Incidental Mutation 'R0057:Afg3l2'
ID |
16255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
038351-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0057 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67556156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 392
(F392L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: F392L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: F392L
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 |
0.8396 |
Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.8%
- 10x: 82.7%
- 20x: 75.7%
|
Validation Efficiency |
89% (65/73) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,832,385 (GRCm39) |
F1309L |
possibly damaging |
Het |
Abcc6 |
C |
T |
7: 45,669,567 (GRCm39) |
A163T |
probably benign |
Het |
Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,268,724 (GRCm39) |
T1055S |
probably benign |
Het |
Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,338,529 (GRCm39) |
|
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
Celsr1 |
A |
C |
15: 85,914,963 (GRCm39) |
S1003R |
probably benign |
Het |
Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,285,136 (GRCm39) |
I505F |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
Emc8 |
A |
G |
8: 121,385,822 (GRCm39) |
|
probably benign |
Het |
Entpd6 |
A |
G |
2: 150,600,748 (GRCm39) |
K152R |
probably null |
Het |
Eps8l2 |
C |
T |
7: 140,922,884 (GRCm39) |
T49I |
probably benign |
Het |
Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
Gm12251 |
C |
A |
11: 58,283,867 (GRCm39) |
|
probably benign |
Het |
Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
Il17a |
T |
A |
1: 20,803,881 (GRCm39) |
I92N |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Irak4 |
A |
C |
15: 94,451,753 (GRCm39) |
R115S |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,038,332 (GRCm39) |
H77Y |
probably damaging |
Het |
Kcnk6 |
A |
T |
7: 28,925,088 (GRCm39) |
L176Q |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,217 (GRCm39) |
|
probably benign |
Het |
Kremen2 |
A |
C |
17: 23,962,202 (GRCm39) |
I210S |
possibly damaging |
Het |
Ldah |
T |
C |
12: 8,288,432 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
A |
T |
11: 78,862,262 (GRCm39) |
|
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mfsd4b4 |
T |
A |
10: 39,891,097 (GRCm38) |
|
probably benign |
Het |
Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,389,578 (GRCm39) |
N3411D |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,892,611 (GRCm39) |
|
probably null |
Het |
Nmbr |
A |
G |
10: 14,636,268 (GRCm39) |
N79S |
probably damaging |
Het |
Npsr1 |
A |
T |
9: 24,211,723 (GRCm39) |
I84F |
probably damaging |
Het |
Or52h1 |
G |
T |
7: 103,829,536 (GRCm39) |
H26Q |
probably benign |
Het |
Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
Or6z5 |
T |
C |
7: 6,477,679 (GRCm39) |
L190P |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
Rasal3 |
A |
G |
17: 32,610,357 (GRCm39) |
S977P |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Snrnp200 |
C |
G |
2: 127,079,827 (GRCm39) |
L1899V |
probably damaging |
Het |
Snrnp48 |
T |
A |
13: 38,400,356 (GRCm39) |
C154* |
probably null |
Het |
Tdrd6 |
G |
A |
17: 43,928,052 (GRCm39) |
|
probably benign |
Het |
Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
Tom1l1 |
G |
A |
11: 90,575,975 (GRCm39) |
|
probably benign |
Het |
Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
Tram2 |
C |
T |
1: 21,076,378 (GRCm39) |
R184Q |
probably damaging |
Het |
Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
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 |
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 |
|
Posted On |
2013-01-20 |