Incidental Mutation 'R0962:Afg3l2'
| ID |
81322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67538497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 754
(T754A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001513]
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001513
|
| SMART Domains |
Protein: ENSMUSP00000001513
Gene: ENSMUSG00000001473
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
6.2e-66 |
SMART |
|
Tubulin_C
|
246 |
383 |
3.57e-48 |
SMART |
|
low complexity region
|
432 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: T754A
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T754A
| 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 |
0.0615 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,010 (GRCm39) |
I319T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,124,128 (GRCm39) |
V720A |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,815,998 (GRCm39) |
M172V |
probably benign |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,880 (GRCm39) |
L267Q |
probably damaging |
Het |
| Tex9 |
T |
C |
9: 72,391,374 (GRCm39) |
T92A |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTAGCTGACAACCTTCTCATTC -3'
(R):5'- ACGTGTGCCCAGATTTACGAGAC -3'
Sequencing Primer
(F):5'- ATTCAGCGGctcctccttc -3'
(R):5'- caccagaagagggcatcag -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation