Incidental Mutation 'R4765:Afg3l2'
| ID |
366104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
042406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67554329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 458
(L458M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: L458M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: L458M
| 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 |
0.3865 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,987 (GRCm39) |
R490C |
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,076,211 (GRCm39) |
F1166I |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,223,552 (GRCm39) |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,255,038 (GRCm39) |
I6195T |
probably damaging |
Het |
| Ankfy1 |
T |
G |
11: 72,603,117 (GRCm39) |
S49A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,890,539 (GRCm39) |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,746 (GRCm39) |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,423 (GRCm39) |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,364 (GRCm39) |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,582 (GRCm39) |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,787,002 (GRCm39) |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,771,480 (GRCm39) |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,808,164 (GRCm39) |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,963,699 (GRCm39) |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,388 (GRCm39) |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,044,441 (GRCm39) |
R1536S |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,094,979 (GRCm39) |
D752A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,818,552 (GRCm39) |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,506,075 (GRCm39) |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,200,280 (GRCm39) |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,720,631 (GRCm39) |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,883,048 (GRCm39) |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,739,068 (GRCm39) |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,013 (GRCm39) |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,699,693 (GRCm39) |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,795,381 (GRCm39) |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 (GRCm39) |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,625,554 (GRCm39) |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,107 (GRCm39) |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,187 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,765,260 (GRCm39) |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,990,405 (GRCm39) |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,126 (GRCm39) |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 77,065,239 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,498,191 (GRCm39) |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,711,592 (GRCm39) |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,321,543 (GRCm39) |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,420,866 (GRCm39) |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 81,996,686 (GRCm39) |
I946F |
possibly damaging |
Het |
| Mrtfb |
C |
A |
16: 13,230,458 (GRCm39) |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 32,094,953 (GRCm39) |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,639,387 (GRCm39) |
|
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,440 (GRCm39) |
C113R |
possibly damaging |
Het |
| Pcdhgc5 |
T |
C |
18: 37,955,122 (GRCm39) |
S799P |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,756,457 (GRCm39) |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,268,826 (GRCm39) |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,250,488 (GRCm39) |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,938,352 (GRCm39) |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,495,160 (GRCm39) |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,185,690 (GRCm39) |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,976,734 (GRCm39) |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,004,087 (GRCm39) |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,332,558 (GRCm39) |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 (GRCm38) |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,195,427 (GRCm39) |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,351,453 (GRCm39) |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,676,211 (GRCm39) |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,407,716 (GRCm39) |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,503,799 (GRCm39) |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,862 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,023,447 (GRCm39) |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,633,753 (GRCm39) |
I1284V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,851 (GRCm39) |
Y16711C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,331 (GRCm39) |
L33885P |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,456,075 (GRCm39) |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,923 (GRCm39) |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,470 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,217,947 (GRCm39) |
V465A |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,471 (GRCm39) |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,182 (GRCm39) |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,555,775 (GRCm39) |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,465,212 (GRCm39) |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,594 (GRCm39) |
M259L |
probably benign |
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 |
|
R0831:Afg3l2
|
UTSW |
18 |
67,554,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation