Mutagenetix > Incidental Mutation

Incidental Mutation 'R8238:Oaf'

637467

Institutional Source

Beutler Lab

Gene Symbol

Oaf

Ensembl Gene

ENSMUSG00000032014

Gene Name

out at first homolog

Synonyms

D130038B21Rik, D9Ucla1

MMRRC Submission

067670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43132575-43151113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43150642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 77 (D77N)

Ref Sequence

ENSEMBL: ENSMUSP00000034512 (fasta)

Gene Model

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

AlphaFold

Q8QZR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034512
AA Change: D77N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034512
Gene: ENSMUSG00000032014
AA Change: D77N

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	G	8: 44,103,993 (GRCm39)	Y551H	probably damaging	Het
Ak1	T	A	2: 32,523,681 (GRCm39)	V198D	probably damaging	Het
Alx1	C	T	10: 102,858,076 (GRCm39)	D208N	possibly damaging	Het
Aoc1l3	A	G	6: 48,966,975 (GRCm39)	E641G	probably damaging	Het
Atp5f1b	T	A	10: 127,921,019 (GRCm39)	I182N	possibly damaging	Het
Cabp5	T	A	7: 13,139,377 (GRCm39)	M134K	probably damaging	Het
Camsap2	A	T	1: 136,221,764 (GRCm39)	I227N	probably benign	Het
Cfap44	G	A	16: 44,235,668 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,988,842 (GRCm39)		probably null	Het
Etl4	C	T	2: 20,811,342 (GRCm39)	R1510*	probably null	Het
Fgr	C	T	4: 132,724,832 (GRCm39)	A311V	probably damaging	Het
Glipr1	C	T	10: 111,829,345 (GRCm39)		probably null	Het
Gm10799	A	G	2: 103,898,496 (GRCm39)	F70L	probably benign	Het
Gm14412	A	T	2: 177,007,111 (GRCm39)	H261Q	unknown	Het
Hey2	T	A	10: 30,716,659 (GRCm39)	M35L	probably benign	Het
Hspb7	A	G	4: 141,149,857 (GRCm39)	Y81C	probably damaging	Het
Ipo5	A	T	14: 121,172,652 (GRCm39)	K570M	probably damaging	Het
Iqsec1	A	T	6: 90,666,912 (GRCm39)	H404Q	probably benign	Het
Kif5b	T	A	18: 6,227,619 (GRCm39)	Q86L	probably damaging	Het
Lrrtm4	T	A	6: 79,999,668 (GRCm39)	I360N	probably damaging	Het
Mup6	T	A	4: 60,003,634 (GRCm39)	V29E	probably damaging	Het
Ncstn	G	T	1: 171,900,043 (GRCm39)	A277E	probably damaging	Het
Nsun3	A	G	16: 62,591,076 (GRCm39)	V189A	probably damaging	Het
Or13a27	A	C	7: 139,925,803 (GRCm39)	L33W	probably damaging	Het
Or55b10	T	C	7: 102,143,827 (GRCm39)	T52A	possibly damaging	Het
Pard6a	A	G	8: 106,429,366 (GRCm39)	D138G	probably damaging	Het
Ppp4r4	A	C	12: 103,557,066 (GRCm39)	H434P	probably benign	Het
Sec23b	T	C	2: 144,406,568 (GRCm39)	I121T	probably benign	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc7a14	C	A	3: 31,281,300 (GRCm39)	V337L	probably benign	Het
Tdh	C	T	14: 63,733,173 (GRCm39)	G206E	probably damaging	Het
Vmn1r231	T	C	17: 21,110,640 (GRCm39)	T92A	probably benign	Het
Vmn2r36	T	G	7: 7,892,015 (GRCm39)	H431P	probably benign	Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps11	T	C	9: 44,264,057 (GRCm39)	T759A	probably benign	Het
Xdh	G	T	17: 74,193,412 (GRCm39)	Q1295K	probably benign	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
IGL02218:Oaf	APN	9	43,136,219 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTGGGCATGTCACGTTC -3'
(R):5'- ACTTCGAGCAAACTTTGTAGGC -3'

Sequencing Primer
(F):5'- ATGTCACGTTCCCCTTTCGG -3'
(R):5'- AGCAAACTTTGTAGGCGCGTC -3'

Posted On

2020-07-13