Incidental Mutation 'R6216:Afg3l2'
ID |
503753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044349-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6216 (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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (67/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,910 (GRCm39) |
D488G |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,672,590 (GRCm39) |
|
probably null |
Het |
Alkbh3 |
G |
A |
2: 93,838,881 (GRCm39) |
|
probably benign |
Het |
Ankrd22 |
A |
T |
19: 34,101,569 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,254,790 (GRCm39) |
D212G |
probably benign |
Het |
Bbx |
A |
T |
16: 50,071,751 (GRCm39) |
S225T |
probably benign |
Het |
Bivm |
T |
A |
1: 44,166,028 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
A |
G |
2: 153,767,773 (GRCm39) |
Y282C |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,597,793 (GRCm39) |
I1767N |
probably damaging |
Het |
Ccdc28a |
G |
T |
10: 18,100,719 (GRCm39) |
S36* |
probably null |
Het |
Ccser2 |
A |
G |
14: 36,662,465 (GRCm39) |
S240P |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,171,421 (GRCm39) |
S348T |
probably benign |
Het |
Ddx49 |
C |
T |
8: 70,749,934 (GRCm39) |
G161D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,193,864 (GRCm39) |
E353G |
possibly damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
Etv2 |
A |
G |
7: 30,334,036 (GRCm39) |
|
probably null |
Het |
Extl1 |
T |
C |
4: 134,090,441 (GRCm39) |
T345A |
probably benign |
Het |
Fam163a |
A |
T |
1: 155,954,741 (GRCm39) |
S137T |
probably benign |
Het |
Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,694,742 (GRCm39) |
C388R |
probably damaging |
Het |
Galnt18 |
A |
C |
7: 111,112,757 (GRCm39) |
V470G |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,749,397 (GRCm39) |
I602F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,954,020 (GRCm39) |
|
probably null |
Het |
Hace1 |
T |
C |
10: 45,494,643 (GRCm39) |
V151A |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,379,929 (GRCm39) |
D258E |
probably benign |
Het |
Heatr1 |
C |
T |
13: 12,447,545 (GRCm39) |
T1746I |
probably benign |
Het |
Hrnr |
T |
C |
3: 93,239,469 (GRCm39) |
S3236P |
unknown |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kiz |
C |
A |
2: 146,731,417 (GRCm39) |
D302E |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,806,343 (GRCm39) |
W619R |
probably damaging |
Het |
Mfap3l |
C |
A |
8: 61,124,841 (GRCm39) |
T361K |
probably damaging |
Het |
Mlec |
T |
C |
5: 115,288,376 (GRCm39) |
H160R |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,365,494 (GRCm39) |
L89P |
probably benign |
Het |
Neb |
T |
C |
2: 52,114,564 (GRCm39) |
I4232V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,302,433 (GRCm39) |
I334V |
possibly damaging |
Het |
Nipbl |
A |
C |
15: 8,347,867 (GRCm39) |
F1942V |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,665 (GRCm39) |
I181N |
probably benign |
Het |
Or4a70 |
C |
A |
2: 89,324,066 (GRCm39) |
V197F |
probably damaging |
Het |
Or4c11c |
T |
C |
2: 88,661,655 (GRCm39) |
S65P |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,902 (GRCm39) |
Y220H |
probably damaging |
Het |
Pabpc2 |
G |
T |
18: 39,907,772 (GRCm39) |
A346S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,971,171 (GRCm39) |
T393A |
unknown |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,981 (GRCm39) |
T259S |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,669,224 (GRCm39) |
L253H |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,869 (GRCm39) |
D1428G |
probably benign |
Het |
Pkd1l2 |
T |
G |
8: 117,808,209 (GRCm39) |
D105A |
probably damaging |
Het |
Pou2f1 |
G |
T |
1: 165,707,889 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,921 (GRCm39) |
E100G |
probably damaging |
Het |
Ppp1r15a |
G |
T |
7: 45,173,446 (GRCm39) |
T454K |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,362,239 (GRCm39) |
I381N |
probably damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,265 (GRCm39) |
V262E |
probably damaging |
Het |
Rab21 |
A |
T |
10: 115,130,831 (GRCm39) |
H158Q |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,426,357 (GRCm39) |
S830P |
probably damaging |
Het |
Rdh1 |
G |
A |
10: 127,600,622 (GRCm39) |
S215N |
probably benign |
Het |
Rhot1 |
G |
A |
11: 80,141,885 (GRCm39) |
R463H |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Selenom |
A |
T |
11: 3,464,915 (GRCm39) |
|
probably benign |
Het |
Selenop |
T |
C |
15: 3,308,947 (GRCm39) |
C300R |
probably damaging |
Het |
Skint1 |
T |
A |
4: 111,878,679 (GRCm39) |
S204T |
probably benign |
Het |
Ss18l1 |
A |
G |
2: 179,703,706 (GRCm39) |
N313S |
unknown |
Het |
Sycp2l |
A |
G |
13: 41,295,200 (GRCm39) |
D289G |
probably damaging |
Het |
Terf1 |
C |
T |
1: 15,889,221 (GRCm39) |
H188Y |
probably benign |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trdn |
A |
G |
10: 33,181,065 (GRCm39) |
T357A |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,856,859 (GRCm39) |
M401R |
probably benign |
Het |
Ubald2 |
A |
C |
11: 116,325,211 (GRCm39) |
D26A |
probably benign |
Het |
Ube2w |
C |
G |
1: 16,689,508 (GRCm39) |
|
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,811,267 (GRCm39) |
S450R |
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 |
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 |
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 |
2018-02-27 |