Incidental Mutation 'R5973:Afg3l2'
ID |
471579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044156-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5973 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 67554329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 458
(L458M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: L458M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: L458M
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 |
0.3865 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,364,928 (GRCm39) |
I1536N |
probably damaging |
Het |
Actr1b |
A |
G |
1: 36,741,162 (GRCm39) |
S140P |
probably damaging |
Het |
Anapc7 |
A |
T |
5: 122,566,366 (GRCm39) |
T92S |
probably benign |
Het |
Ash2l |
G |
A |
8: 26,307,642 (GRCm39) |
T585M |
possibly damaging |
Het |
Asxl1 |
T |
C |
2: 153,243,931 (GRCm39) |
F1495L |
probably damaging |
Het |
Atp5pf |
T |
C |
16: 84,625,328 (GRCm39) |
|
probably null |
Het |
Bcl2a1c |
A |
G |
9: 114,159,465 (GRCm39) |
N81S |
probably benign |
Het |
Bfsp2 |
A |
C |
9: 103,309,856 (GRCm39) |
|
probably null |
Het |
Casq1 |
A |
G |
1: 172,047,068 (GRCm39) |
Y64H |
probably damaging |
Het |
Ceacam16 |
A |
G |
7: 19,590,262 (GRCm39) |
V227A |
probably damaging |
Het |
Cers6 |
T |
A |
2: 68,898,969 (GRCm39) |
|
probably null |
Het |
Chrnb1 |
A |
G |
11: 69,686,671 (GRCm39) |
|
probably benign |
Het |
Clpb |
G |
A |
7: 101,313,204 (GRCm39) |
V63I |
probably benign |
Het |
Dnah11 |
G |
T |
12: 118,074,687 (GRCm39) |
D1388E |
probably benign |
Het |
Dst |
T |
C |
1: 34,195,938 (GRCm39) |
L405P |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,362,149 (GRCm39) |
E193G |
probably damaging |
Het |
Dusp2 |
A |
T |
2: 127,179,208 (GRCm39) |
S188C |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,877,697 (GRCm39) |
I810V |
unknown |
Het |
Faim2 |
C |
T |
15: 99,419,132 (GRCm39) |
G79D |
probably benign |
Het |
Fpgt |
A |
T |
3: 154,793,040 (GRCm39) |
I329K |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,411,771 (GRCm39) |
T78A |
probably benign |
Het |
Gm15130 |
A |
G |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
Gm17087 |
A |
C |
17: 8,785,529 (GRCm39) |
I58R |
probably benign |
Het |
Grk2 |
T |
C |
19: 4,337,925 (GRCm39) |
D485G |
possibly damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,439,568 (GRCm39) |
S5539P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,310,335 (GRCm39) |
V3310M |
probably damaging |
Het |
Impdh1 |
A |
T |
6: 29,207,161 (GRCm39) |
L61Q |
probably damaging |
Het |
Inhbb |
A |
T |
1: 119,345,806 (GRCm39) |
V161D |
possibly damaging |
Het |
Kansl2 |
C |
T |
15: 98,427,306 (GRCm39) |
V192M |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,724,747 (GRCm39) |
K288E |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,385,290 (GRCm39) |
K110R |
probably damaging |
Het |
Lyrm9 |
C |
A |
11: 78,726,961 (GRCm39) |
H35N |
probably damaging |
Het |
Mab21l1 |
A |
G |
3: 55,690,533 (GRCm39) |
D40G |
probably benign |
Het |
Maml2 |
A |
C |
9: 13,532,915 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,401 (GRCm39) |
H69R |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,356,446 (GRCm39) |
A442E |
probably damaging |
Het |
Moxd2 |
A |
T |
6: 40,855,744 (GRCm39) |
L615Q |
probably damaging |
Het |
Msh2 |
G |
A |
17: 88,016,011 (GRCm39) |
G548S |
probably damaging |
Het |
Napg |
G |
A |
18: 63,128,054 (GRCm39) |
S279N |
possibly damaging |
Het |
Ncor1 |
A |
T |
11: 62,240,136 (GRCm39) |
|
probably null |
Het |
Nkiras2 |
G |
T |
11: 100,516,866 (GRCm39) |
R128L |
probably damaging |
Het |
Npy4r |
T |
C |
14: 33,868,664 (GRCm39) |
D208G |
probably benign |
Het |
Or10ak11 |
C |
T |
4: 118,687,413 (GRCm39) |
V75I |
probably benign |
Het |
Or52e2 |
A |
G |
7: 102,804,081 (GRCm39) |
V291A |
possibly damaging |
Het |
Or8b42 |
G |
T |
9: 38,341,627 (GRCm39) |
L16F |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,823,560 (GRCm39) |
T184A |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,228,000 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
C |
T |
17: 13,113,260 (GRCm39) |
E328K |
probably benign |
Het |
Pon1 |
T |
A |
6: 5,185,334 (GRCm39) |
L55F |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,142,683 (GRCm39) |
I312V |
probably benign |
Het |
Prkci |
G |
T |
3: 31,092,605 (GRCm39) |
D296Y |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,435,038 (GRCm39) |
H563R |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,546,236 (GRCm39) |
N266S |
probably benign |
Het |
Rapgef6 |
A |
T |
11: 54,530,609 (GRCm39) |
I589F |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,853 (GRCm39) |
S127T |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,110,975 (GRCm39) |
D277G |
probably benign |
Het |
Sipa1l3 |
G |
A |
7: 29,098,949 (GRCm39) |
A440V |
probably benign |
Het |
Slc13a2 |
A |
C |
11: 78,291,358 (GRCm39) |
I372S |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,700,182 (GRCm39) |
T117S |
probably benign |
Het |
Spns1 |
A |
T |
7: 125,969,495 (GRCm39) |
I528N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,736,021 (GRCm39) |
K191R |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,278,700 (GRCm39) |
|
probably null |
Het |
Tcn2 |
A |
T |
11: 3,877,546 (GRCm39) |
L34* |
probably null |
Het |
Tmem131l |
C |
T |
3: 83,829,553 (GRCm39) |
A1035T |
possibly damaging |
Het |
Trpc4 |
A |
G |
3: 54,223,263 (GRCm39) |
E733G |
probably damaging |
Het |
Uap1l1 |
A |
T |
2: 25,254,642 (GRCm39) |
H184Q |
possibly damaging |
Het |
Vil1 |
T |
G |
1: 74,455,192 (GRCm39) |
V48G |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,159,186 (GRCm39) |
H367Q |
probably damaging |
Het |
Wars2 |
A |
G |
3: 99,094,962 (GRCm39) |
T86A |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,064,107 (GRCm39) |
S1872P |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,065,381 (GRCm39) |
L1625P |
probably damaging |
Het |
Xaf1 |
A |
T |
11: 72,194,256 (GRCm39) |
M46L |
probably damaging |
Het |
Zfp1005 |
A |
G |
2: 150,109,855 (GRCm39) |
T182A |
unknown |
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 |
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'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
Posted On |
2017-03-31 |