418L	unknown	Het
Ggnbp2	A	G	11: 84,749,363 (GRCm39)	S144P	possibly damaging	Het
Gk5	T	C	9: 96,032,563 (GRCm39)		probably null	Het
Gpr137	A	G	19: 6,916,729 (GRCm39)	L228P	probably damaging	Het
Gpt2	C	A	8: 86,219,633 (GRCm39)	S26R	probably damaging	Het
Hras	C	T	7: 140,772,374 (GRCm39)	E91K	possibly damaging	Het
Ighv1-36	G	A	12: 114,843,777 (GRCm39)	P28S	possibly damaging	Het
Kalrn	G	A	16: 34,064,203 (GRCm39)	T807M	probably damaging	Het
Lifr	A	G	15: 7,202,453 (GRCm39)	T365A	probably benign	Het
Lpin1	A	T	12: 16,594,658 (GRCm39)	S795T	possibly damaging	Het
Magi2	A	C	5: 20,816,067 (GRCm39)	M1128L	probably benign	Het
Magi3	A	T	3: 103,961,854 (GRCm39)		probably null	Het
Mier1	T	A	4: 103,016,899 (GRCm39)	L380*	probably null	Het
Mtmr14	A	G	6: 113,230,750 (GRCm39)	Y118C	probably damaging	Het
Myof	A	T	19: 37,971,421 (GRCm39)	M277K	probably damaging	Het
Nlrp6	T	C	7: 140,503,403 (GRCm39)	V473A	probably damaging	Het
Nsfl1c	T	A	2: 151,347,320 (GRCm39)	N164K	probably benign	Het
Olfm3	A	T	3: 114,916,187 (GRCm39)	Q353L	probably benign	Het
Opn5	A	T	17: 42,922,199 (GRCm39)	M1K	probably null	Het
Or2y3	A	G	17: 38,393,254 (GRCm39)	V205A	probably benign	Het
Or4k15	A	G	14: 50,364,139 (GRCm39)	Y35C	probably damaging	Het
Or5d41	T	C	2: 88,054,891 (GRCm39)	I162V	probably benign	Het
Pax8	A	G	2: 24,311,634 (GRCm39)	S434P	probably damaging	Het
Pigo	G	A	4: 43,023,389 (GRCm39)	Q256*	probably null	Het
Pik3ap1	A	C	19: 41,284,895 (GRCm39)	F597V	probably damaging	Het
Pkd2	A	G	5: 104,646,424 (GRCm39)	K744E	probably damaging	Het
Prom1	T	C	5: 44,162,305 (GRCm39)	T729A	probably benign	Het
Rasal1	T	C	5: 120,813,582 (GRCm39)	L652P	probably damaging	Het
Sebox	T	C	11: 78,395,017 (GRCm39)		probably null	Het
Setd2	A	T	9: 110,403,112 (GRCm39)	I1918F	probably benign	Het
Slc24a2	A	T	4: 86,929,825 (GRCm39)		probably null	Het
Slc28a1	G	T	7: 80,765,360 (GRCm39)	G25V	probably benign	Het
Slc51a	A	G	16: 32,295,990 (GRCm39)	F259L	possibly damaging	Het
Slco2a1	T	A	9: 102,923,898 (GRCm39)	C37*	probably null	Het
Speer4f2	A	G	5: 17,581,622 (GRCm39)	D188G	probably damaging	Het
Stim2	A	G	5: 54,259,985 (GRCm39)	K156E	probably benign	Het
Strn4	T	C	7: 16,572,246 (GRCm39)	I653T	probably damaging	Het
Tacr3	G	T	3: 134,638,060 (GRCm39)	D406Y	possibly damaging	Het
Utp20	G	A	10: 88,651,784 (GRCm39)	R400C	probably benign	Het
V1rd19	C	T	7: 23,703,374 (GRCm39)	S280L	probably benign	Het
Vmn2r4	C	T	3: 64,296,685 (GRCm39)	C700Y	probably damaging	Het
Zup1	A	T	10: 33,803,543 (GRCm39)	C514S	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
R6210:Abhd3	UTSW	18	10,706,032 (GRCm39)	missense	probably damaging	0.97
R7020:Abhd3	UTSW	18	10,645,127 (GRCm39)	missense	probably damaging	1.00
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'- GTTTCCTTTTGTTAACCACAGGTG -3'
(R):5'- GAATTCTGTGCGTCAGTCTCC -3'

Sequencing Primer
(F):5'- CCACAGGTGTATTAACTAAGAACTGG -3'
(R):5'- TCTCCGGGGAGATGGAATC -3'

Posted On

2017-02-28