Mutagenetix > Incidental Mutations

Incidental Mutation 'R0671:Opa1'

61482

Institutional Source

Beutler Lab

Gene Symbol

Opa1

Ensembl Gene

ENSMUSG00000038084

Gene Name

OPA1, mitochondrial dynamin like GTPase

Synonyms

1200011N24Rik, lilr3

MMRRC Submission

038856-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0671 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

29579334-29654884 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 29602207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]

AlphaFold

P58281

Predicted Effect

probably benign
Transcript: ENSMUST00000038867

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
low complexity region	91	101	N/A	INTRINSIC
low complexity region	189	205	N/A	INTRINSIC
coiled coil region	228	271	N/A	INTRINSIC
DYNc	283	533	2.18e-10	SMART
coiled coil region	918	967	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160153

Predicted Effect

probably benign
Transcript: ENSMUST00000160475

SMART Domains

Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
low complexity region	91	101	N/A	INTRINSIC
low complexity region	189	205	N/A	INTRINSIC
coiled coil region	228	271	N/A	INTRINSIC
DYNc	283	533	2.18e-10	SMART
Blast:DYNc	608	632	1e-5	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160597

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
low complexity region	91	101	N/A	INTRINSIC
coiled coil region	210	253	N/A	INTRINSIC
DYNc	265	515	2.18e-10	SMART
coiled coil region	900	949	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161186

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
low complexity region	91	101	N/A	INTRINSIC
coiled coil region	207	290	N/A	INTRINSIC
DYNc	302	552	2.18e-10	SMART
coiled coil region	937	986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162240

SMART Domains

Protein: ENSMUSP00000124029
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
low complexity region	58	74	N/A	INTRINSIC
coiled coil region	93	176	N/A	INTRINSIC
Pfam:Dynamin_N	215	296	5.7e-18	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal responseto a new environment and decreased vision. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008		probably benign	Het
4930430A15Rik	A	C	2: 111,204,137	V350G	possibly damaging	Het
A530064D06Rik	G	A	17: 48,166,656	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941		probably benign	Het
Adamtsl3	A	T	7: 82,523,182	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285		probably benign	Het
Cdk12	T	C	11: 98,230,109		probably benign	Het
Clec4a3	A	G	6: 122,954,034		probably null	Het
Cpne2	T	A	8: 94,548,342		probably benign	Het
Cyfip1	T	C	7: 55,923,962		probably null	Het
Cyp26c1	A	G	19: 37,686,561	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627		probably benign	Het
Elp2	T	C	18: 24,612,442		probably benign	Het
Emilin3	A	G	2: 160,908,329	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134		probably benign	Het
Ep400	G	A	5: 110,688,196	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319	D340G	probably benign	Het
Filip1	A	T	9: 79,819,390	V649E	probably damaging	Het
Fut8	G	A	12: 77,475,017	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304		probably benign	Het
Greb1l	C	T	18: 10,474,303	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267	N452S	probably benign	Het
Hcn2	G	C	10: 79,734,232		probably null	Het
Hpn	T	C	7: 31,109,160	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,264,929	Q1702R	probably damaging	Het
Mga	A	T	2: 119,919,910		probably null	Het
Mis18a	A	T	16: 90,720,673	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394		probably benign	Het
Mrrf	C	T	2: 36,153,698	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758		probably null	Het
Ncor2	C	T	5: 125,049,387	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127	M97K	possibly damaging	Het
Pcdhb4	T	C	18: 37,307,742	M35T	probably benign	Het
Per3	T	C	4: 151,028,831	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217		probably benign	Het
Riiad1	T	C	3: 94,472,239	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293		probably null	Het
Scfd1	A	T	12: 51,412,628	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451		probably benign	Het
Sspo	G	T	6: 48,490,391		probably benign	Het
Ston2	C	T	12: 91,740,466		probably null	Het
Tas2r103	T	G	6: 133,036,350	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505		probably benign	Het
Telo2	G	A	17: 25,113,165	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157		probably benign	Het
Timp4	T	A	6: 115,249,853	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955		probably null	Het
Trim47	A	G	11: 116,108,352	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958	V27A	possibly damaging	Het
Uggt1	A	T	1: 36,155,128	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,664,735	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919	T99A	probably benign	Het

