Incidental Mutation 'R2013:Afg3l2'
| ID |
222471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
040022-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2013 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67564842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 211
(V211I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: V211I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: V211I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
| 4921504E06Rik |
T |
A |
2: 19,545,124 (GRCm39) |
M110L |
probably benign |
Het |
| Acad9 |
T |
G |
3: 36,127,737 (GRCm39) |
I113R |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,079,442 (GRCm39) |
S261G |
possibly damaging |
Het |
| Adamts6 |
A |
T |
13: 104,450,812 (GRCm39) |
I332F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,991,937 (GRCm39) |
I4407T |
probably damaging |
Het |
| Alpl |
G |
T |
4: 137,482,458 (GRCm39) |
H79N |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,908 (GRCm39) |
M540T |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,152,147 (GRCm39) |
E600G |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,658,655 (GRCm39) |
W1742R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,522,337 (GRCm38) |
D609V |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,941,983 (GRCm39) |
M174I |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,913,748 (GRCm39) |
L877* |
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,143,047 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dip2c |
C |
T |
13: 9,617,882 (GRCm39) |
Q426* |
probably null |
Het |
| Dsp |
A |
G |
13: 38,375,434 (GRCm39) |
N1073S |
probably damaging |
Het |
| Epyc |
T |
C |
10: 97,511,655 (GRCm39) |
I216T |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,994,041 (GRCm39) |
S300P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,243,026 (GRCm39) |
T80A |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,352,465 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,409 (GRCm39) |
|
probably null |
Het |
| H2-Q4 |
A |
G |
17: 35,599,526 (GRCm39) |
E203G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,745,355 (GRCm39) |
D214G |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
| Hmmr |
A |
T |
11: 40,619,259 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
| Htt |
T |
G |
5: 35,010,215 (GRCm39) |
L1556R |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,898,117 (GRCm39) |
K73E |
possibly damaging |
Het |
| Il6st |
G |
A |
13: 112,635,423 (GRCm39) |
A551T |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
| Maged1 |
T |
C |
X: 93,580,523 (GRCm39) |
Y636C |
possibly damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 35,083,922 (GRCm39) |
V89A |
probably benign |
Het |
| Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
| Mybphl |
A |
C |
3: 108,282,718 (GRCm39) |
T203P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,385,057 (GRCm39) |
T1720A |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,985 (GRCm39) |
Q748R |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,974 (GRCm39) |
L161R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,487 (GRCm39) |
D96V |
probably damaging |
Het |
| Or4d11 |
T |
A |
19: 12,013,518 (GRCm39) |
E196V |
probably damaging |
Het |
| Or5w18 |
T |
G |
2: 87,632,847 (GRCm39) |
V38G |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,662,498 (GRCm39) |
C1159Y |
probably damaging |
Het |
| Phf21a |
T |
C |
2: 92,058,828 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
| Psg22 |
A |
T |
7: 18,453,560 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
| Qtrt2 |
A |
G |
16: 43,689,455 (GRCm39) |
I181T |
probably damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,442,802 (GRCm39) |
I1481N |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,713,399 (GRCm39) |
A376V |
possibly damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,459,832 (GRCm39) |
C1354R |
probably damaging |
Het |
| Ssu2 |
C |
T |
6: 112,360,902 (GRCm39) |
E52K |
possibly damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,732 (GRCm39) |
H74L |
possibly damaging |
Het |
| Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,972,223 (GRCm39) |
|
probably null |
Het |
| Tpst2 |
G |
T |
5: 112,455,880 (GRCm39) |
G140C |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,981 (GRCm39) |
F1634I |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,600 (GRCm39) |
F1017L |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,766,948 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,006 (GRCm39) |
T118A |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,109 (GRCm39) |
T155A |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
| Vmn2r79 |
T |
G |
7: 86,653,289 (GRCm39) |
L518R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
| Wdr33 |
C |
A |
18: 32,022,029 (GRCm39) |
Q860K |
unknown |
Het |
| Zfp423 |
T |
A |
8: 88,509,025 (GRCm39) |
I440F |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly 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 |
|
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'- GGACAGCGAACCATCTGTAACATAG -3'
(R):5'- ATTGCCACATGTTCTCACCG -3'
Sequencing Primer
(F):5'- GACAAGGTCTTTCTGTGTACCCAAG -3'
(R):5'- CACCGGATTTTAAAAAGTCACCATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation