Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Ola1'

461446

Institutional Source

Beutler Lab

Gene Symbol

Ola1

Ensembl Gene

ENSMUSG00000027108

Gene Name

Obg-like ATPase 1

Synonyms

Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R5918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72923145-73044791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72987128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 168 (E168G)

Ref Sequence

ENSEMBL: ENSMUSP00000107686 (fasta)

Gene Model

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

AlphaFold

Q9CZ30

Predicted Effect

probably benign
Transcript: ENSMUST00000028517
AA Change: E168G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: E168G

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: ENSMUST00000100015
AA Change: E168G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: E168G

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 benign
Transcript: ENSMUST00000112055
AA Change: E168G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: E168G

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

0.2183

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
R6062:Ola1	UTSW	2	73,029,842 (GRCm39)	missense	probably damaging	1.00
R6858:Ola1	UTSW	2	72,927,574 (GRCm39)	missense	probably damaging	0.97
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'- AGTAAAGGCCTGCTTACAACAG -3'
(R):5'- ATGTCTGAAAGTCCTCCACTCTG -3'

Sequencing Primer
(F):5'- GGCCTGCTTACAACAGAAATAC -3'
(R):5'- GAAAGTCCTCCACTCTGTTACTGTG -3'

Posted On

2017-02-28