Incidental Mutation 'R0427:Opa1'
| ID |
38784 |
| 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 |
038629-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0427 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29398152-29473702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29430279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 439
(V439A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038867]
[ENSMUST00000160475]
[ENSMUST00000160597]
[ENSMUST00000161186]
|
| AlphaFold |
P58281 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038867
AA Change: V420A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: V420A
| 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 damaging
Transcript: ENSMUST00000160475
AA Change: V420A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084
AA Change: V420A
| 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 damaging
Transcript: ENSMUST00000160597
AA Change: V402A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: V402A
| 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 damaging
Transcript: ENSMUST00000161186
AA Change: V439A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: V439A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124029
Gene: ENSMUSG00000038084
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,720 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
| BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
| Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
| Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
| Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,034 (GRCm39) |
Y698* |
probably null |
Het |
| Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,185,647 (GRCm39) |
S620R |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
| Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
| Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
| Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
| Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
| Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
| Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
| Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,891 (GRCm39) |
L1143P |
possibly damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
| Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
| Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
| Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,620,432 (GRCm39) |
V691A |
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
| Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGCAATTCATTTCAGCCAAG -3'
(R):5'- TTGGATGCACAGGATGATGGCG -3'
Sequencing Primer
(F):5'- gcagaatctcacttttcagcc -3'
(R):5'- CACAGGATGATGGCGTTAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation