Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Opa1'

298859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Opa1

Ensembl Gene

ENSMUSG00000038084

Gene Name

OPA1, mitochondrial dynamin like GTPase

Synonyms

1200011N24Rik, lilr3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

29579334-29654884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29588286 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 29 (D29E)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038867
AA Change: D161E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: D161E

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
AA Change: D161E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084
AA Change: D161E

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: D161E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: D161E

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: D161E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: D161E

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
AA Change: D29E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124029
Gene: ENSMUSG00000038084
AA Change: D29E

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

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	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
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
R0671:Opa1	UTSW	16	29602207	splice site	probably benign
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
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

Posted On

2015-04-16