Incidental Mutation 'R1815:Afg3l2'
ID |
202683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
039843-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 67548643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 529
(L529*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025408
AA Change: L529*
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: L529*
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: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
A |
G |
1: 171,083,905 (GRCm39) |
T492A |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,213,572 (GRCm39) |
E259G |
probably damaging |
Het |
Apol11b |
T |
A |
15: 77,519,772 (GRCm39) |
I103F |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,501,667 (GRCm39) |
M864V |
possibly damaging |
Het |
Atp8a2 |
A |
G |
14: 60,324,073 (GRCm39) |
L60P |
probably damaging |
Het |
Begain |
T |
C |
12: 109,000,033 (GRCm39) |
Y451C |
probably damaging |
Het |
Bmpr1b |
A |
T |
3: 141,586,124 (GRCm39) |
I46N |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,360,742 (GRCm39) |
K1242M |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,622,358 (GRCm39) |
L254P |
probably damaging |
Het |
Ccdc112 |
A |
T |
18: 46,424,173 (GRCm39) |
N188K |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdkal1 |
A |
G |
13: 29,901,774 (GRCm39) |
V132A |
possibly damaging |
Het |
Cdo1 |
A |
G |
18: 46,853,369 (GRCm39) |
C130R |
probably damaging |
Het |
Cep295nl |
G |
T |
11: 118,223,474 (GRCm39) |
R457S |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,148,829 (GRCm39) |
I359F |
probably benign |
Het |
Csnk1g1 |
T |
C |
9: 65,939,606 (GRCm39) |
V435A |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,855 (GRCm39) |
V59A |
probably benign |
Het |
Ddr2 |
A |
T |
1: 169,823,170 (GRCm39) |
Y371* |
probably null |
Het |
Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,400 (GRCm39) |
I1901V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,088,056 (GRCm39) |
I903N |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,529 (GRCm39) |
Q471R |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,757,577 (GRCm39) |
N238K |
probably damaging |
Het |
Gsdmc3 |
A |
T |
15: 63,740,965 (GRCm39) |
L61H |
probably damaging |
Het |
H2-M10.5 |
T |
A |
17: 37,084,836 (GRCm39) |
C187S |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,283,055 (GRCm39) |
I1977T |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,260,914 (GRCm39) |
I905F |
probably benign |
Het |
Jmy |
C |
T |
13: 93,590,585 (GRCm39) |
G506D |
probably damaging |
Het |
Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,800 (GRCm39) |
E894G |
probably damaging |
Het |
Klra7 |
T |
C |
6: 130,201,070 (GRCm39) |
I229V |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,565 (GRCm39) |
T150A |
probably benign |
Het |
Krtap20-1 |
T |
C |
16: 88,812,337 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,227,896 (GRCm39) |
Y1199C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,724,642 (GRCm39) |
N75K |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,388,798 (GRCm39) |
S700P |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,559,375 (GRCm39) |
Q288L |
probably benign |
Het |
Mical2 |
A |
G |
7: 112,012,109 (GRCm39) |
E653G |
probably damaging |
Het |
Mphosph10 |
G |
T |
7: 64,041,918 (GRCm39) |
Q9K |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,561,603 (GRCm39) |
L13Q |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,134,602 (GRCm39) |
D18G |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,839,101 (GRCm39) |
Y127C |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
Or8g18 |
T |
C |
9: 39,149,286 (GRCm39) |
I145V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,366,618 (GRCm39) |
Y28* |
probably null |
Het |
Pdcd2l |
G |
A |
7: 33,885,826 (GRCm39) |
T286I |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
Phlpp2 |
C |
A |
8: 110,666,855 (GRCm39) |
T1128K |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,975,148 (GRCm39) |
V244A |
possibly damaging |
Het |
Pld1 |
A |
G |
3: 28,163,917 (GRCm39) |
I783M |
probably benign |
Het |
Plk5 |
T |
C |
10: 80,199,855 (GRCm39) |
V454A |
probably benign |
Het |
Prkci |
T |
C |
3: 31,092,644 (GRCm39) |
S309P |
probably damaging |
Het |
Prx |
A |
T |
7: 27,216,090 (GRCm39) |
D197V |
probably damaging |
Het |
Ptpn5 |
A |
G |
7: 46,728,589 (GRCm39) |
L537P |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,867 (GRCm39) |
N1121K |
probably benign |
Het |
Rock2 |
T |
A |
12: 17,022,727 (GRCm39) |
D1055E |
probably benign |
Het |
Rrp1b |
T |
C |
17: 32,275,785 (GRCm39) |
V444A |
probably benign |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
S1pr2 |
G |
A |
9: 20,879,388 (GRCm39) |
R147* |
probably null |
Het |
Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,344,602 (GRCm39) |
|
probably null |
Het |
Srsf11 |
C |
T |
3: 157,722,064 (GRCm39) |
|
probably benign |
Het |
Sstr1 |
T |
C |
12: 58,260,264 (GRCm39) |
F296L |
possibly damaging |
Het |
Tecrl |
T |
A |
5: 83,427,081 (GRCm39) |
I356L |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,136,705 (GRCm39) |
I2348T |
probably damaging |
Het |
Tmed11 |
T |
A |
5: 108,925,291 (GRCm39) |
I174L |
probably benign |
Het |
Tmem132a |
G |
A |
19: 10,838,931 (GRCm39) |
Q504* |
probably null |
Het |
Unc5c |
A |
T |
3: 141,463,518 (GRCm39) |
D213V |
probably damaging |
Het |
Utp25 |
A |
C |
1: 192,800,591 (GRCm39) |
S410A |
probably benign |
Het |
Vgll4 |
T |
C |
6: 114,841,020 (GRCm39) |
D92G |
probably benign |
Het |
Vps37a |
T |
C |
8: 40,965,162 (GRCm39) |
F5L |
probably benign |
Het |
Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,898 (GRCm39) |
C803Y |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,942,814 (GRCm39) |
T427A |
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 |
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'- AGAGAAATCATGGACTGGAGATTTC -3'
(R):5'- ATTTTAGCTCCCAGGGCCAAG -3'
Sequencing Primer
(F):5'- ATGGACTGGAGATTTCTTTTATGAGC -3'
(R):5'- CCCAGGGCCAAGATTATATAGCTTG -3'
|
Posted On |
2014-06-23 |