Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Ola1'

423826

Institutional Source

Beutler Lab

Gene Symbol

Ola1

Ensembl Gene

ENSMUSG00000027108

Gene Name

Obg-like ATPase 1

Synonyms

2510025G09Rik, 2810409H07Rik, 2810405J23Rik, Gtpbp9

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73092801-73218924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73099330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 310 (T310A)

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: T310A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: T310A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152608

Meta Mutation Damage Score

0.9175

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,618,701	L206*	probably null	Het
Adgrv1	T	C	13: 81,494,657	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,473,746	T41M	probably damaging	Het
Akap6	A	T	12: 52,796,097	E76V	probably damaging	Het
Ank2	C	A	3: 127,498,991		probably benign	Het
Atp6ap1l	A	C	13: 90,883,756	L269R	probably damaging	Het
Blk	A	G	14: 63,375,971	S363P	probably damaging	Het
Btnl9	T	C	11: 49,178,840	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,706,213	W672C	probably damaging	Het
Ccnf	A	G	17: 24,243,273		probably null	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Chst1	A	G	2: 92,613,365	T61A	possibly damaging	Het
Col6a4	G	A	9: 106,061,544	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,961,411	T976P	unknown	Het
Corin	C	T	5: 72,305,033	S811N	probably benign	Het
Dnal1	T	C	12: 84,136,548	V27A	possibly damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,472,901	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,318	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,334,079	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,752,162		noncoding transcript	Het
Gm27047	G	A	6: 130,631,019		noncoding transcript	Het
Grm5	A	G	7: 88,074,850	I783V	probably damaging	Het
Hk1	A	T	10: 62,304,770	S113T	probably damaging	Het
Iqca	A	T	1: 90,130,196	N260K	probably benign	Het
Iws1	A	T	18: 32,083,404	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,464,358	I68T	probably damaging	Het
Man2a1	T	C	17: 64,731,246	I75T	probably damaging	Het
Med13	T	A	11: 86,301,468	I824L	possibly damaging	Het
Meioc	A	T	11: 102,675,313	E585V	probably benign	Het
Mrgpre	A	C	7: 143,781,094	F224C	probably damaging	Het
Muc5b	T	A	7: 141,864,558	F3747Y	possibly damaging	Het
Nlrp4e	T	C	7: 23,353,173	V839A	probably benign	Het
Nup210	A	T	6: 91,069,316	V545E	probably damaging	Het
Pdxdc1	T	C	16: 13,840,311	N516S	probably benign	Het
Phlpp1	A	G	1: 106,172,725	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,428,083	V85A	probably damaging	Het
Rasa3	A	C	8: 13,631,778	L57R	possibly damaging	Het
Rp1	T	C	1: 4,347,098	S1264G	probably benign	Het
Rprd1b	A	G	2: 158,058,736	E247G	probably damaging	Het
Sag	G	T	1: 87,812,993	V46L	probably benign	Het
Sat2	A	T	11: 69,622,315	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,601,036	Y199N	probably benign	Het
Slc9a3r2	C	T	17: 24,642,255	R66H	probably damaging	Het
Snx2	A	G	18: 53,197,925		probably null	Het
Thbs4	T	C	13: 92,763,590	D466G	probably damaging	Het
Tmem208	A	G	8: 105,328,431	D91G	probably damaging	Het
Tmf1	A	G	6: 97,176,809	L101P	probably damaging	Het
Tnni1	A	G	1: 135,805,592	T51A	probably benign	Het
Tor3a	T	G	1: 156,674,193	E38A	probably damaging	Het
Trim31	T	A	17: 36,899,918	D147E	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r48	G	T	6: 90,036,147	A232E	probably benign	Het
Vmn1r89	T	G	7: 13,219,357	F7V	probably benign	Het
Zfp160	A	G	17: 21,026,852	T555A	probably benign	Het
Zfp981	C	A	4: 146,537,005	T129K	probably benign	Het
Zfpm2	T	A	15: 40,870,542	F106I	probably benign	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
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
R7077:Ola1	UTSW	2	73141964	missense	probably damaging	1.00
R8223:Ola1	UTSW	2	73099350	missense	probably damaging	1.00
R8343:Ola1	UTSW	2	73199401	missense	probably damaging	0.99
R9031:Ola1	UTSW	2	73093716	missense	probably benign	0.16
R9258:Ola1	UTSW	2	73099388	missense	probably damaging	0.96
R9641:Ola1	UTSW	2	73203440	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCTGCCTCAATCAATGCCG -3'
(R):5'- CCAGTGTGCTGTGAAAGATGAATG -3'

Sequencing Primer
(F):5'- AATCAATGCCGCTCCACTTTCAC -3'
(R):5'- GCTGTGAAAGATGAATGGTCATTTAC -3'

Posted On

2016-08-04