Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Opa1'

209858

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

039910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29398152-29473702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29444403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 863 (V863A)

Ref Sequence

ENSEMBL: ENSMUSP00000123880 (fasta)

Gene Model

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

AlphaFold

P58281

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038867
AA Change: V844A

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: V844A

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: V826A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: V826A

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

possibly damaging
Transcript: ENSMUST00000161186
AA Change: V863A

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: V863A

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

0.1043

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,034,815 (GRCm39)		noncoding transcript	Het
9130008F23Rik	T	C	17: 41,191,193 (GRCm39)	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607 (GRCm39)		probably null	Het
Acp6	C	T	3: 97,073,201 (GRCm39)	R81W	probably damaging	Het
Agbl1	A	C	7: 76,239,129 (GRCm39)	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,571,539 (GRCm39)	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,338,886 (GRCm39)	M532L	probably damaging	Het
Appl1	A	G	14: 26,647,470 (GRCm39)		probably benign	Het
Arhgef19	T	C	4: 140,976,624 (GRCm39)	F462S	probably damaging	Het
Astn1	A	G	1: 158,332,886 (GRCm39)		probably null	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cadm2	T	C	16: 66,679,683 (GRCm39)	D50G	probably damaging	Het
Ccdc81	G	A	7: 89,531,502 (GRCm39)	Q324*	probably null	Het
Cd300lf	A	G	11: 115,011,206 (GRCm39)	V178A	probably benign	Het
Cdt1	T	C	8: 123,298,791 (GRCm39)	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,796,182 (GRCm39)	V225A	probably benign	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Cfap54	A	G	10: 92,870,572 (GRCm39)	S684P	possibly damaging	Het
Clip1	C	A	5: 123,791,559 (GRCm39)	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,191,102 (GRCm39)	E226G	probably benign	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,486,356 (GRCm39)	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,518,679 (GRCm39)	A614E	probably benign	Het
Dpm1	C	T	2: 168,059,655 (GRCm39)	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Engase	T	C	11: 118,369,759 (GRCm39)	F57S	probably damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Gkn2	T	A	6: 87,355,137 (GRCm39)	Y115*	probably null	Het
Gtdc1	A	G	2: 44,481,926 (GRCm39)	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Herc2	C	T	7: 55,839,561 (GRCm39)	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,639,060 (GRCm39)	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,211,472 (GRCm39)		probably benign	Het
Ift122	T	C	6: 115,871,382 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Itgb2	A	T	10: 77,384,457 (GRCm39)	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,730,839 (GRCm39)	I65S	probably damaging	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Kcnt2	A	T	1: 140,512,031 (GRCm39)	H995L	probably damaging	Het
Kif20b	T	C	19: 34,918,608 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,360,211 (GRCm39)	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,099,877 (GRCm39)	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,904,383 (GRCm39)	D475G	probably damaging	Het
Lcor	T	C	19: 41,547,567 (GRCm39)	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,809,179 (GRCm39)	C2463*	probably null	Het
Marchf6	T	C	15: 31,459,339 (GRCm39)	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,313,488 (GRCm39)		probably null	Het
Mtrex	T	C	13: 113,024,024 (GRCm39)	N707S	probably benign	Het
Nipal4	T	A	11: 46,041,560 (GRCm39)	I212F	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Nwd2	A	G	5: 63,965,009 (GRCm39)	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Oosp1	C	T	19: 11,645,158 (GRCm39)	V169I	possibly damaging	Het
Or5ac22	T	G	16: 59,135,326 (GRCm39)	Y148S	probably damaging	Het
Pabpc4l	A	T	3: 46,400,798 (GRCm39)	M282K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcnx3	T	C	19: 5,722,684 (GRCm39)	D1336G	probably damaging	Het
Phlpp1	T	C	1: 106,246,580 (GRCm39)	V590A	possibly damaging	Het
Rbck1	T	A	2: 152,160,276 (GRCm39)	T468S	probably damaging	Het
Ripor2	T	A	13: 24,877,870 (GRCm39)	I290N	probably damaging	Het
Rnf139	T	C	15: 58,771,346 (GRCm39)	L457P	probably damaging	Het
Rtn1	C	A	12: 72,351,184 (GRCm39)	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,534,988 (GRCm39)		probably null	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,552,668 (GRCm39)	V148A	probably damaging	Het
Shank2	C	A	7: 143,740,595 (GRCm39)	S568*	probably null	Het
Slc10a4	T	C	5: 73,169,490 (GRCm39)	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,400,550 (GRCm39)	T37A	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,461,269 (GRCm39)	D52E	probably benign	Het
Slc6a5	T	C	7: 49,601,182 (GRCm39)	M661T	probably benign	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Steap4	G	T	5: 8,025,892 (GRCm39)	R151L	probably damaging	Het
Sun5	T	A	2: 153,707,915 (GRCm39)	I107L	probably benign	Het
Tacc1	C	T	8: 25,665,269 (GRCm39)	V488M	probably damaging	Het
Tgs1	A	G	4: 3,614,928 (GRCm39)	T829A	probably benign	Het
Tnxb	A	G	17: 34,914,799 (GRCm39)	E1929G	probably damaging	Het
Tssc4	A	C	7: 142,624,292 (GRCm39)	Q200P	probably damaging	Het
Ttn	A	G	2: 76,588,876 (GRCm39)	W21398R	probably damaging	Het
Usp50	C	T	2: 126,619,818 (GRCm39)		probably null	Het
Usp9y	A	T	Y: 1,448,829 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Zfat	T	C	15: 67,973,388 (GRCm39)	T1118A	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
R0114:Opa1	UTSW	16	29,448,453 (GRCm39)	missense	probably benign	0.35
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
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'- TTTCACAAGTGCGAAGTTTGAG -3'
(R):5'- AGGATGACCTTTCAGCTCCTG -3'

Sequencing Primer
(F):5'- ACAAGTGCGAAGTTTGAGCTGTC -3'
(R):5'- AAGGGTTGCACCTGTCAC -3'

Posted On

2014-06-30