Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Opa1'

60550

Institutional Source

Beutler Lab

Gene Symbol

Opa1

Ensembl Gene

ENSMUSG00000038084

Gene Name

OPA1, mitochondrial dynamin like GTPase

Synonyms

optic atrophy 1, lilr3, 1200011N24Rik

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0114 (G1)

Quality Score

126

Status

Validated (trace)

Chromosome

Chromosomal Location

29398152-29473702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29448453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 912 (N912Y)

Ref Sequence

ENSEMBL: ENSMUSP00000123880 (fasta)

Gene Model

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

AlphaFold

P58281

Predicted Effect

probably benign
Transcript: ENSMUST00000038867
AA Change: N893Y

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: N893Y

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: 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
AA Change: N875Y

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: N875Y

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
AA Change: N912Y

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: N912Y

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

Meta Mutation Damage Score

0.1495

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	Het

Other mutations in Opa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Opa1	APN	16	29,436,933 (GRCm39)	splice site	probably benign
IGL01087:Opa1	APN	16	29,405,815 (GRCm39)	missense	probably damaging	1.00
IGL01799:Opa1	APN	16	29,435,476 (GRCm39)	missense	possibly damaging	0.61
IGL01927:Opa1	APN	16	29,405,813 (GRCm39)	missense	probably benign	0.35
IGL02067:Opa1	APN	16	29,435,473 (GRCm39)	missense	probably damaging	1.00
IGL02317:Opa1	APN	16	29,433,984 (GRCm39)	critical splice donor site	probably null
IGL02567:Opa1	APN	16	29,407,104 (GRCm39)	missense	probably benign	0.01
IGL02826:Opa1	APN	16	29,429,705 (GRCm39)	missense	probably null
Longshanks	UTSW	16	29,437,077 (GRCm39)	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29,433,887 (GRCm39)	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29,433,887 (GRCm39)	missense	probably damaging	1.00
R0092:Opa1	UTSW	16	29,444,412 (GRCm39)	missense	probably damaging	0.99
R0200:Opa1	UTSW	16	29,432,947 (GRCm39)	missense	probably benign	0.08
R0308:Opa1	UTSW	16	29,440,349 (GRCm39)	missense	probably damaging	0.98
R0427:Opa1	UTSW	16	29,430,279 (GRCm39)	missense	probably damaging	0.98
R0671:Opa1	UTSW	16	29,421,025 (GRCm39)	splice site	probably benign
R1768:Opa1	UTSW	16	29,439,628 (GRCm39)	missense	probably benign
R1889:Opa1	UTSW	16	29,444,403 (GRCm39)	missense	possibly damaging	0.67
R3932:Opa1	UTSW	16	29,429,698 (GRCm39)	missense	probably damaging	1.00
R3933:Opa1	UTSW	16	29,429,698 (GRCm39)	missense	probably damaging	1.00
R4434:Opa1	UTSW	16	29,430,801 (GRCm39)	missense	probably damaging	1.00
R4618:Opa1	UTSW	16	29,405,857 (GRCm39)	missense	probably damaging	1.00
R4926:Opa1	UTSW	16	29,467,791 (GRCm39)	missense	possibly damaging	0.94
R5163:Opa1	UTSW	16	29,416,438 (GRCm39)	missense	probably damaging	0.99
R5249:Opa1	UTSW	16	29,437,077 (GRCm39)	missense	probably damaging	1.00
R5266:Opa1	UTSW	16	29,436,948 (GRCm39)	missense	probably benign	0.19
R5275:Opa1	UTSW	16	29,430,397 (GRCm39)	missense	probably damaging	1.00
R5372:Opa1	UTSW	16	29,404,937 (GRCm39)	missense	probably benign	0.00
R5990:Opa1	UTSW	16	29,405,836 (GRCm39)	missense	probably damaging	0.99
R6054:Opa1	UTSW	16	29,433,952 (GRCm39)	missense	probably damaging	1.00
R6483:Opa1	UTSW	16	29,447,525 (GRCm39)	missense	possibly damaging	0.72
R6522:Opa1	UTSW	16	29,444,332 (GRCm39)	missense	probably benign	0.06
R6889:Opa1	UTSW	16	29,439,686 (GRCm39)	missense	probably benign	0.22
R7225:Opa1	UTSW	16	29,432,857 (GRCm39)	splice site	probably null
R7243:Opa1	UTSW	16	29,405,814 (GRCm39)	missense	probably benign	0.01
R7324:Opa1	UTSW	16	29,405,799 (GRCm39)	missense	probably benign
R7831:Opa1	UTSW	16	29,467,755 (GRCm39)	missense	probably benign	0.02
R8304:Opa1	UTSW	16	29,416,489 (GRCm39)	missense	possibly damaging	0.80
R8317:Opa1	UTSW	16	29,432,962 (GRCm39)	missense	probably damaging	1.00
R8353:Opa1	UTSW	16	29,439,686 (GRCm39)	missense	probably damaging	0.99
R8453:Opa1	UTSW	16	29,439,686 (GRCm39)	missense	probably damaging	0.99
R8795:Opa1	UTSW	16	29,448,450 (GRCm39)	missense	probably damaging	1.00
R8919:Opa1	UTSW	16	29,424,340 (GRCm39)	missense	probably damaging	1.00
R9053:Opa1	UTSW	16	29,404,836 (GRCm39)	nonsense	probably null
R9087:Opa1	UTSW	16	29,437,053 (GRCm39)	missense	probably damaging	1.00
R9172:Opa1	UTSW	16	29,439,232 (GRCm39)	missense	probably benign	0.01
R9355:Opa1	UTSW	16	29,432,807 (GRCm39)	missense	probably damaging	1.00
R9434:Opa1	UTSW	16	29,404,874 (GRCm39)	missense	probably benign	0.01
R9511:Opa1	UTSW	16	29,429,738 (GRCm39)	missense	probably damaging	1.00
R9612:Opa1	UTSW	16	29,430,255 (GRCm39)	missense
R9784:Opa1	UTSW	16	29,437,029 (GRCm39)	nonsense	probably null
RF012:Opa1	UTSW	16	29,432,784 (GRCm39)	missense	probably damaging	1.00
T0722:Opa1	UTSW	16	29,429,748 (GRCm39)	critical splice donor site	probably null
X0065:Opa1	UTSW	16	29,439,602 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GGTGGCAGCAGACTTATGTCTTTTGAC -3'
(R):5'- ACGTGTTCTCAAGCCATAACAGACAG -3'

Sequencing Primer
(F):5'- TAGCCCTTGAAAAGCTCTGC -3'
(R):5'- CACCAAGTAGTGCTCAGGACG -3'

Posted On

2013-07-24