Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Abhd3'

556132

Institutional Source

Beutler Lab

Gene Symbol

Abhd3

Ensembl Gene

ENSMUSG00000002475

Gene Name

abhydrolase domain containing 3

Synonyms

LABH3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10644411-10706784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10645233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 354 (I354F)

Ref Sequence

ENSEMBL: ENSMUSP00000002549 (fasta)

Gene Model

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

AlphaFold

Q91ZH7

Predicted Effect

probably benign
Transcript: ENSMUST00000002549
AA Change: I354F

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: I354F

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

SMART Domains

Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475

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 benign
Transcript: ENSMUST00000117828
AA Change: I349F

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: I349F

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

probably benign
Transcript: ENSMUST00000144150

SMART Domains

Protein: ENSMUSP00000116037
Gene: ENSMUSG00000002475

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

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly 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
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
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'- TGGAGAGTTCATGTCCGTGC -3'
(R):5'- CTGCAGAAAAGCACCTTGG -3'

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

Posted On

2019-06-07