Incidental Mutation 'IGL01087:Opa1'
ID 52906
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 # IGL01087
Quality Score
Status
Chromosome 16
Chromosomal Location 29398152-29473702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29405815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 127 (P127S)
Ref Sequence ENSEMBL: ENSMUSP00000124739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]
AlphaFold P58281
Predicted Effect probably damaging
Transcript: ENSMUST00000038867
AA Change: P127S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: P127S

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: ENSMUST00000160153
Predicted Effect probably damaging
Transcript: ENSMUST00000160475
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084
AA Change: P127S

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 damaging
Transcript: ENSMUST00000160597
AA Change: P127S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: P127S

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 damaging
Transcript: ENSMUST00000161186
AA Change: P127S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: P127S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,139,770 (GRCm39) probably null Het
Abca6 C A 11: 110,082,476 (GRCm39) A1166S probably benign Het
Arhgdib C A 6: 136,910,622 (GRCm39) K46N probably damaging Het
Ash1l T A 3: 88,971,209 (GRCm39) V2507D probably damaging Het
B4galnt1 A T 10: 127,002,060 (GRCm39) I63F probably damaging Het
Bclaf1 A G 10: 20,201,056 (GRCm39) D394G probably damaging Het
Btbd10 T C 7: 112,915,763 (GRCm39) D442G probably damaging Het
Cd44 A T 2: 102,652,607 (GRCm39) L492H probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chsy1 T G 7: 65,821,874 (GRCm39) V703G possibly damaging Het
Clrn2 T C 5: 45,621,311 (GRCm39) probably benign Het
Crtc3 T C 7: 80,248,487 (GRCm39) probably benign Het
Cul1 A G 6: 47,485,978 (GRCm39) T342A probably benign Het
Dgki T C 6: 36,989,846 (GRCm39) D631G probably damaging Het
Eif3b T C 5: 140,426,862 (GRCm39) I706T probably damaging Het
Fam120a A G 13: 49,055,549 (GRCm39) L713P probably damaging Het
I830077J02Rik C A 3: 105,836,049 (GRCm39) probably null Het
Jmjd8 A C 17: 26,048,145 (GRCm39) probably benign Het
Kmt5a T C 5: 124,589,443 (GRCm39) probably benign Het
Krt87 C A 15: 101,329,706 (GRCm39) C486F probably benign Het
Lrp2 A T 2: 69,354,417 (GRCm39) N470K probably damaging Het
Med1 C A 11: 98,071,111 (GRCm39) D79Y probably damaging Het
Myo1d A G 11: 80,573,261 (GRCm39) S189P probably damaging Het
Myo9a T A 9: 59,697,361 (GRCm39) Y381N possibly damaging Het
Nipbl C A 15: 8,379,981 (GRCm39) S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 (GRCm38) noncoding transcript Het
Nutm2 A G 13: 50,623,665 (GRCm39) T121A probably damaging Het
Or2h1b C T 17: 37,462,332 (GRCm39) C177Y probably damaging Het
Pcdh15 A T 10: 74,178,464 (GRCm39) I574F possibly damaging Het
Pcnx1 G A 12: 82,042,113 (GRCm39) probably benign Het
Prex2 A G 1: 11,138,328 (GRCm39) T136A probably benign Het
Prph2 A G 17: 47,222,085 (GRCm39) T155A probably damaging Het
Rsl1d1 T C 16: 11,012,539 (GRCm39) K296E possibly damaging Het
Syne1 A T 10: 5,375,708 (GRCm39) I128N probably damaging Het
Tlk1 A T 2: 70,582,660 (GRCm39) N156K possibly damaging Het
Trem2 C T 17: 48,658,956 (GRCm39) T222I probably damaging Het
Trip12 A T 1: 84,735,580 (GRCm39) F872L probably damaging Het
Trrap T A 5: 144,783,349 (GRCm39) S3393T probably damaging Het
Vwa8 T A 14: 79,172,669 (GRCm39) S304T probably benign Het
Zc3h7a T C 16: 10,971,046 (GRCm39) T328A probably benign Het
Other mutations in Opa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Opa1 APN 16 29,436,933 (GRCm39) splice site probably benign
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
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 2013-06-21