Incidental Mutation 'R6178:Afg3l2'
ID |
487906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044320-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6178 (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 A
at 67542598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 616
(T616I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: T616I
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: T616I
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (54/55) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,678,468 (GRCm39) |
I61V |
probably benign |
Het |
Aktip |
T |
C |
8: 91,852,671 (GRCm39) |
N195S |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Atg7 |
T |
A |
6: 114,701,856 (GRCm39) |
I621N |
probably damaging |
Het |
Becn1 |
T |
A |
11: 101,182,336 (GRCm39) |
I283F |
probably damaging |
Het |
Btnl12 |
T |
C |
16: 37,676,422 (GRCm39) |
Y115C |
probably damaging |
Het |
C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,785,222 (GRCm39) |
R3004M |
probably benign |
Het |
Clspn |
A |
T |
4: 126,471,529 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
C |
15: 48,536,854 (GRCm39) |
Y116C |
probably damaging |
Het |
Dcp1a |
T |
G |
14: 30,245,261 (GRCm39) |
*603G |
probably null |
Het |
Dmrtc1b |
C |
T |
X: 101,757,169 (GRCm39) |
P205S |
possibly damaging |
Het |
Fev |
G |
T |
1: 74,923,698 (GRCm39) |
|
probably benign |
Het |
Fry |
T |
A |
5: 150,377,987 (GRCm39) |
V393E |
probably damaging |
Het |
Gm30646 |
A |
G |
7: 30,132,081 (GRCm39) |
|
probably null |
Het |
Gm3676 |
C |
T |
14: 41,363,452 (GRCm39) |
E175K |
probably benign |
Het |
Gm4847 |
T |
C |
1: 166,469,905 (GRCm39) |
Y56C |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,688 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
A |
G |
3: 107,848,397 (GRCm39) |
V174A |
probably benign |
Het |
Isoc1 |
G |
T |
18: 58,804,664 (GRCm39) |
V191F |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 33,874,009 (GRCm39) |
D132V |
possibly damaging |
Het |
Kcp |
T |
C |
6: 29,482,887 (GRCm39) |
D1394G |
possibly damaging |
Het |
Marchf10 |
T |
G |
11: 105,280,440 (GRCm39) |
D615A |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,495,187 (GRCm39) |
I50T |
probably damaging |
Het |
Mgp |
A |
G |
6: 136,849,722 (GRCm39) |
C79R |
probably damaging |
Het |
Mpdz |
T |
A |
4: 81,226,602 (GRCm39) |
K1344N |
probably damaging |
Het |
Mrgpre |
T |
A |
7: 143,334,708 (GRCm39) |
Y265F |
possibly damaging |
Het |
Mro |
G |
A |
18: 74,006,295 (GRCm39) |
V80M |
possibly damaging |
Het |
Mrpl44 |
G |
T |
1: 79,755,895 (GRCm39) |
C167F |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,410,079 (GRCm39) |
M1218V |
probably null |
Het |
Naa16 |
T |
C |
14: 79,620,780 (GRCm39) |
I100V |
possibly damaging |
Het |
Nup205 |
A |
T |
6: 35,220,778 (GRCm39) |
Y1860F |
possibly damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,533 (GRCm39) |
Y198F |
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,819 (GRCm39) |
I316M |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4c103 |
T |
C |
2: 88,513,977 (GRCm39) |
Y33C |
probably damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,071 (GRCm39) |
|
probably null |
Het |
Pnpla3 |
G |
A |
15: 84,065,132 (GRCm39) |
A309T |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,498,296 (GRCm39) |
S624P |
possibly damaging |
Het |
Ripor2 |
T |
C |
13: 24,894,113 (GRCm39) |
S714P |
possibly damaging |
Het |
Robo4 |
C |
T |
9: 37,316,926 (GRCm39) |
Q414* |
probably null |
Het |
Shc2 |
A |
G |
10: 79,465,954 (GRCm39) |
I161T |
probably damaging |
Het |
Slc35b2 |
C |
T |
17: 45,877,302 (GRCm39) |
T143I |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,898,880 (GRCm39) |
D77G |
probably damaging |
Het |
Snx6 |
A |
C |
12: 54,807,249 (GRCm39) |
D243E |
probably damaging |
Het |
Taar8b |
A |
G |
10: 23,967,711 (GRCm39) |
V161A |
probably benign |
Het |
Tbr1 |
T |
A |
2: 61,635,159 (GRCm39) |
D36E |
possibly damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,618 (GRCm39) |
N118S |
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,517 (GRCm39) |
F478L |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,704,837 (GRCm39) |
D27G |
probably benign |
Het |
Trim30d |
T |
G |
7: 104,137,202 (GRCm39) |
M1L |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,679,301 (GRCm39) |
V420A |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,206,981 (GRCm39) |
P199H |
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,926,212 (GRCm39) |
T512A |
probably damaging |
Het |
Zfp65 |
G |
A |
13: 67,858,437 (GRCm39) |
P76S |
probably benign |
Het |
Zic5 |
A |
T |
14: 122,696,748 (GRCm39) |
H622Q |
unknown |
Het |
Zpld1 |
A |
T |
16: 55,053,993 (GRCm39) |
N266K |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,972 (GRCm39) |
|
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 |
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 |
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'- TGCAAAGGCTGATTCCCAGG -3'
(R):5'- ACGTGCTTTCTGGGCCTAAC -3'
Sequencing Primer
(F):5'- CTGATTCCCAGGCAGGTAAG -3'
(R):5'- CTTTCTGGGCCTAACTCGGG -3'
|
Posted On |
2017-10-10 |