Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Abhd3'

724751

Institutional Source

Beutler Lab

Gene Symbol

Abhd3

Ensembl Gene

ENSMUSG00000002475

Gene Name

abhydrolase domain containing 3

Synonyms

LABH3

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10644411-10706784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10704605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 151 (T151K)

Ref Sequence

ENSEMBL: ENSMUSP00000002549 (fasta)

Gene Model

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

AlphaFold

Q91ZH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002549
AA Change: T151K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: T151K

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

possibly damaging
Transcript: ENSMUST00000117726
AA Change: T146K

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: T146K

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

possibly damaging
Transcript: ENSMUST00000117828
AA Change: T146K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: T146K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGTGAGGTGATCAGTTAGGAAAG -3'
(R):5'- GCAACTGAAAGGACTGCTCAG -3'

Sequencing Primer
(F):5'- GGTTGCGATATGTACCCTAATAGCC -3'
(R):5'- GACTGCTCAGTAATGCCTTTGGAAC -3'

Posted On

2022-09-12