Incidental Mutation 'R5363:Afg3l2'
ID |
422962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
042941-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5363 (G1)
|
Quality Score |
225 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,455,579 (GRCm39) |
D35G |
possibly damaging |
Het |
Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,246,259 (GRCm39) |
V378A |
probably benign |
Het |
Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,220,498 (GRCm39) |
N410D |
probably damaging |
Het |
Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
Posted On |
2016-08-04 |