Incidental Mutation 'R6033:Afg3l2'
ID |
480538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044205-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6033 (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: 99.9%
- 3x: 99.5%
- 10x: 96.9%
- 20x: 89.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
Psmd1 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
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 |
|
Posted On |
2017-06-26 |