Incidental Mutation 'R5979:Afg3l2'
| ID |
481352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
044161-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5979 (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: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (87/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,364,029 (GRCm39) |
I103V |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,167,383 (GRCm39) |
N36S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,009,528 (GRCm39) |
V45A |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,681,860 (GRCm39) |
L69* |
probably null |
Het |
| Alkbh5 |
T |
A |
11: 60,429,517 (GRCm39) |
I90N |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,858,120 (GRCm39) |
Y193C |
probably damaging |
Het |
| Ankrd11 |
T |
G |
8: 123,619,139 (GRCm39) |
D1571A |
probably damaging |
Het |
| Brd4 |
T |
C |
17: 32,417,700 (GRCm39) |
D124G |
probably benign |
Het |
| C2cd2 |
G |
A |
16: 97,676,418 (GRCm39) |
T443I |
probably benign |
Het |
| Casp8 |
A |
T |
1: 58,868,071 (GRCm39) |
M171L |
probably benign |
Het |
| Cd200r4 |
G |
A |
16: 44,653,295 (GRCm39) |
V22I |
probably benign |
Het |
| Cdcp2 |
A |
G |
4: 106,962,478 (GRCm39) |
Y217C |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,046,409 (GRCm39) |
V556F |
possibly damaging |
Het |
| Chka |
T |
G |
19: 3,934,513 (GRCm39) |
I182M |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,755,193 (GRCm39) |
|
probably null |
Het |
| Coq10b |
T |
C |
1: 55,092,077 (GRCm39) |
V15A |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,270,710 (GRCm39) |
S309T |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,766,232 (GRCm39) |
H992L |
possibly damaging |
Het |
| Dctn3 |
T |
C |
4: 41,715,393 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
G |
T |
2: 158,684,789 (GRCm39) |
R536L |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 31,034,638 (GRCm39) |
E4186* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,725,307 (GRCm39) |
L4282P |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,312,012 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,199,453 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,101,887 (GRCm39) |
V214L |
probably benign |
Het |
| Fam131b |
T |
C |
6: 42,298,905 (GRCm39) |
D25G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,089 (GRCm39) |
I283F |
probably damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,254,931 (GRCm39) |
N205K |
possibly damaging |
Het |
| Got1l1 |
C |
T |
8: 27,687,951 (GRCm39) |
|
probably null |
Het |
| Gprin1 |
G |
A |
13: 54,887,791 (GRCm39) |
A161V |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,149 (GRCm39) |
F183I |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,156,279 (GRCm39) |
T82A |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,243,894 (GRCm39) |
E147K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,519,740 (GRCm39) |
A1700T |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,841 (GRCm39) |
V514A |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 27,111,728 (GRCm39) |
D764G |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,773,900 (GRCm39) |
R358H |
probably damaging |
Het |
| Limd1 |
G |
T |
9: 123,308,479 (GRCm39) |
Q59H |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,657,148 (GRCm39) |
Y1814C |
possibly damaging |
Het |
| Lysmd3 |
G |
A |
13: 81,813,393 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
T |
C |
4: 106,578,123 (GRCm39) |
N185S |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,143 (GRCm39) |
G149D |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,283,493 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
T |
C |
11: 59,439,797 (GRCm39) |
F458S |
probably benign |
Het |
| Nop58 |
A |
T |
1: 59,741,990 (GRCm39) |
D173V |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,631 (GRCm39) |
R175H |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,307,862 (GRCm39) |
N322S |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,467 (GRCm39) |
S240P |
probably damaging |
Het |
| Or10a5 |
G |
A |
7: 106,635,543 (GRCm39) |
M60I |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,616,083 (GRCm39) |
K90E |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,666 (GRCm39) |
H242R |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,595 (GRCm39) |
T177I |
possibly damaging |
Het |
| Parn |
A |
C |
16: 13,424,035 (GRCm39) |
L454R |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,044 (GRCm39) |
L730Q |
possibly damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,827 (GRCm39) |
F1377L |
probably damaging |
Het |
| Pign |
G |
T |
1: 105,516,999 (GRCm39) |
S542R |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,202,596 (GRCm39) |
V502F |
probably damaging |
Het |
| Psmd1 |
A |
T |
1: 86,017,775 (GRCm39) |
I529F |
possibly damaging |
Het |
| Ptafr |
A |
G |
4: 132,306,616 (GRCm39) |
E2G |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,960 (GRCm39) |
N380S |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,939,679 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,433,244 (GRCm39) |
Y174H |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,632 (GRCm39) |
S457P |
probably damaging |
Het |
| Sall4 |
A |
T |
2: 168,592,263 (GRCm39) |
S964T |
probably benign |
Het |
| Sart1 |
T |
A |
19: 5,431,251 (GRCm39) |
I681F |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,644 (GRCm39) |
L49P |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,036 (GRCm39) |
V154A |
probably benign |
Het |
| Skic2 |
A |
T |
17: 35,060,439 (GRCm39) |
N851K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,358,334 (GRCm39) |
V136I |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,440,627 (GRCm39) |
T1747I |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,283,339 (GRCm39) |
D339E |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,911,060 (GRCm39) |
L195P |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,843 (GRCm39) |
G414W |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tmem39a |
A |
T |
16: 38,396,106 (GRCm39) |
N113I |
probably damaging |
Het |
| Trim14 |
C |
T |
4: 46,507,239 (GRCm39) |
V326M |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,536,909 (GRCm39) |
E234G |
probably damaging |
Het |
| Ttr |
T |
C |
18: 20,803,059 (GRCm39) |
L75P |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,776,863 (GRCm39) |
V293I |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,990 (GRCm39) |
V303E |
probably benign |
Het |
| Vmn2r30 |
A |
C |
7: 7,315,334 (GRCm39) |
I833S |
probably damaging |
Het |
| Zfp131 |
G |
T |
13: 120,237,982 (GRCm39) |
N125K |
probably benign |
Het |
| Zfp169 |
A |
T |
13: 48,644,516 (GRCm39) |
|
probably benign |
Het |
| Zfp213 |
C |
A |
17: 23,776,885 (GRCm39) |
E386* |
probably null |
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 |
|
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'- GCACTGTCCAGCTTCAATGG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation