Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Ola1'

483828

Institutional Source

Beutler Lab

Gene Symbol

Ola1

Ensembl Gene

ENSMUSG00000027108

Gene Name

Obg-like ATPase 1

Synonyms

Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72923145-73044791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73029842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 92 (D92E)

Ref Sequence

ENSEMBL: ENSMUSP00000107686 (fasta)

Gene Model

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

AlphaFold

Q9CZ30

Predicted Effect

probably damaging
Transcript: ENSMUST00000028517
AA Change: D92E

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

SMART Domains

Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: D92E

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: D92E

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

SMART Domains

Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: D92E

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: D92E

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

SMART Domains

Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: D92E

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: ENSMUST00000136684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152608

Meta Mutation Damage Score

0.9440

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly 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
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'- ATGCACTTGCTATTCAGGAACC -3'
(R):5'- CATTTGAAGGCACCTGTGGG -3'

Sequencing Primer
(F):5'- GCACTTGCTATTCAGGAACCTTATGG -3'
(R):5'- TGAGCTGTGACACATGCAC -3'

Posted On

2017-07-14