Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Ola1'

549259

Institutional Source

Beutler Lab

Gene Symbol

Ola1

Ensembl Gene

ENSMUSG00000027108

Gene Name

Obg-like ATPase 1

Synonyms

2510025G09Rik, 2810409H07Rik, 2810405J23Rik, Gtpbp9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73092801-73218924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73141964 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 221 (T221I)

Ref Sequence

ENSEMBL: ENSMUSP00000028517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028517] [ENSMUST00000100015] [ENSMUST00000112055]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028517
AA Change: T221I

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

SMART Domains

Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: T221I

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:FeoB_N	23	74	2.2e-8	PFAM
Pfam:MMR_HSR1	24	164	1.2e-22	PFAM
Pfam:YchF-GTPase_C	305	388	9e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100015
AA Change: T221I

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

SMART Domains

Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: T221I

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:FeoB_N	23	74	1.4e-8	PFAM
Pfam:MMR_HSR1	24	231	5.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112055
AA Change: T221I

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

SMART Domains

Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: T221I

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:FeoB_N	23	74	1.5e-7	PFAM
Pfam:MMR_HSR1	24	259	3.2e-18	PFAM
low complexity region	261	272	N/A	INTRINSIC

Meta Mutation Damage Score

0.7105

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null allele display partial neonatal lethality, embryonic developmental delay, delayed development of lung and liver, and reduced body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Ola1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ola1	APN	2	73156897	missense	probably benign	0.00
IGL01969:Ola1	APN	2	73100146	missense	probably benign	0.01
IGL02605:Ola1	APN	2	73142300	splice site	probably benign
IGL02987:Ola1	APN	2	73156898	missense	probably benign	0.03
IGL03171:Ola1	APN	2	73156853	missense	probably benign	0.24
R0602:Ola1	UTSW	2	73093712	missense	probably damaging	1.00
R1167:Ola1	UTSW	2	73097194	missense	probably damaging	0.99
R1474:Ola1	UTSW	2	73156844	missense	probably damaging	1.00
R1650:Ola1	UTSW	2	73156894	missense	possibly damaging	0.65
R1781:Ola1	UTSW	2	73156755	missense	possibly damaging	0.92
R3732:Ola1	UTSW	2	73156860	missense	probably damaging	1.00
R3732:Ola1	UTSW	2	73156860	missense	probably damaging	1.00
R3733:Ola1	UTSW	2	73156860	missense	probably damaging	1.00
R3918:Ola1	UTSW	2	73142339	missense	probably benign	0.33
R4650:Ola1	UTSW	2	73141965	missense	probably damaging	1.00
R5304:Ola1	UTSW	2	73199434	missense	probably damaging	0.99
R5352:Ola1	UTSW	2	73099330	missense	probably damaging	0.99
R5918:Ola1	UTSW	2	73156784	missense	probably benign	0.18
R6062:Ola1	UTSW	2	73199498	missense	probably damaging	1.00
R6858:Ola1	UTSW	2	73097230	missense	probably damaging	0.97
R8223:Ola1	UTSW	2	73099350	missense	probably damaging	1.00
R8343:Ola1	UTSW	2	73199401	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGGCTACAAGATCTCAGTTTC -3'
(R):5'- CAGCCGGTGTAAATTCCTAAGC -3'

Sequencing Primer
(F):5'- GGCTACAAGATCTCAGTTTCAAACAC -3'
(R):5'- TCCCTTTTCCAATCTCCCAC -3'

Posted On

2019-05-15