Incidental Mutation 'R6169:Afg3l2'
ID |
490349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6169 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
94% (67/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
C |
A |
11: 3,888,005 (GRCm39) |
C127F |
unknown |
Het |
9930111J21Rik2 |
A |
T |
11: 48,910,088 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,918,393 (GRCm39) |
L676* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,567,378 (GRCm39) |
V5265E |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,189,141 (GRCm39) |
M2185K |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,988 (GRCm39) |
V793A |
probably damaging |
Het |
Arid2 |
T |
A |
15: 96,266,558 (GRCm39) |
N535K |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
Bbof1 |
C |
T |
12: 84,473,588 (GRCm39) |
T306I |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Ccdc60 |
C |
A |
5: 116,275,131 (GRCm39) |
A351S |
probably benign |
Het |
Cetn3 |
A |
C |
13: 81,940,097 (GRCm39) |
R44S |
probably damaging |
Het |
Cluap1 |
A |
G |
16: 3,746,425 (GRCm39) |
K262R |
possibly damaging |
Het |
Cnrip1 |
G |
A |
11: 17,004,731 (GRCm39) |
V94I |
probably null |
Het |
Cog6 |
A |
T |
3: 52,914,722 (GRCm39) |
S245T |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,622,031 (GRCm39) |
V921D |
probably damaging |
Het |
Entrep2 |
G |
A |
7: 64,409,147 (GRCm39) |
P416S |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,889,863 (GRCm39) |
K504E |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,409 (GRCm39) |
|
probably null |
Het |
Fyb2 |
T |
C |
4: 104,857,713 (GRCm39) |
V630A |
probably benign |
Het |
Gm43218 |
T |
A |
6: 70,217,606 (GRCm39) |
Y50F |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,779,402 (GRCm39) |
T507A |
probably benign |
Het |
Gucy2e |
G |
T |
11: 69,126,930 (GRCm39) |
A181E |
probably benign |
Het |
Hrnr |
C |
G |
3: 93,233,062 (GRCm39) |
S1100* |
probably null |
Het |
Htt |
T |
C |
5: 35,064,817 (GRCm39) |
V3010A |
probably damaging |
Het |
Ighv1-11 |
T |
C |
12: 114,575,918 (GRCm39) |
Y99C |
probably damaging |
Het |
Ighv1-12 |
T |
C |
12: 114,579,577 (GRCm39) |
K25E |
possibly damaging |
Het |
Il6ra |
A |
G |
3: 89,778,598 (GRCm39) |
F417S |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,885,102 (GRCm39) |
S994P |
probably damaging |
Het |
Itgbl1 |
G |
A |
14: 123,897,790 (GRCm39) |
A24T |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,346,077 (GRCm39) |
F127L |
probably damaging |
Het |
Itprid2 |
T |
G |
2: 79,475,406 (GRCm39) |
I455R |
probably damaging |
Het |
Krt86 |
A |
G |
15: 101,374,170 (GRCm39) |
Y243C |
probably damaging |
Het |
Lnx1 |
A |
T |
5: 74,838,230 (GRCm39) |
W11R |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
Mettl3 |
A |
G |
14: 52,536,214 (GRCm39) |
V210A |
possibly damaging |
Het |
Mllt1 |
T |
C |
17: 57,206,822 (GRCm39) |
T341A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,891,325 (GRCm39) |
E7069G |
unknown |
Het |
Or1e27-ps1 |
A |
T |
11: 73,556,160 (GRCm39) |
T242S |
possibly damaging |
Het |
Or52b4 |
T |
C |
7: 102,184,479 (GRCm39) |
I175T |
probably benign |
Het |
Osgep |
A |
G |
14: 51,157,209 (GRCm39) |
V11A |
possibly damaging |
Het |
Oxld1 |
G |
A |
11: 120,347,675 (GRCm39) |
A174V |
possibly damaging |
Het |
Pibf1 |
A |
T |
14: 99,350,443 (GRCm39) |
E197V |
probably null |
Het |
Pkn1 |
G |
A |
8: 84,407,835 (GRCm39) |
Q425* |
probably null |
Het |
Pramel22 |
T |
C |
4: 143,380,685 (GRCm39) |
Y446C |
probably benign |
Het |
Prss35 |
T |
C |
9: 86,637,491 (GRCm39) |
I87T |
probably benign |
Het |
Psmc3 |
T |
C |
2: 90,888,184 (GRCm39) |
F304S |
probably damaging |
Het |
Psmd11 |
T |
A |
11: 80,351,539 (GRCm39) |
M254K |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,292,385 (GRCm39) |
Y218C |
probably damaging |
Het |
Sec23b |
C |
T |
2: 144,428,894 (GRCm39) |
R701C |
probably damaging |
Het |
Slc22a21 |
A |
G |
11: 53,848,913 (GRCm39) |
S280P |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,405,044 (GRCm39) |
I212T |
possibly damaging |
Het |
Slc7a12 |
T |
C |
3: 14,562,388 (GRCm39) |
V255A |
probably damaging |
Het |
Smc3 |
T |
A |
19: 53,622,517 (GRCm39) |
N697K |
probably benign |
Het |
Snai1 |
C |
A |
2: 167,380,831 (GRCm39) |
P108Q |
probably benign |
Het |
Stim2 |
T |
G |
5: 54,276,021 (GRCm39) |
L732R |
probably damaging |
Het |
Syde1 |
A |
G |
10: 78,421,938 (GRCm39) |
L597S |
probably damaging |
Het |
Tcte1 |
T |
A |
17: 45,845,996 (GRCm39) |
M200K |
probably benign |
Het |
Tenm2 |
T |
A |
11: 36,030,517 (GRCm39) |
T761S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,262 (GRCm39) |
N261K |
probably benign |
Het |
Tlr2 |
C |
A |
3: 83,745,455 (GRCm39) |
E209D |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,022,739 (GRCm39) |
L33P |
probably damaging |
Het |
Trmt1l |
C |
A |
1: 151,304,704 (GRCm39) |
|
probably benign |
Het |
Unc45a |
A |
C |
7: 79,978,511 (GRCm39) |
S646A |
possibly damaging |
Het |
Usp37 |
A |
T |
1: 74,534,910 (GRCm39) |
I12N |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,104,382 (GRCm39) |
V335A |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,311,878 (GRCm39) |
S762T |
unknown |
Het |
Yeats2 |
A |
G |
16: 20,038,417 (GRCm39) |
K129E |
probably damaging |
Het |
Zscan4-ps2 |
T |
C |
7: 11,251,558 (GRCm39) |
V198A |
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 |
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 |
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'- GCACTGTCCAGCTTCAATGG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
Posted On |
2017-10-10 |