Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Oma1'

15370

Institutional Source

Beutler Lab

Gene Symbol

Oma1

Ensembl Gene

ENSMUSG00000035069

Gene Name

OMA1 zinc metallopeptidase

Synonyms

2010001O09Rik

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103171009-103229065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103223209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 465 (S465T)

Ref Sequence

ENSEMBL: ENSMUSP00000045269 (fasta)

Gene Model

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

AlphaFold

Q9D8H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035780
AA Change: S465T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045269
Gene: ENSMUSG00000035069
AA Change: S465T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133178

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 80.9%
3x: 73.4%
10x: 52.4%
20x: 32.5%

Validation Efficiency

94% (87/93)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Me2	T	G	18: 73,927,596 (GRCm39)	M219L	probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	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
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
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

2012-12-17