Mutagenetix > Incidental Mutation

Incidental Mutation 'R6858:Ola1'

535354

Institutional Source

Beutler Lab

Gene Symbol

Ola1

Ensembl Gene

ENSMUSG00000027108

Gene Name

Obg-like ATPase 1

Synonyms

Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik

MMRRC Submission

044960-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

R6858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72923145-73044791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72927574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 335 (H335R)

Ref Sequence

ENSEMBL: ENSMUSP00000028517 (fasta)

Gene Model

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

AlphaFold

Q9CZ30

Predicted Effect

probably damaging
Transcript: ENSMUST00000028517
AA Change: H335R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: H335R

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 benign
Transcript: ENSMUST00000112055

SMART Domains

Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (49/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,538,796 (GRCm39)	T241A	probably benign	Het
Arid4a	A	G	12: 71,070,283 (GRCm39)	I65V	probably benign	Het
Bhmt2	C	T	13: 93,807,948 (GRCm39)	E47K	probably damaging	Het
Bpifa3	G	A	2: 153,979,514 (GRCm39)	G213D	probably benign	Het
C4b	C	G	17: 34,948,805 (GRCm39)	A1548P	probably damaging	Het
Ccdc39	A	G	3: 33,874,017 (GRCm39)	V605A	probably damaging	Het
Cept1	A	T	3: 106,420,195 (GRCm39)		probably null	Het
Cntrl	T	C	2: 35,052,107 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,385,144 (GRCm39)	D87G	probably damaging	Het
Crim1	A	T	17: 78,623,056 (GRCm39)	E418V	probably damaging	Het
Crtac1	T	C	19: 42,307,174 (GRCm39)	I196M	possibly damaging	Het
Crtap	T	C	9: 114,209,084 (GRCm39)	Y320C	probably damaging	Het
Cttnbp2	A	G	6: 18,448,452 (GRCm39)	V27A	probably damaging	Het
Cyp2c69	G	A	19: 39,866,009 (GRCm39)	L195F	probably benign	Het
Cyp2d26	G	A	15: 82,678,284 (GRCm39)	R31C	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fign	G	T	2: 63,810,157 (GRCm39)	T371K	probably benign	Het
Fryl	T	C	5: 73,222,375 (GRCm39)	T2069A	probably damaging	Het
Gm3486	A	G	14: 41,210,322 (GRCm39)	I53T	probably damaging	Het
Gprc5d	T	C	6: 135,093,313 (GRCm39)	N198S	possibly damaging	Het
Ighv1-42	A	G	12: 114,900,966 (GRCm39)	S40P	probably damaging	Het
Itga8	A	G	2: 12,204,892 (GRCm39)	V515A	probably benign	Het
Kidins220	A	T	12: 25,058,542 (GRCm39)	I523L	possibly damaging	Het
Lmx1a	A	T	1: 167,660,450 (GRCm39)	N245I	probably damaging	Het
Med22	T	C	2: 26,795,949 (GRCm39)	D157G	possibly damaging	Het
Or1a1	A	T	11: 74,086,925 (GRCm39)	M199L	probably benign	Het
Or4c12	A	G	2: 89,774,087 (GRCm39)	I124T	probably damaging	Het
Or6c213	A	G	10: 129,574,333 (GRCm39)	F151S	probably damaging	Het
Or7e166	T	C	9: 19,624,765 (GRCm39)	I214T	probably damaging	Het
Or8h9	A	G	2: 86,789,034 (GRCm39)	I256T	probably benign	Het
Pde1a	T	A	2: 79,959,502 (GRCm39)		probably benign	Het
Pdgfrb	G	A	18: 61,198,219 (GRCm39)	G304D	probably benign	Het
Potegl	T	C	2: 23,102,676 (GRCm39)	V138A	possibly damaging	Het
Prune2	T	A	19: 17,095,470 (GRCm39)	C325S	possibly damaging	Het
Ptk2b	T	C	14: 66,450,847 (GRCm39)	I40V	probably damaging	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Scn5a	T	C	9: 119,321,156 (GRCm39)	I1469V	probably benign	Het
Serpina3k	G	A	12: 104,311,504 (GRCm39)	A361T	possibly damaging	Het
Slc25a23	A	G	17: 57,365,171 (GRCm39)	Y73H	probably damaging	Het
Tmco3	A	G	8: 13,363,924 (GRCm39)	D82G	probably damaging	Het
Trbv28	G	T	6: 41,248,624 (GRCm39)	M51I	probably damaging	Het
Unc13b	A	T	4: 43,165,828 (GRCm39)	H204L	possibly damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn1r25	T	C	6: 57,955,996 (GRCm39)	S98G	probably benign	Het
Vmn2r2	A	G	3: 64,044,915 (GRCm39)	F77S	probably damaging	Het
Vmn2r79	A	T	7: 86,686,580 (GRCm39)	M654L	probably benign	Het
Zfp985	A	T	4: 147,667,764 (GRCm39)	K211*	probably null	Het
Zwilch	C	T	9: 64,060,869 (GRCm39)	D328N	probably damaging	Het

