Mutagenetix > Incidental Mutation

Incidental Mutation 'R4532:Oma1'

333137

Institutional Source

Beutler Lab

Gene Symbol

Oma1

Ensembl Gene

ENSMUSG00000035069

Gene Name

OMA1 zinc metallopeptidase

Synonyms

2010001O09Rik

MMRRC Submission

041772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103171009-103229065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103176571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 112 (V112I)

Ref Sequence

ENSEMBL: ENSMUSP00000045269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035780]

AlphaFold

Q9D8H7

Predicted Effect

probably benign
Transcript: ENSMUST00000035780
AA Change: V112I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045269
Gene: ENSMUSG00000035069
AA Change: V112I

Domain	Start	End	E-Value	Type
low complexity region	113	125	N/A	INTRINSIC
low complexity region	138	158	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC
Pfam:Peptidase_M48	259	449	2.3e-31	PFAM

Meta Mutation Damage Score

0.2269

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to diet-induced obesity and defective thermogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Aoc1l1	A	G	6: 48,955,101 (GRCm39)	E647G	possibly damaging	Het
Ap3b1	A	G	13: 94,702,243 (GRCm39)	K1099E	unknown	Het
Arhgap42	T	C	9: 9,011,433 (GRCm39)	D451G	probably damaging	Het
Cd19	C	T	7: 126,011,281 (GRCm39)	C301Y	probably damaging	Het
Cdh23	T	C	10: 60,370,202 (GRCm39)	T198A	probably benign	Het
Cdt1	T	C	8: 123,298,495 (GRCm39)	S407P	probably benign	Het
Cyp26c1	A	G	19: 37,674,227 (GRCm39)	T34A	probably damaging	Het
Dbh	C	A	2: 27,067,343 (GRCm39)	H409Q	possibly damaging	Het
Eif5	T	A	12: 111,506,318 (GRCm39)	C52*	probably null	Het
Fhod3	A	G	18: 25,243,278 (GRCm39)	Y1212C	probably damaging	Het
Ggh	T	A	4: 20,046,225 (GRCm39)	F44L	probably benign	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm21095	A	G	Y: 84,131,953 (GRCm39)	N149S	probably damaging	Het
Gys2	T	A	6: 142,400,867 (GRCm39)	H311L	probably damaging	Het
Hcn4	C	T	9: 58,765,081 (GRCm39)	R558C	unknown	Het
Heatr6	T	C	11: 83,660,498 (GRCm39)	L546P	probably damaging	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Lpin1	C	T	12: 16,603,963 (GRCm39)	G623S	probably benign	Het
Lrfn2	A	G	17: 49,377,564 (GRCm39)	D215G	probably damaging	Het
Lrrc3c	C	A	11: 98,489,859 (GRCm39)	S72*	probably null	Het
Me3	G	A	7: 89,282,108 (GRCm39)		probably benign	Het
Msln	A	G	17: 25,969,698 (GRCm39)	I344T	probably damaging	Het
Or5al6	A	T	2: 85,976,274 (GRCm39)	L268Q	possibly damaging	Het
Or5p4	T	C	7: 107,680,756 (GRCm39)	Y252H	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pdgfra	A	G	5: 75,341,744 (GRCm39)	N659S	probably damaging	Het
Rmnd5a	A	T	6: 71,376,109 (GRCm39)		probably null	Het
Slc12a8	C	A	16: 33,371,403 (GRCm39)	R180S	probably damaging	Het
Slc6a15	G	A	10: 103,245,648 (GRCm39)	V544M	possibly damaging	Het
Slco5a1	T	A	1: 12,949,447 (GRCm39)	T648S	probably damaging	Het
Snx13	T	C	12: 35,194,219 (GRCm39)	F921L	probably damaging	Het
Stard6	A	C	18: 70,616,605 (GRCm39)	D88A	probably damaging	Het
Svep1	G	T	4: 58,068,886 (GRCm39)	H2967N	possibly damaging	Het
Tcaf2	A	C	6: 42,603,371 (GRCm39)	Y730D	probably damaging	Het
Tes	G	A	6: 17,097,407 (GRCm39)	V172M	possibly damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Vmn1r23	A	G	6: 57,902,914 (GRCm39)	I288T	probably benign	Het
Vmn1r38	G	T	6: 66,754,016 (GRCm39)	H33Q	probably benign	Het
Vmn2r75	G	T	7: 85,797,349 (GRCm39)	C821*	probably null	Het
Zfp282	C	T	6: 47,867,567 (GRCm39)	P248S	probably benign	Het
Zfp655	T	A	5: 145,181,507 (GRCm39)	I455N	probably benign	Het

Other mutations in Oma1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Oma1	APN	4	103,176,565 (GRCm39)	missense	probably benign	0.22
IGL02317:Oma1	APN	4	103,176,234 (GRCm39)	utr 5 prime	probably benign
IGL02483:Oma1	APN	4	103,182,309 (GRCm39)	nonsense	probably null
R0032:Oma1	UTSW	4	103,223,209 (GRCm39)	missense	possibly damaging	0.93
R0032:Oma1	UTSW	4	103,223,209 (GRCm39)	missense	possibly damaging	0.93
R0386:Oma1	UTSW	4	103,182,398 (GRCm39)	splice site	probably benign
R0699:Oma1	UTSW	4	103,210,792 (GRCm39)	missense	probably damaging	1.00
R0749:Oma1	UTSW	4	103,182,496 (GRCm39)	nonsense	probably null
R1809:Oma1	UTSW	4	103,182,374 (GRCm39)	missense	probably damaging	1.00
R1990:Oma1	UTSW	4	103,178,971 (GRCm39)	missense	probably damaging	0.99
R3622:Oma1	UTSW	4	103,223,288 (GRCm39)	missense	probably benign	0.02
R4916:Oma1	UTSW	4	103,176,727 (GRCm39)	critical splice donor site	probably null
R8069:Oma1	UTSW	4	103,176,232 (GRCm39)	start gained	probably benign
R8290:Oma1	UTSW	4	103,176,671 (GRCm39)	missense	probably damaging	1.00
R8411:Oma1	UTSW	4	103,186,113 (GRCm39)	nonsense	probably null
R8896:Oma1	UTSW	4	103,210,829 (GRCm39)	missense	probably damaging	1.00
R9149:Oma1	UTSW	4	103,182,214 (GRCm39)	critical splice acceptor site	probably null
R9605:Oma1	UTSW	4	103,210,726 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTGAACACAGTCAGTCATTGTC -3'
(R):5'- ATGGCCTAGGGAAAGGTTTC -3'

Sequencing Primer
(F):5'- CACAGTCAGTCATTGTCATTCAGTG -3'
(R):5'- ACTTTAACACAAACACTGTTTTCCC -3'

Posted On

2015-08-18