Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Oaf'

284997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oaf

Ensembl Gene

ENSMUSG00000032014

Gene Name

out at first homolog

Synonyms

D130038B21Rik, D9Ucla1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

43132575-43151113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43136219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 119 (H119L)

Ref Sequence

ENSEMBL: ENSMUSP00000034512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034512]

AlphaFold

Q8QZR4

Predicted Effect

probably benign
Transcript: ENSMUST00000034512
AA Change: H119L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034512
Gene: ENSMUSG00000032014
AA Change: H119L

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:OAF	42	280	1.7e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215387

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,838 (GRCm39)	D122G	probably benign	Het
Abcc8	T	C	7: 45,769,860 (GRCm39)	D885G	probably benign	Het
Abcf1	T	C	17: 36,269,230 (GRCm39)	K676R	probably benign	Het
Acsf2	A	G	11: 94,492,589 (GRCm39)	V3A	probably benign	Het
Apba2	C	T	7: 64,345,425 (GRCm39)	T205I	probably benign	Het
Bricd5	C	A	17: 24,694,296 (GRCm39)	Y171*	probably null	Het
Camk2d	T	G	3: 126,633,802 (GRCm39)	N441K	probably benign	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Chd3	C	T	11: 69,242,920 (GRCm39)		probably benign	Het
Cipc	A	G	12: 87,008,702 (GRCm39)	N166S	probably damaging	Het
Cln5	A	C	14: 103,313,276 (GRCm39)		probably null	Het
Cnbd1	C	A	4: 18,887,739 (GRCm39)	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,744,183 (GRCm39)	L383P	probably damaging	Het
Dnai4	A	G	4: 102,953,971 (GRCm39)	V76A	probably damaging	Het
Dok3	A	G	13: 55,671,599 (GRCm39)	L324P	probably damaging	Het
Eftud2	A	T	11: 102,761,039 (GRCm39)	F102Y	possibly damaging	Het
Ewsr1	G	A	11: 5,020,668 (GRCm39)	P551S	unknown	Het
Fam193a	G	T	5: 34,600,932 (GRCm39)	V346L	possibly damaging	Het
Golim4	A	G	3: 75,785,361 (GRCm39)	S677P	probably damaging	Het
Gpr149	A	G	3: 62,437,952 (GRCm39)		probably benign	Het
Ins1	A	T	19: 52,253,121 (GRCm39)	K20N	probably benign	Het
Itpr2	A	T	6: 146,141,760 (GRCm39)		probably benign	Het
Jup	G	A	11: 100,272,665 (GRCm39)	T249I	probably damaging	Het
Kctd20	T	A	17: 29,176,877 (GRCm39)	N2K	probably benign	Het
Kif15	A	G	9: 122,824,892 (GRCm39)		probably benign	Het
Klrb1-ps1	T	C	6: 129,106,269 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,884 (GRCm39)		probably null	Het
Lamb3	A	T	1: 193,010,941 (GRCm39)		probably null	Het
Large1	A	G	8: 73,638,750 (GRCm39)	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,185,684 (GRCm39)	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,391,207 (GRCm39)	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,795,822 (GRCm39)	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,048,793 (GRCm39)	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,822,629 (GRCm39)		probably benign	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,256,491 (GRCm39)	D225N	probably benign	Het
Nckap1l	T	A	15: 103,391,954 (GRCm39)	S796R	possibly damaging	Het
Or4d1	A	T	11: 87,804,889 (GRCm39)	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,806,081 (GRCm39)	H516L	probably damaging	Het
Pkd1l3	A	T	8: 110,387,434 (GRCm39)	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,394,255 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slc2a2	A	T	3: 28,752,174 (GRCm39)	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,512,292 (GRCm39)	F14S	probably damaging	Het
Sspn	T	C	6: 145,907,112 (GRCm39)	V105A	probably damaging	Het
Syvn1	T	C	19: 6,100,229 (GRCm39)	I263T	probably damaging	Het
Tek	A	C	4: 94,743,574 (GRCm39)	D863A	probably damaging	Het
Tent5b	C	T	4: 133,213,462 (GRCm39)	A111V	probably damaging	Het
Tm9sf4	G	T	2: 153,046,536 (GRCm39)	V592F	probably benign	Het
Tmem259	A	G	10: 79,814,151 (GRCm39)	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,871,409 (GRCm39)	E84G	possibly damaging	Het
Ttyh3	T	C	5: 140,612,246 (GRCm39)	E487G	probably damaging	Het
Ubtf	C	A	11: 102,197,526 (GRCm39)	E709*	probably null	Het
Vmn1r119	T	C	7: 20,745,561 (GRCm39)	R274G	probably benign	Het
Zfp804a	A	G	2: 82,089,546 (GRCm39)	Q1125R	probably damaging	Het

Other mutations in Oaf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Oaf	APN	9	43,135,313 (GRCm39)	missense	probably damaging	0.99
IGL01634:Oaf	APN	9	43,135,301 (GRCm39)	missense	probably damaging	1.00
R1544:Oaf	UTSW	9	43,133,930 (GRCm39)	missense	probably damaging	1.00
R1636:Oaf	UTSW	9	43,150,621 (GRCm39)	missense	probably benign	0.00
R3870:Oaf	UTSW	9	43,134,055 (GRCm39)	missense	probably benign	0.40
R5795:Oaf	UTSW	9	43,135,241 (GRCm39)	missense	probably damaging	0.99
R6307:Oaf	UTSW	9	43,136,216 (GRCm39)	missense	possibly damaging	0.79
R7524:Oaf	UTSW	9	43,134,077 (GRCm39)	missense	probably damaging	1.00
R7843:Oaf	UTSW	9	43,134,077 (GRCm39)	missense	probably damaging	1.00
R7846:Oaf	UTSW	9	43,134,077 (GRCm39)	missense	probably damaging	1.00
R7848:Oaf	UTSW	9	43,134,077 (GRCm39)	missense	probably damaging	1.00
R7849:Oaf	UTSW	9	43,134,077 (GRCm39)	missense	probably damaging	1.00
R7889:Oaf	UTSW	9	43,133,968 (GRCm39)	missense	possibly damaging	0.79
R8238:Oaf	UTSW	9	43,150,642 (GRCm39)	missense	probably damaging	1.00
R9043:Oaf	UTSW	9	43,135,308 (GRCm39)	missense	probably damaging	1.00
R9044:Oaf	UTSW	9	43,135,308 (GRCm39)	missense	probably damaging	1.00
R9154:Oaf	UTSW	9	43,133,992 (GRCm39)	missense	probably damaging	1.00
R9273:Oaf	UTSW	9	43,133,966 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16