Other mutations in Ola1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ola1	APN	2	72,987,241 (GRCm39)	missense	probably benign	0.00
IGL01969:Ola1	APN	2	72,930,490 (GRCm39)	missense	probably benign	0.01
IGL02605:Ola1	APN	2	72,972,644 (GRCm39)	splice site	probably benign
IGL02987:Ola1	APN	2	72,987,242 (GRCm39)	missense	probably benign	0.03
IGL03171:Ola1	APN	2	72,987,197 (GRCm39)	missense	probably benign	0.24
R0602:Ola1	UTSW	2	72,924,056 (GRCm39)	missense	probably damaging	1.00
R1167:Ola1	UTSW	2	72,927,538 (GRCm39)	missense	probably damaging	0.99
R1474:Ola1	UTSW	2	72,987,188 (GRCm39)	missense	probably damaging	1.00
R1650:Ola1	UTSW	2	72,987,238 (GRCm39)	missense	possibly damaging	0.65
R1781:Ola1	UTSW	2	72,987,099 (GRCm39)	missense	possibly damaging	0.92
R3732:Ola1	UTSW	2	72,987,204 (GRCm39)	missense	probably damaging	1.00
R3732:Ola1	UTSW	2	72,987,204 (GRCm39)	missense	probably damaging	1.00
R3733:Ola1	UTSW	2	72,987,204 (GRCm39)	missense	probably damaging	1.00
R3918:Ola1	UTSW	2	72,972,683 (GRCm39)	missense	probably benign	0.33
R4650:Ola1	UTSW	2	72,972,309 (GRCm39)	missense	probably damaging	1.00
R5304:Ola1	UTSW	2	73,029,778 (GRCm39)	missense	probably damaging	0.99
R5352:Ola1	UTSW	2	72,929,674 (GRCm39)	missense	probably damaging	0.99
R5918:Ola1	UTSW	2	72,987,128 (GRCm39)	missense	probably benign	0.18
R6062:Ola1	UTSW	2	73,029,842 (GRCm39)	missense	probably damaging	1.00
R7077:Ola1	UTSW	2	72,972,308 (GRCm39)	missense	probably damaging	1.00
R8223:Ola1	UTSW	2	72,929,694 (GRCm39)	missense	probably damaging	1.00
R8343:Ola1	UTSW	2	73,029,745 (GRCm39)	missense	probably damaging	0.99
R9031:Ola1	UTSW	2	72,924,060 (GRCm39)	missense	probably benign	0.16
R9258:Ola1	UTSW	2	72,929,732 (GRCm39)	missense	probably damaging	0.96
R9641:Ola1	UTSW	2	73,033,784 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATCAGTGCACTACGTTGGTC -3'
(R):5'- TGGTGAAAACGCACTAATCGTG -3'

Sequencing Primer
(F):5'- AGTGCACTACGTTGGTCCTACAAG -3'
(R):5'- GCACTAATCGTGTAGCAGACTTC -3'

Posted On

2018-09-12