Incidental Mutation 'R6035:Afg3l2'
ID |
479191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044207-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6035 (G1)
|
Quality Score |
225.009 |
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: 99.8%
- 3x: 98.9%
- 10x: 91.8%
- 20x: 70.9%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
T |
6: 121,615,353 (GRCm39) |
G76W |
probably damaging |
Het |
Abca17 |
A |
T |
17: 24,500,219 (GRCm39) |
F1324Y |
possibly damaging |
Het |
Abca8b |
A |
T |
11: 109,862,686 (GRCm39) |
|
probably null |
Het |
Abcc12 |
A |
G |
8: 87,244,033 (GRCm39) |
M1040T |
probably damaging |
Het |
Abtb1 |
A |
G |
6: 88,818,788 (GRCm39) |
F7L |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,122,377 (GRCm39) |
T558A |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,412,292 (GRCm39) |
T424S |
possibly damaging |
Het |
Ankrd31 |
C |
A |
13: 96,968,721 (GRCm39) |
P786Q |
probably benign |
Het |
Arhgap39 |
G |
T |
15: 76,621,424 (GRCm39) |
Y392* |
probably null |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Carmil2 |
G |
T |
8: 106,419,195 (GRCm39) |
W749L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,587,564 (GRCm39) |
Y867H |
unknown |
Het |
Cdh13 |
A |
G |
8: 119,232,437 (GRCm39) |
D47G |
probably benign |
Het |
Chst9 |
T |
A |
18: 15,585,910 (GRCm39) |
T218S |
probably benign |
Het |
Clec2i |
G |
A |
6: 128,870,587 (GRCm39) |
V67I |
probably benign |
Het |
Cox7a2 |
T |
A |
9: 79,667,028 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,519,030 (GRCm39) |
|
probably null |
Het |
Cpz |
A |
G |
5: 35,674,929 (GRCm39) |
C107R |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,909,013 (GRCm39) |
C1209S |
possibly damaging |
Het |
Ddx41 |
T |
C |
13: 55,681,781 (GRCm39) |
M307V |
probably benign |
Het |
Defa24 |
A |
G |
8: 22,224,565 (GRCm39) |
I5V |
probably benign |
Het |
Dgcr8 |
A |
T |
16: 18,076,178 (GRCm39) |
N2K |
probably damaging |
Het |
Ebf2 |
A |
G |
14: 67,476,423 (GRCm39) |
D131G |
probably damaging |
Het |
Fam149b |
C |
T |
14: 20,427,985 (GRCm39) |
R424C |
probably damaging |
Het |
Fbln2 |
G |
A |
6: 91,240,335 (GRCm39) |
V714M |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,385 (GRCm39) |
Y257H |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,791,605 (GRCm39) |
V224G |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,338,450 (GRCm39) |
I394T |
possibly damaging |
Het |
Glmn |
T |
A |
5: 107,741,746 (GRCm39) |
|
probably null |
Het |
Greb1l |
T |
C |
18: 10,501,025 (GRCm39) |
I385T |
possibly damaging |
Het |
Grhl1 |
C |
A |
12: 24,658,449 (GRCm39) |
Q365K |
probably benign |
Het |
Gsdme |
G |
A |
6: 50,206,306 (GRCm39) |
T179M |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,018,962 (GRCm39) |
T349A |
probably benign |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Il5ra |
G |
A |
6: 106,718,226 (GRCm39) |
T76I |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnh6 |
G |
A |
11: 105,909,978 (GRCm39) |
|
probably null |
Het |
Krt26 |
C |
T |
11: 99,224,415 (GRCm39) |
E368K |
probably benign |
Het |
Lhx9 |
T |
C |
1: 138,766,281 (GRCm39) |
D169G |
possibly damaging |
Het |
Lmod3 |
A |
G |
6: 97,224,234 (GRCm39) |
L529P |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,158,390 (GRCm39) |
V146M |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,173,577 (GRCm39) |
T891A |
probably benign |
Het |
Or11g24 |
A |
G |
14: 50,661,984 (GRCm39) |
T3A |
probably benign |
Het |
Or1e1 |
T |
C |
11: 73,244,582 (GRCm39) |
M1T |
probably null |
Het |
Or1j13 |
T |
A |
2: 36,369,996 (GRCm39) |
I49F |
probably damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,208,285 (GRCm39) |
*145R |
probably null |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
C |
12: 83,821,454 (GRCm39) |
G262A |
probably damaging |
Het |
Pdcd1lg2 |
G |
A |
19: 29,423,435 (GRCm39) |
V160I |
probably benign |
Het |
Pde8b |
A |
G |
13: 95,164,105 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
G |
A |
7: 100,004,002 (GRCm39) |
R68* |
probably null |
Het |
Ptprn2 |
A |
T |
12: 117,219,215 (GRCm39) |
N949Y |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,468 (GRCm39) |
D1115Y |
probably damaging |
Het |
Rad54l |
G |
T |
4: 115,954,666 (GRCm39) |
D674E |
probably damaging |
Het |
Ripk4 |
T |
A |
16: 97,545,387 (GRCm39) |
D420V |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,954,067 (GRCm39) |
S1857R |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,311,316 (GRCm39) |
E682G |
probably benign |
Het |
Samd4 |
G |
A |
14: 47,325,329 (GRCm39) |
R515H |
probably damaging |
Het |
Selp |
T |
A |
1: 163,969,079 (GRCm39) |
W560R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,468 (GRCm39) |
L163Q |
probably damaging |
Het |
Shh |
G |
A |
5: 28,666,397 (GRCm39) |
A163V |
probably damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,937 (GRCm39) |
R113G |
possibly damaging |
Het |
Slc5a6 |
C |
A |
5: 31,206,168 (GRCm39) |
|
probably benign |
Het |
Smarcd2 |
A |
G |
11: 106,157,715 (GRCm39) |
|
probably null |
Het |
Sytl3 |
A |
G |
17: 6,995,664 (GRCm39) |
D148G |
probably damaging |
Het |
Tnks |
G |
T |
8: 35,385,615 (GRCm39) |
H297Q |
possibly damaging |
Het |
Trbv21 |
A |
T |
6: 41,179,568 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,806,161 (GRCm39) |
F268L |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,287,541 (GRCm39) |
I209V |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,818,082 (GRCm39) |
N140S |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,919,606 (GRCm39) |
Y226C |
probably damaging |
Het |
Vmn1r129 |
T |
A |
7: 21,094,534 (GRCm39) |
Q228L |
probably damaging |
Het |
Vmn1r209 |
T |
A |
13: 22,990,202 (GRCm39) |
N163Y |
probably benign |
Het |
Vmn1r85 |
A |
G |
7: 12,818,854 (GRCm39) |
S97P |
probably damaging |
Het |
Vmn2r30 |
C |
T |
7: 7,337,350 (GRCm39) |
M95I |
probably benign |
Het |
Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
Wdr70 |
G |
A |
15: 7,916,830 (GRCm39) |
T529I |
possibly damaging |
Het |
Zfp532 |
T |
G |
18: 65,757,005 (GRCm39) |
S313A |
possibly damaging |
Het |
Zhx3 |
A |
T |
2: 160,621,463 (GRCm39) |
N901K |
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 |
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 |
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 |
|
Posted On |
2017-06-26 |