Incidental Mutation 'R0831:Afg3l2'
ID |
77589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
039010-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0831 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 67554297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 468
(F468L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: F468L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: F468L
Domain | Start | End | E-Value | Type |
low complexity region
|
95 |
121 |
N/A |
INTRINSIC |
Pfam:FtsH_ext
|
144 |
241 |
8.8e-12 |
PFAM |
transmembrane domain
|
251 |
270 |
N/A |
INTRINSIC |
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
AAA
|
339 |
478 |
1.37e-23 |
SMART |
Pfam:Peptidase_M41
|
540 |
743 |
4e-77 |
PFAM |
low complexity region
|
780 |
794 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.0%
|
Validation Efficiency |
95% (82/86) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [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 |
2900092C05Rik |
C |
T |
7: 12,284,523 (GRCm39) |
|
probably benign |
Het |
3425401B19Rik |
T |
C |
14: 32,384,228 (GRCm39) |
N579S |
probably benign |
Het |
Adck1 |
G |
T |
12: 88,335,118 (GRCm39) |
M1I |
probably null |
Het |
Adgra3 |
A |
T |
5: 50,128,144 (GRCm39) |
I779N |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,605,502 (GRCm39) |
I2384N |
probably benign |
Het |
Ankrd13b |
A |
T |
11: 77,363,585 (GRCm39) |
S244R |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,378,842 (GRCm39) |
H1030Q |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,973,092 (GRCm39) |
|
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,098,332 (GRCm39) |
S187P |
probably damaging |
Het |
B4galt4 |
G |
T |
16: 38,588,341 (GRCm39) |
E57D |
probably benign |
Het |
Cad |
T |
C |
5: 31,224,944 (GRCm39) |
V949A |
probably damaging |
Het |
Cadps2 |
C |
T |
6: 23,321,739 (GRCm39) |
S1051N |
possibly damaging |
Het |
Ccdc66 |
C |
T |
14: 27,219,313 (GRCm39) |
V148I |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,400,045 (GRCm39) |
P55S |
probably damaging |
Het |
Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
Cep95 |
A |
G |
11: 106,705,530 (GRCm39) |
D548G |
probably benign |
Het |
Chil3 |
A |
G |
3: 106,057,063 (GRCm39) |
Y294H |
probably benign |
Het |
Chmp5 |
A |
G |
4: 40,949,500 (GRCm39) |
D39G |
probably damaging |
Het |
Chrd |
T |
A |
16: 20,560,059 (GRCm39) |
F887I |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,034,520 (GRCm39) |
G580V |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,439,939 (GRCm39) |
N655K |
probably damaging |
Het |
Ctsf |
A |
T |
19: 4,909,868 (GRCm39) |
Y416F |
possibly damaging |
Het |
Dennd5a |
A |
C |
7: 109,533,961 (GRCm39) |
V77G |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,795,108 (GRCm39) |
K460* |
probably null |
Het |
Dnah17 |
A |
T |
11: 117,951,097 (GRCm39) |
M2842K |
probably damaging |
Het |
Dnajc13 |
C |
A |
9: 104,049,811 (GRCm39) |
G1765V |
probably damaging |
Het |
Donson |
A |
C |
16: 91,480,651 (GRCm39) |
C243W |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,985,961 (GRCm39) |
N817I |
possibly damaging |
Het |
Eef1d |
G |
A |
15: 75,768,655 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 140,010,279 (GRCm39) |
D19V |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gm9867 |
C |
A |
4: 140,049,799 (GRCm39) |
A128S |
unknown |
Het |
Igsf23 |
G |
T |
7: 19,675,662 (GRCm39) |
|
probably benign |
Het |
Inhca |
T |
C |
9: 103,146,978 (GRCm39) |
H292R |
possibly damaging |
Het |
Kdm7a |
C |
A |
6: 39,143,699 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,453,609 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,537,990 (GRCm39) |
N1229D |
possibly damaging |
Het |
Mrps11 |
C |
A |
7: 78,441,611 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,707,409 (GRCm39) |
D248E |
probably damaging |
Het |
Myrfl |
C |
A |
10: 116,619,114 (GRCm39) |
S748I |
probably benign |
Het |
Nop14 |
T |
C |
5: 34,807,864 (GRCm39) |
E366G |
possibly damaging |
Het |
Or13c3 |
T |
G |
4: 52,855,764 (GRCm39) |
I250L |
possibly damaging |
Het |
Or2w25 |
C |
T |
11: 59,504,480 (GRCm39) |
T230I |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,247,338 (GRCm39) |
I272V |
probably benign |
Het |
Or7e177 |
T |
A |
9: 20,211,861 (GRCm39) |
C123S |
probably benign |
Het |
Or8g2b |
C |
T |
9: 39,751,579 (GRCm39) |
P283L |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,476,366 (GRCm39) |
E29* |
probably null |
Het |
Plppr4 |
A |
G |
3: 117,125,295 (GRCm39) |
|
probably null |
Het |
Prmt2 |
A |
C |
10: 76,043,641 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
A |
7: 30,193,649 (GRCm39) |
Y114* |
probably null |
Het |
Prr23a2 |
C |
A |
9: 98,738,917 (GRCm39) |
H92N |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rdx |
C |
A |
9: 51,977,117 (GRCm39) |
A122E |
probably damaging |
Het |
Rspo3 |
T |
G |
10: 29,330,253 (GRCm39) |
D236A |
unknown |
Het |
Sdk2 |
A |
T |
11: 113,723,084 (GRCm39) |
D1302E |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,710,382 (GRCm39) |
D209E |
probably damaging |
Het |
Sirpa |
T |
G |
2: 129,469,856 (GRCm39) |
|
probably benign |
Het |
Ska1 |
A |
C |
18: 74,330,570 (GRCm39) |
|
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,668,331 (GRCm39) |
|
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,631,172 (GRCm39) |
V602A |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,959,533 (GRCm39) |
V543A |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,682,433 (GRCm39) |
L489F |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,982,365 (GRCm39) |
|
probably benign |
Het |
Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
Spindoc |
G |
T |
19: 7,352,100 (GRCm39) |
N82K |
probably benign |
Het |
Stk17b |
C |
A |
1: 53,796,651 (GRCm39) |
