Mutagenetix > Incidental Mutations

Incidental Mutation 'R0724:Oacyl'

63837

Institutional Source

Beutler Lab

Gene Symbol

Oacyl

Ensembl Gene

ENSMUSG00000046610

Gene Name

O-acyltransferase like

Synonyms

5330437I02Rik

MMRRC Submission

038906-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0724 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65698268-65751601 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 65737825 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115097] [ENSMUST00000117694]

Predicted Effect

probably benign
Transcript: ENSMUST00000115097

SMART Domains

Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
NRF	24	145	3.58e-13	SMART
Blast:NRF	152	191	1e-6	BLAST
Pfam:Acyl_transf_3	274	664	6.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117694

SMART Domains

Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:NRF	24	118	4e-14	BLAST
Pfam:Acyl_transf_3	201	591	6.7e-23	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	Het

Other mutations in Oacyl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Oacyl	APN	18	65749640	missense	possibly damaging	0.65
IGL00972:Oacyl	APN	18	65725501	missense	possibly damaging	0.95
IGL01970:Oacyl	APN	18	65749714	missense	possibly damaging	0.77
IGL02030:Oacyl	APN	18	65737910	missense	probably damaging	0.99
IGL02706:Oacyl	APN	18	65749721	missense	probably damaging	1.00
R0529:Oacyl	UTSW	18	65742219	missense	probably damaging	0.97
R0607:Oacyl	UTSW	18	65747891	missense	possibly damaging	0.61
R1138:Oacyl	UTSW	18	65725450	missense	probably damaging	1.00
R1482:Oacyl	UTSW	18	65737972	missense	probably damaging	1.00
R1551:Oacyl	UTSW	18	65742209	missense	probably benign	0.02
R1649:Oacyl	UTSW	18	65750096	missense	probably damaging	1.00
R1919:Oacyl	UTSW	18	65710547	missense	possibly damaging	0.87
R4271:Oacyl	UTSW	18	65737967	missense	probably damaging	1.00
R5443:Oacyl	UTSW	18	65750182	missense	probably benign
R5525:Oacyl	UTSW	18	65745356	missense	probably benign	0.00
R5879:Oacyl	UTSW	18	65749672	missense	probably damaging	1.00
R6132:Oacyl	UTSW	18	65726355	missense	probably damaging	1.00
R6367:Oacyl	UTSW	18	65725444	missense	probably damaging	1.00
R7009:Oacyl	UTSW	18	65722538	nonsense	probably null
R7097:Oacyl	UTSW	18	65720252	missense	probably benign	0.00
R7122:Oacyl	UTSW	18	65720252	missense	probably benign	0.00
R7132:Oacyl	UTSW	18	65698409	missense	probably damaging	1.00
R7260:Oacyl	UTSW	18	65698367	missense	probably damaging	1.00
R7403:Oacyl	UTSW	18	65737895	missense	probably benign	0.15
R7501:Oacyl	UTSW	18	65725298	intron	probably null
R7759:Oacyl	UTSW	18	65710560	missense	probably damaging	1.00
R7892:Oacyl	UTSW	18	65737847	missense	probably benign	0.00
R7975:Oacyl	UTSW	18	65737847	missense	probably benign	0.00
Z1177:Oacyl	UTSW	18	65725347	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGGAAGAACATGCACTGTACCCATC -3'
(R):5'- AACTCACGGCATTCTGGACAGAC -3'

Sequencing Primer
(F):5'- CCCATCTTACAGGTGAATGACTGG -3'
(R):5'- TCTGGACAGACAGGAAGTTATTC -3'

Posted On

2013-07-30