Incidental Mutation 'R0650:Afg3l2'
| ID |
62243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
038835-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0650 (G1)
|
| Quality Score |
136 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67548627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 534
(H534Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: H534Q
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: H534Q
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N15Rik |
A |
G |
X: 68,989,391 (GRCm39) |
S96G |
unknown |
Het |
| 4930447C04Rik |
T |
C |
12: 72,956,830 (GRCm39) |
D120G |
probably damaging |
Het |
| Actmap |
A |
T |
7: 26,902,072 (GRCm39) |
H233L |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
| Ankar |
G |
A |
1: 72,695,380 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,930 (GRCm39) |
F1814L |
possibly damaging |
Het |
| Asb15 |
C |
T |
6: 24,566,163 (GRCm39) |
A372V |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,709,421 (GRCm39) |
D403V |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,433 (GRCm39) |
D407G |
probably benign |
Het |
| Ccdc121 |
T |
C |
5: 31,643,312 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,556,526 (GRCm39) |
V633A |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,185,571 (GRCm39) |
Y2482C |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,439,761 (GRCm39) |
E964G |
probably benign |
Het |
| Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,460,443 (GRCm39) |
N18D |
probably damaging |
Het |
| Fis1 |
T |
A |
5: 136,991,048 (GRCm39) |
V4E |
probably damaging |
Het |
| Gba2 |
T |
A |
4: 43,570,424 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
C |
T |
7: 42,469,504 (GRCm39) |
G207R |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,804,640 (GRCm39) |
|
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,290,691 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,762,958 (GRCm39) |
S896A |
probably damaging |
Het |
| Huwe1 |
T |
C |
X: 150,659,309 (GRCm39) |
S921P |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,927 (GRCm39) |
Y220* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,937,920 (GRCm39) |
D139G |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,384,921 (GRCm39) |
N392D |
probably damaging |
Het |
| L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,019,622 (GRCm39) |
I440F |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,942,084 (GRCm39) |
A718V |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,666 (GRCm39) |
I51V |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,424,408 (GRCm39) |
R25* |
probably null |
Het |
| Npdc1 |
C |
T |
2: 25,298,021 (GRCm39) |
T199I |
probably benign |
Het |
| Nup98 |
T |
A |
7: 101,801,660 (GRCm39) |
Y755F |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,966,996 (GRCm39) |
C100S |
probably damaging |
Het |
| Or5p76 |
G |
T |
7: 108,122,289 (GRCm39) |
N289K |
probably damaging |
Het |
| Or8g22 |
T |
A |
9: 38,957,996 (GRCm39) |
M240L |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,161,797 (GRCm39) |
I493F |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,780 (GRCm39) |
I895V |
probably benign |
Het |
| Peg10 |
T |
TCCCCANNANNNN |
6: 4,756,475 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,726 (GRCm39) |
L457* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,945,482 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plcg1 |
C |
T |
2: 160,595,283 (GRCm39) |
|
probably benign |
Het |
| Prr13 |
A |
C |
15: 102,370,650 (GRCm39) |
*138C |
probably null |
Het |
| Prrc2b |
T |
C |
2: 32,119,267 (GRCm39) |
|
probably benign |
Het |
| Psph |
T |
C |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,344,746 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
G |
9: 75,576,617 (GRCm39) |
S253P |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,964,255 (GRCm39) |
F940L |
probably benign |
Het |
| Slbp |
T |
C |
5: 33,802,833 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Susd5 |
A |
T |
9: 113,911,603 (GRCm39) |
H171L |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,664 (GRCm39) |
E354G |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,735,412 (GRCm39) |
N845D |
possibly damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,939,050 (GRCm39) |
I666N |
probably damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,029,285 (GRCm39) |
I111T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,971 (GRCm39) |
T852A |
probably benign |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,625 (GRCm39) |
I185K |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,974 (GRCm39) |
E305G |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,668,959 (GRCm39) |
V22A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,031,051 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,627 (GRCm39) |
Q191L |
probably benign |
Het |
| Urod |
T |
C |
4: 116,848,473 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,889,574 (GRCm39) |
Q723* |
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 |
|
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 |
|
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'- AGATAGCATGGCAAGCCCCAAG -3'
(R):5'- CTCATTTTAGCTCCCAGGGCCAAG -3'
Sequencing Primer
(F):5'- TGGTAGCTCTTGCCAAAACAG -3'
(R):5'- GTACTCAGTACTAGAGTAGCTCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation