Incidental Mutation 'IGL02317:Opa1'
ID288091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Opa1
Ensembl Gene ENSMUSG00000038084
Gene NameOPA1, mitochondrial dynamin like GTPase
Synonyms1200011N24Rik, lilr3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02317
Quality Score
Status
Chromosome16
Chromosomal Location29579334-29654884 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 29615166 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]
Predicted Effect probably null
Transcript: ENSMUST00000038867
SMART Domains Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
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: ENSMUST00000160101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160153
Predicted Effect probably benign
Transcript: ENSMUST00000160475
SMART Domains Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000160597
SMART Domains Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000161186
SMART Domains Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,006 noncoding transcript Het
Aak1 C T 6: 86,956,300 P418S possibly damaging Het
Abca5 T A 11: 110,327,761 Q93L probably benign Het
Arhgap22 G T 14: 33,359,273 V209L probably damaging Het
Atp6v1h G T 1: 5,084,470 R7L possibly damaging Het
Ccdc86 T C 19: 10,943,192 Q420R possibly damaging Het
Cep85 C T 4: 134,155,811 G256R probably damaging Het
Csmd2 T C 4: 128,463,727 probably benign Het
Dck T C 5: 88,774,083 Y135H probably damaging Het
Dicer1 T C 12: 104,697,020 E1434G probably damaging Het
Dst C T 1: 34,295,163 T4824I probably damaging Het
Fam20c G A 5: 138,806,360 R404H probably damaging Het
Fat1 G A 8: 45,025,818 A2611T probably benign Het
Fbxl13 C T 5: 21,522,234 C555Y probably benign Het
Gm8298 A G 3: 59,876,987 N294D probably benign Het
Gprc6a C A 10: 51,620,953 R323L probably benign Het
Grik2 A G 10: 49,422,615 F50L probably benign Het
Ibsp A G 5: 104,302,466 Y50C probably damaging Het
Il16 T A 7: 83,666,889 H437L probably damaging Het
Irf9 G A 14: 55,607,739 R352H probably damaging Het
Jph1 T C 1: 17,003,923 T624A probably benign Het
Lama5 T C 2: 180,191,319 Y1574C probably damaging Het
Lrrc26 A G 2: 25,290,302 N105S probably damaging Het
Megf8 C A 7: 25,363,788 T2523K probably damaging Het
Nckap1l A G 15: 103,461,578 I135V probably benign Het
Olfr1033 T C 2: 86,041,569 S85P probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr71 T C 4: 43,706,172 Y132C probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Oma1 A G 4: 103,319,037 probably benign Het
Rab11b C T 17: 33,749,816 A43T probably damaging Het
Rabl2 A T 15: 89,584,289 N133K probably damaging Het
Scn10a C T 9: 119,638,555 V840I probably benign Het
Spata31d1b T C 13: 59,718,040 S1001P probably damaging Het
Tbc1d8 T C 1: 39,376,904 E896G probably benign Het
Ube2o T C 11: 116,541,563 E859G probably damaging Het
Vmn1r197 A G 13: 22,327,903 probably benign Het
Vmn2r58 A G 7: 41,837,341 I710T possibly damaging Het
Zmynd8 T C 2: 165,820,572 T533A possibly damaging Het
Other mutations in Opa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
R7914:Opa1 UTSW 16 29648937 missense probably benign 0.02
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 On2015-04-16