Other mutations in Opa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Opa1	APN	16	29618115	splice site	probably benign
IGL01087:Opa1	APN	16	29586997	missense	probably damaging	1.00
IGL01799:Opa1	APN	16	29616658	missense	possibly damaging	0.61
IGL01927:Opa1	APN	16	29586995	missense	probably benign	0.35
IGL02067:Opa1	APN	16	29616655	missense	probably damaging	1.00
IGL02317:Opa1	APN	16	29615166	critical splice donor site	probably null
IGL02567:Opa1	APN	16	29588286	missense	probably benign	0.01
IGL02826:Opa1	APN	16	29610887	missense	probably null
Longshanks	UTSW	16	29618259	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29615069	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29615069	missense	probably damaging	1.00
R0092:Opa1	UTSW	16	29625594	missense	probably damaging	0.99
R0114:Opa1	UTSW	16	29629635	missense	probably benign	0.35
R0200:Opa1	UTSW	16	29614129	missense	probably benign	0.08
R0308:Opa1	UTSW	16	29621531	missense	probably damaging	0.98
R0427:Opa1	UTSW	16	29611461	missense	probably damaging	0.98
R1768:Opa1	UTSW	16	29620810	missense	probably benign
R1889:Opa1	UTSW	16	29625585	missense	possibly damaging	0.67
R3932:Opa1	UTSW	16	29610880	missense	probably damaging	1.00
R3933:Opa1	UTSW	16	29610880	missense	probably damaging	1.00
R4434:Opa1	UTSW	16	29611983	missense	probably damaging	1.00
R4618:Opa1	UTSW	16	29587039	missense	probably damaging	1.00
R4926:Opa1	UTSW	16	29648973	missense	possibly damaging	0.94
R5163:Opa1	UTSW	16	29597620	missense	probably damaging	0.99
R5249:Opa1	UTSW	16	29618259	missense	probably damaging	1.00
R5266:Opa1	UTSW	16	29618130	missense	probably benign	0.19
R5275:Opa1	UTSW	16	29611579	missense	probably damaging	1.00
R5372:Opa1	UTSW	16	29586119	missense	probably benign	0.00
R5990:Opa1	UTSW	16	29587018	missense	probably damaging	0.99
R6054:Opa1	UTSW	16	29615134	missense	probably damaging	1.00
R6483:Opa1	UTSW	16	29628707	missense	possibly damaging	0.72
R6522:Opa1	UTSW	16	29625514	missense	probably benign	0.06
R6889:Opa1	UTSW	16	29620868	missense	probably benign	0.22
R7225:Opa1	UTSW	16	29614039	splice site	probably null
R7243:Opa1	UTSW	16	29586996	missense	probably benign	0.01
R7324:Opa1	UTSW	16	29586981	missense	probably benign
R7831:Opa1	UTSW	16	29648937	missense	probably benign	0.02
R8304:Opa1	UTSW	16	29597671	missense	possibly damaging	0.80
R8317:Opa1	UTSW	16	29614144	missense	probably damaging	1.00
R8353:Opa1	UTSW	16	29620868	missense	probably damaging	0.99
R8453:Opa1	UTSW	16	29620868	missense	probably damaging	0.99
R8795:Opa1	UTSW	16	29629632	missense	probably damaging	1.00
R8919:Opa1	UTSW	16	29605522	missense	probably damaging	1.00
R9053:Opa1	UTSW	16	29586018	nonsense	probably null
R9087:Opa1	UTSW	16	29618235	missense	probably damaging	1.00
R9172:Opa1	UTSW	16	29620414	missense	probably benign	0.01
R9355:Opa1	UTSW	16	29613989	missense	probably damaging	1.00
R9434:Opa1	UTSW	16	29586056	missense	probably benign	0.01
RF012:Opa1	UTSW	16	29613966	missense	probably damaging	1.00
T0722:Opa1	UTSW	16	29610930	critical splice donor site	probably null
X0065:Opa1	UTSW	16	29620784	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AAGCCCAGATAGTCATCTCCACTGC -3'
(R):5'- TGCTCTGCCGGAAAAGGAACACAC -3'

Sequencing Primer
(F):5'- CAGGACAATGACTCCTTAATGCTTC -3'
(R):5'- CTGTCTCCATCCCTAGAGAAGTTG -3'

Posted On

2013-07-30