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

Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R5352 (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 72929674 bp (GRCm39)

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: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,224,905 (GRCm39)	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Nup210	A	T	6: 91,046,298 (GRCm39)	V545E	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Snx2	A	G	18: 53,330,997 (GRCm39)		probably null	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmem208	A	G	8: 106,055,063 (GRCm39)	D91G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Tor3a	T	G	1: 156,501,763 (GRCm39)	E38A	probably damaging	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	probably benign	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
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
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'- ACCTGCCTCAATCAATGCCG -3'
(R):5'- CCAGTGTGCTGTGAAAGATGAATG -3'

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

Posted On

2016-08-04