C372F |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,428,052 (GRCm39) |
|
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,963,267 (GRCm39) |
T127I |
probably benign |
Het |
Togaram2 |
G |
T |
17: 72,023,439 (GRCm39) |
R765L |
probably damaging |
Het |
Tprg1 |
A |
G |
16: 25,136,219 (GRCm39) |
Y70C |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,215,325 (GRCm39) |
Y1050H |
probably damaging |
Het |
Vmn1r205 |
T |
A |
13: 22,776,586 (GRCm39) |
D172V |
probably benign |
Het |
Vmn1r79 |
A |
T |
7: 11,910,990 (GRCm39) |
N291Y |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,833,980 (GRCm39) |
N549K |
probably damaging |
Het |
Vrk3 |
T |
A |
7: 44,414,227 (GRCm39) |
L241Q |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,969,744 (GRCm39) |
S386P |
probably damaging |
Het |
|
Other mutations in Afg3l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00962:Afg3l2
|
APN |
18 |
67,564,723 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01395:Afg3l2
|
APN |
18 |
67,575,880 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01533:Afg3l2
|
APN |
18 |
67,538,488 (GRCm39) |
nonsense |
probably null |
|
IGL01814:Afg3l2
|
APN |
18 |
67,538,544 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01868:Afg3l2
|
APN |
18 |
67,547,218 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02399:Afg3l2
|
APN |
18 |
67,562,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02827:Afg3l2
|
APN |
18 |
67,559,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Afg3l2
|
APN |
18 |
67,540,390 (GRCm39) |
missense |
probably benign |
|
IGL03392:Afg3l2
|
APN |
18 |
67,547,139 (GRCm39) |
splice site |
probably benign |
|
radicle
|
UTSW |
18 |
67,556,023 (GRCm39) |
missense |
probably damaging |
1.00 |
rootlet
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R0057:Afg3l2
|
UTSW |
18 |
67,556,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0107:Afg3l2
|
UTSW |
18 |
67,564,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Afg3l2
|
UTSW |
18 |
67,548,627 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0899:Afg3l2
|
UTSW |
18 |
67,556,047 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0962:Afg3l2
|
UTSW |
18 |
67,538,497 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1672:Afg3l2
|
UTSW |
18 |
67,540,493 (GRCm39) |
missense |
probably benign |
0.31 |
R1815:Afg3l2
|
UTSW |
18 |
67,548,643 (GRCm39) |
nonsense |
probably null |
|
R1838:Afg3l2
|
UTSW |
18 |
67,547,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R2013:Afg3l2
|
UTSW |
18 |
67,564,842 (GRCm39) |
missense |
probably damaging |
0.99 |
R2383:Afg3l2
|
UTSW |
18 |
67,556,026 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2906:Afg3l2
|
UTSW |
18 |
67,573,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R4763:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5193:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5196:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5197:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5257:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5397:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Afg3l2
|
UTSW |
18 |
67,573,277 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5605:Afg3l2
|
UTSW |
18 |
67,575,425 (GRCm39) |
nonsense |
probably null |
|
R5696:Afg3l2
|
UTSW |
18 |
67,540,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Afg3l2
|
UTSW |
18 |
67,573,269 (GRCm39) |
missense |
probably benign |
0.44 |
R5779:Afg3l2
|
UTSW |
18 |
67,573,513 (GRCm39) |
missense |
probably null |
0.12 |
R5972:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5973:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5974:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5979:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5994:Afg3l2
|
UTSW |
18 |
67,562,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R6026:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6027:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6075:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6077:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6081:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6131:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6132:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6134:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6152:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6154:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Afg3l2
|
UTSW |
18 |
67,542,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6187:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:Afg3l2
|
UTSW |
18 |
67,554,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6718:Afg3l2
|
UTSW |
18 |
67,554,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Afg3l2
|
UTSW |
18 |
67,556,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Afg3l2
|
UTSW |
18 |
67,581,986 (GRCm39) |
missense |
probably benign |
0.05 |
R8531:Afg3l2
|
UTSW |
18 |
67,540,439 (GRCm39) |
missense |
probably damaging |
0.99 |
R9017:Afg3l2
|
UTSW |
18 |
67,542,550 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9220:Afg3l2
|
UTSW |
18 |
67,562,266 (GRCm39) |
missense |
probably benign |
|
R9222:Afg3l2
|
UTSW |
18 |
67,567,257 (GRCm39) |
missense |
probably benign |
0.05 |
R9371:Afg3l2
|
UTSW |
18 |
67,567,262 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9381:Afg3l2
|
UTSW |
18 |
67,575,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Afg3l2
|
UTSW |
18 |
67,554,365 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Afg3l2
|
UTSW |
18 |
67,564,777 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAAACCCTGGAGTTAAGGACGC -3'
(R):5'- GGCTTTGTGATACCCTTCTACTGGC -3'
Sequencing Primer
(F):5'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- GGCAGCCAATCTTGTTTTCAG -3'
|
Posted On |
2013-10-16 |