Incidental Mutation 'R6027:Afg3l2'
ID |
480140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044199-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6027 (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: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
100% (68/68) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,289,003 (GRCm39) |
V2299A |
probably benign |
Het |
Acacb |
A |
G |
5: 114,303,661 (GRCm39) |
D28G |
probably benign |
Het |
Adamts6 |
G |
A |
13: 104,616,043 (GRCm39) |
G1035D |
probably damaging |
Het |
Adamts7 |
A |
C |
9: 90,073,078 (GRCm39) |
Y755S |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,791,528 (GRCm39) |
T763A |
possibly damaging |
Het |
Armc9 |
G |
C |
1: 86,172,389 (GRCm39) |
L105F |
probably damaging |
Het |
Asah2 |
T |
C |
19: 32,022,351 (GRCm39) |
N228D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Aspm |
T |
G |
1: 139,390,794 (GRCm39) |
V693G |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,965,771 (GRCm39) |
E1141G |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,563,860 (GRCm39) |
|
probably null |
Het |
Csmd2 |
G |
A |
4: 128,453,739 (GRCm39) |
D3475N |
unknown |
Het |
Dctn5 |
T |
C |
7: 121,732,564 (GRCm39) |
|
probably benign |
Het |
Dhrs4 |
A |
G |
14: 55,723,580 (GRCm39) |
K18E |
probably benign |
Het |
Eci2 |
A |
T |
13: 35,169,930 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,851,922 (GRCm39) |
F319L |
probably benign |
Het |
Elane |
A |
T |
10: 79,722,852 (GRCm39) |
H86L |
probably damaging |
Het |
Endod1 |
A |
T |
9: 14,268,893 (GRCm39) |
Y197* |
probably null |
Het |
Eno4 |
A |
G |
19: 58,935,262 (GRCm39) |
D158G |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,094,977 (GRCm39) |
T170S |
possibly damaging |
Het |
Fbxo7 |
A |
G |
10: 85,883,950 (GRCm39) |
D517G |
probably damaging |
Het |
Fkbp3 |
G |
T |
12: 65,120,692 (GRCm39) |
A2E |
possibly damaging |
Het |
Gan |
A |
G |
8: 117,885,034 (GRCm39) |
Y54C |
probably damaging |
Het |
Gdap1l1 |
T |
A |
2: 163,293,531 (GRCm39) |
N194K |
possibly damaging |
Het |
Gnptab |
A |
G |
10: 88,269,087 (GRCm39) |
T597A |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,678,646 (GRCm39) |
S492P |
possibly damaging |
Het |
Hmox1 |
C |
A |
8: 75,823,499 (GRCm39) |
H56N |
probably damaging |
Het |
Kank3 |
C |
T |
17: 34,037,088 (GRCm39) |
P131S |
possibly damaging |
Het |
Kif14 |
T |
C |
1: 136,410,797 (GRCm39) |
|
probably null |
Het |
Kif1a |
A |
T |
1: 92,953,365 (GRCm39) |
M1274K |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,907,299 (GRCm39) |
|
probably null |
Het |
Man2b1 |
C |
T |
8: 85,823,381 (GRCm39) |
T905I |
probably damaging |
Het |
Mmp15 |
C |
A |
8: 96,098,804 (GRCm39) |
H544N |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,208,259 (GRCm39) |
N1933K |
probably benign |
Het |
Ndst4 |
G |
T |
3: 125,507,025 (GRCm39) |
A730S |
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,315,053 (GRCm39) |
Q238* |
probably null |
Het |
Nwd2 |
C |
T |
5: 63,965,563 (GRCm39) |
P1716S |
possibly damaging |
Het |
Or13c7c |
A |
G |
4: 43,835,842 (GRCm39) |
V216A |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8k38 |
T |
G |
2: 86,488,148 (GRCm39) |
Y218S |
probably damaging |
Het |
P2ry6 |
T |
G |
7: 100,587,715 (GRCm39) |
M215L |
probably benign |
Het |
Parp4 |
G |
A |
14: 56,866,615 (GRCm39) |
E1060K |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,183,509 (GRCm39) |
I822V |
possibly damaging |
Het |
Pira13 |
T |
C |
7: 3,827,638 (GRCm39) |
Y173C |
possibly damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,866,272 (GRCm39) |
G528* |
probably null |
Het |
Ptk2 |
T |
A |
15: 73,101,762 (GRCm39) |
Q816L |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,220,613 (GRCm38) |
F442L |
possibly damaging |
Het |
Qrfpr |
A |
G |
3: 36,276,187 (GRCm39) |
Y68H |
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,545,274 (GRCm39) |
W458R |
probably damaging |
Het |
Ros1 |
G |
T |
10: 52,040,064 (GRCm39) |
T309N |
possibly damaging |
Het |
Rps27a |
T |
C |
11: 29,497,808 (GRCm39) |
|
probably benign |
Het |
Sarm1 |
T |
A |
11: 78,374,384 (GRCm39) |
M577L |
probably benign |
Het |
Scin |
T |
C |
12: 40,127,515 (GRCm39) |
Y425C |
probably damaging |
Het |
Serpina12 |
T |
A |
12: 103,997,336 (GRCm39) |
Y395F |
probably benign |
Het |
Sfxn2 |
T |
A |
19: 46,571,291 (GRCm39) |
Y69* |
probably null |
Het |
Skint6 |
T |
C |
4: 112,953,761 (GRCm39) |
|
probably null |
Het |
Slc7a1 |
A |
C |
5: 148,270,774 (GRCm39) |
I564S |
possibly damaging |
Het |
Smc6 |
T |
A |
12: 11,356,179 (GRCm39) |
Y933N |
probably benign |
Het |
Sp110 |
T |
C |
1: 85,505,039 (GRCm39) |
S438G |
possibly damaging |
Het |
St8sia4 |
T |
A |
1: 95,581,399 (GRCm39) |
R114S |
probably damaging |
Het |
Trim11 |
C |
T |
11: 58,869,289 (GRCm39) |
A75V |
possibly damaging |
Het |
Tufm |
T |
A |
7: 126,086,920 (GRCm39) |
H68Q |
probably damaging |
Het |
Ythdc2 |
T |
A |
18: 44,993,503 (GRCm39) |
D194E |
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 |
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 |
2017-06-26 |