Incidental Mutation 'IGL02317:Opa1'
ID 288091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Opa1
Ensembl Gene ENSMUSG00000038084
Gene Name OPA1, mitochondrial dynamin like GTPase
Synonyms optic atrophy 1, lilr3, 1200011N24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02317
Quality Score
Status
Chromosome 16
Chromosomal Location 29398152-29473702 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 29433984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]
AlphaFold P58281
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: 96,013,780 (GRCm39) noncoding transcript Het
Aadacl2fm3 A G 3: 59,784,408 (GRCm39) N294D probably benign Het
Aak1 C T 6: 86,933,282 (GRCm39) P418S possibly damaging Het
Abca5 T A 11: 110,218,587 (GRCm39) Q93L probably benign Het
Arhgap22 G T 14: 33,081,230 (GRCm39) V209L probably damaging Het
Atp6v1h G T 1: 5,154,693 (GRCm39) R7L possibly damaging Het
Ccdc86 T C 19: 10,920,556 (GRCm39) Q420R possibly damaging Het
Cep85 C T 4: 133,883,122 (GRCm39) G256R probably damaging Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Dck T C 5: 88,921,942 (GRCm39) Y135H probably damaging Het
Dicer1 T C 12: 104,663,279 (GRCm39) E1434G probably damaging Het
Dst C T 1: 34,334,244 (GRCm39) T4824I probably damaging Het
Fam20c G A 5: 138,792,115 (GRCm39) R404H probably damaging Het
Fat1 G A 8: 45,478,855 (GRCm39) A2611T probably benign Het
Fbxl13 C T 5: 21,727,232 (GRCm39) C555Y probably benign Het
Gprc6a C A 10: 51,497,049 (GRCm39) R323L probably benign Het
Grik2 A G 10: 49,298,711 (GRCm39) F50L probably benign Het
Ibsp A G 5: 104,450,332 (GRCm39) Y50C probably damaging Het
Il16 T A 7: 83,316,097 (GRCm39) H437L probably damaging Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Jph1 T C 1: 17,074,147 (GRCm39) T624A probably benign Het
Lama5 T C 2: 179,833,112 (GRCm39) Y1574C probably damaging Het
Lrrc26 A G 2: 25,180,314 (GRCm39) N105S probably damaging Het
Megf8 C A 7: 25,063,213 (GRCm39) T2523K probably damaging Het
Nckap1l A G 15: 103,370,005 (GRCm39) I135V probably benign Het
Oma1 A G 4: 103,176,234 (GRCm39) probably benign Het
Or13j1 T C 4: 43,706,172 (GRCm39) Y132C probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rab11b C T 17: 33,968,790 (GRCm39) A43T probably damaging Het
Rabl2 A T 15: 89,468,492 (GRCm39) N133K probably damaging Het
Scn10a C T 9: 119,467,621 (GRCm39) V840I probably benign Het
Spata31d1b T C 13: 59,865,854 (GRCm39) S1001P probably damaging Het
Tbc1d8 T C 1: 39,415,985 (GRCm39) E896G probably benign Het
Ube2o T C 11: 116,432,389 (GRCm39) E859G probably damaging Het
Vmn1r197 A G 13: 22,512,073 (GRCm39) probably benign Het
Vmn2r58 A G 7: 41,486,765 (GRCm39) I710T possibly damaging Het
Zmynd8 T C 2: 165,662,492 (GRCm39) T533A possibly damaging Het
Other mutations in Opa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16