Incidental Mutation 'IGL01868:Afg3l2'
| ID |
178599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67547218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 569
(T569M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: T569M
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T569M
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,560,212 (GRCm39) |
K620* |
probably null |
Het |
| Amdhd2 |
G |
T |
17: 24,376,504 (GRCm39) |
T346K |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,902,904 (GRCm39) |
D521G |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,170,960 (GRCm39) |
R506L |
probably benign |
Het |
| Cd37 |
T |
C |
7: 44,885,603 (GRCm39) |
Q128R |
probably benign |
Het |
| Cdh22 |
T |
A |
2: 164,999,278 (GRCm39) |
M185L |
probably damaging |
Het |
| Cib2 |
A |
T |
9: 54,455,759 (GRCm39) |
N68K |
probably damaging |
Het |
| Ddx46 |
C |
T |
13: 55,787,683 (GRCm39) |
R96* |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,039,944 (GRCm39) |
H2050Q |
possibly damaging |
Het |
| Drgx |
C |
A |
14: 32,330,334 (GRCm39) |
F150L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,168,888 (GRCm39) |
H1172R |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,759,953 (GRCm39) |
V132I |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,351,014 (GRCm39) |
D87N |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,416,471 (GRCm39) |
F660L |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,708,238 (GRCm39) |
M259V |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,619,417 (GRCm39) |
L90* |
probably null |
Het |
| Lsm1 |
G |
A |
8: 26,283,821 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
C |
4: 136,270,048 (GRCm39) |
I757T |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 78,999,260 (GRCm39) |
I76V |
probably benign |
Het |
| Mmp21 |
A |
T |
7: 133,277,643 (GRCm39) |
D394E |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,258,018 (GRCm39) |
D68G |
probably null |
Het |
| Necab2 |
A |
G |
8: 120,189,315 (GRCm39) |
S162G |
probably benign |
Het |
| Or11a4 |
A |
T |
17: 37,536,043 (GRCm39) |
Q9L |
probably benign |
Het |
| Or4c100 |
T |
C |
2: 88,356,059 (GRCm39) |
V44A |
possibly damaging |
Het |
| Or51b17 |
G |
A |
7: 103,542,583 (GRCm39) |
R120* |
probably null |
Het |
| Or6n1 |
C |
T |
1: 173,916,936 (GRCm39) |
T110I |
possibly damaging |
Het |
| Pde7b |
A |
T |
10: 20,282,911 (GRCm39) |
C376* |
probably null |
Het |
| Pira12 |
G |
A |
7: 3,900,174 (GRCm39) |
Q143* |
probably null |
Het |
| Plcb2 |
A |
G |
2: 118,540,071 (GRCm39) |
L1074P |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,541,868 (GRCm39) |
T914N |
probably benign |
Het |
| Prph |
C |
A |
15: 98,954,224 (GRCm39) |
D207E |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,112,968 (GRCm39) |
R37L |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,633,503 (GRCm39) |
|
probably benign |
Het |
| Sardh |
T |
G |
2: 27,117,159 (GRCm39) |
Q496P |
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,704 (GRCm39) |
N193Y |
probably benign |
Het |
| Slc10a7 |
G |
A |
8: 79,423,965 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
C |
8: 123,816,975 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
C |
1: 83,258,120 (GRCm39) |
|
probably null |
Het |
| Tas2r121 |
T |
A |
6: 132,677,235 (GRCm39) |
I246L |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,460 (GRCm39) |
F889S |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,597,263 (GRCm39) |
M140T |
possibly damaging |
Het |
| Tctn2 |
G |
A |
5: 124,754,591 (GRCm39) |
|
noncoding transcript |
Het |
| Tfap2b |
G |
T |
1: 19,284,506 (GRCm39) |
R138L |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,567 (GRCm39) |
T985A |
unknown |
Het |
| Treml1 |
G |
A |
17: 48,673,035 (GRCm39) |
V211I |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,139,989 (GRCm39) |
Q1191* |
probably null |
Het |
| Vim |
G |
A |
2: 13,583,249 (GRCm39) |
R217H |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r77 |
A |
G |
7: 86,452,224 (GRCm39) |
D468G |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,286,548 (GRCm39) |
V349F |
probably benign |
Het |
| Vwa7 |
A |
T |
17: 35,240,235 (GRCm39) |
E401V |
probably null |
Het |
| Zfp119b |
C |
A |
17: 56,246,866 (GRCm39) |
V75L |
possibly damaging |
Het |
| Zfp287 |
C |
T |
11: 62,606,083 (GRCm39) |
E275K |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation