Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02317:Oma1'

288090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oma1

Ensembl Gene

ENSMUSG00000035069

Gene Name

OMA1 zinc metallopeptidase

Synonyms

2010001O09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02317

Quality Score

Status

Chromosome

Chromosomal Location

103171009-103229065 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 103176234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045269 (fasta)

Gene Model

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

AlphaFold

Q9D8H7

Predicted Effect

probably benign
Transcript: ENSMUST00000035780

SMART Domains

Protein: ENSMUSP00000045269
Gene: ENSMUSG00000035069

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

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,780 (GRCm39)		noncoding transcript	Het
Aadacl2fm3	A	G	3: 59,784,408 (GRCm39)	N294D	probably benign	Het
Aak1	C	T	6: 86,933,282 (GRCm39)	P418S	possibly damaging	Het
Abca5	T	A	11: 110,218,587 (GRCm39)	Q93L	probably benign	Het
Arhgap22	G	T	14: 33,081,230 (GRCm39)	V209L	probably damaging	Het
Atp6v1h	G	T	1: 5,154,693 (GRCm39)	R7L	possibly damaging	Het
Ccdc86	T	C	19: 10,920,556 (GRCm39)	Q420R	possibly damaging	Het
Cep85	C	T	4: 133,883,122 (GRCm39)	G256R	probably damaging	Het
Csmd2	T	C	4: 128,357,520 (GRCm39)		probably benign	Het
Dck	T	C	5: 88,921,942 (GRCm39)	Y135H	probably damaging	Het
Dicer1	T	C	12: 104,663,279 (GRCm39)	E1434G	probably damaging	Het
Dst	C	T	1: 34,334,244 (GRCm39)	T4824I	probably damaging	Het
Fam20c	G	A	5: 138,792,115 (GRCm39)	R404H	probably damaging	Het
Fat1	G	A	8: 45,478,855 (GRCm39)	A2611T	probably benign	Het
Fbxl13	C	T	5: 21,727,232 (GRCm39)	C555Y	probably benign	Het
Gprc6a	C	A	10: 51,497,049 (GRCm39)	R323L	probably benign	Het
Grik2	A	G	10: 49,298,711 (GRCm39)	F50L	probably benign	Het
Ibsp	A	G	5: 104,450,332 (GRCm39)	Y50C	probably damaging	Het
Il16	T	A	7: 83,316,097 (GRCm39)	H437L	probably damaging	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Jph1	T	C	1: 17,074,147 (GRCm39)	T624A	probably benign	Het
Lama5	T	C	2: 179,833,112 (GRCm39)	Y1574C	probably damaging	Het
Lrrc26	A	G	2: 25,180,314 (GRCm39)	N105S	probably damaging	Het
Megf8	C	A	7: 25,063,213 (GRCm39)	T2523K	probably damaging	Het
Nckap1l	A	G	15: 103,370,005 (GRCm39)	I135V	probably benign	Het
Opa1	T	G	16: 29,433,984 (GRCm39)		probably null	Het
Or13j1	T	C	4: 43,706,172 (GRCm39)	Y132C	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or5m3b	T	C	2: 85,871,913 (GRCm39)	S85P	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Rab11b	C	T	17: 33,968,790 (GRCm39)	A43T	probably damaging	Het
Rabl2	A	T	15: 89,468,492 (GRCm39)	N133K	probably damaging	Het
Scn10a	C	T	9: 119,467,621 (GRCm39)	V840I	probably benign	Het
Spata31d1b	T	C	13: 59,865,854 (GRCm39)	S1001P	probably damaging	Het
Tbc1d8	T	C	1: 39,415,985 (GRCm39)	E896G	probably benign	Het
Ube2o	T	C	11: 116,432,389 (GRCm39)	E859G	probably damaging	Het
Vmn1r197	A	G	13: 22,512,073 (GRCm39)		probably benign	Het
Vmn2r58	A	G	7: 41,486,765 (GRCm39)	I710T	possibly damaging	Het
Zmynd8	T	C	2: 165,662,492 (GRCm39)	T533A	possibly damaging	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
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
R4532:Oma1	UTSW	4	103,176,571 (GRCm39)	missense	probably benign	0.22
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

Posted On

2015-04-16