Incidental Mutation 'R6026:Afg3l2'
ID |
480079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044198-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6026 (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 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: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
97% (73/75) |
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 |
1810065E05Rik |
A |
G |
11: 58,316,581 (GRCm39) |
D187G |
probably benign |
Het |
4933421I07Rik |
A |
T |
7: 42,095,708 (GRCm39) |
M180K |
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,190 (GRCm39) |
H345R |
possibly damaging |
Het |
Abcc8 |
T |
C |
7: 45,816,424 (GRCm39) |
T239A |
probably benign |
Het |
Abcf3 |
A |
G |
16: 20,369,320 (GRCm39) |
E234G |
probably damaging |
Het |
Actrt2 |
T |
C |
4: 154,751,047 (GRCm39) |
D363G |
possibly damaging |
Het |
Adam1a |
A |
T |
5: 121,657,425 (GRCm39) |
C623S |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Barhl2 |
T |
A |
5: 106,603,474 (GRCm39) |
K228N |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,162,115 (GRCm39) |
H153R |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,332,601 (GRCm39) |
D480G |
probably damaging |
Het |
Cct3 |
T |
C |
3: 88,219,029 (GRCm39) |
I182T |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,740,646 (GRCm39) |
N1208D |
probably benign |
Het |
Col26a1 |
A |
G |
5: 136,876,354 (GRCm39) |
C89R |
probably damaging |
Het |
Cops4 |
T |
A |
5: 100,690,194 (GRCm39) |
|
probably benign |
Het |
Cpox |
T |
A |
16: 58,491,298 (GRCm39) |
W170R |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,875,560 (GRCm39) |
K656E |
probably benign |
Het |
Eif4e |
T |
C |
3: 138,256,661 (GRCm39) |
I66T |
probably damaging |
Het |
Ercc3 |
T |
C |
18: 32,378,974 (GRCm39) |
|
probably null |
Het |
Esp38 |
G |
A |
17: 40,266,032 (GRCm39) |
C47Y |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,528,731 (GRCm39) |
V380A |
possibly damaging |
Het |
Fbxw7 |
T |
A |
3: 84,859,948 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
G |
5: 73,257,340 (GRCm39) |
R736S |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,513,748 (GRCm39) |
V62M |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,368,454 (GRCm39) |
T1045A |
probably damaging |
Het |
Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
Gm19410 |
G |
A |
8: 36,279,580 (GRCm39) |
S1815N |
probably benign |
Het |
Gm28051 |
A |
T |
12: 102,686,444 (GRCm39) |
L72Q |
unknown |
Het |
Gm44511 |
T |
C |
6: 128,797,240 (GRCm39) |
T83A |
possibly damaging |
Het |
Grk2 |
C |
T |
19: 4,340,811 (GRCm39) |
V246I |
probably damaging |
Het |
Grm7 |
C |
T |
6: 111,478,500 (GRCm39) |
Q62* |
probably null |
Het |
Gsdmc3 |
T |
A |
15: 63,738,600 (GRCm39) |
E154V |
probably damaging |
Het |
Gstz1 |
A |
C |
12: 87,206,948 (GRCm39) |
Q114P |
probably damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hhip |
A |
T |
8: 80,699,069 (GRCm39) |
C666S |
probably damaging |
Het |
Hif1a |
A |
C |
12: 73,979,055 (GRCm39) |
H193P |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,449,398 (GRCm39) |
T385A |
probably benign |
Het |
Ihh |
T |
C |
1: 74,985,886 (GRCm39) |
T200A |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,997,478 (GRCm39) |
V218E |
probably damaging |
Het |
Lct |
A |
G |
1: 128,227,755 (GRCm39) |
I1246T |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,118,426 (GRCm39) |
V217A |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,409,272 (GRCm39) |
D1616N |
probably damaging |
Het |
Lrrfip2 |
A |
T |
9: 111,043,239 (GRCm39) |
T165S |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,356,957 (GRCm39) |
Y272H |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,571,154 (GRCm39) |
M455T |
unknown |
Het |
Ncapg2 |
A |
T |
12: 116,406,641 (GRCm39) |
D939V |
possibly damaging |
Het |
Ncbp3 |
T |
C |
11: 72,958,548 (GRCm39) |
V236A |
probably benign |
Het |
Obscn |
T |
A |
11: 58,957,916 (GRCm39) |
T3595S |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,797 (GRCm39) |
S545P |
possibly damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,914 (GRCm39) |
I48F |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pdzrn3 |
A |
C |
6: 101,339,105 (GRCm39) |
C269G |
probably benign |
Het |
Pear1 |
T |
A |
3: 87,664,220 (GRCm39) |
N278Y |
probably damaging |
Het |
Phb1 |
C |
T |
11: 95,562,245 (GRCm39) |
R41* |
probably null |
Het |
Pikfyve |
T |
C |
1: 65,311,856 (GRCm39) |
V2031A |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,122 (GRCm39) |
I1465V |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,167,113 (GRCm39) |
N776S |
probably benign |
Het |
Prkce |
A |
T |
17: 86,800,658 (GRCm39) |
E358V |
probably benign |
Het |
Prl5a1 |
A |
T |
13: 28,335,247 (GRCm39) |
I219F |
probably benign |
Het |
Prss3 |
T |
C |
6: 41,354,488 (GRCm39) |
|
probably null |
Het |
Ptprc |
A |
T |
1: 137,998,987 (GRCm39) |
M858K |
probably damaging |
Het |
Retreg3 |
T |
C |
11: 100,997,226 (GRCm39) |
T85A |
probably damaging |
Het |
Rfc2 |
T |
A |
5: 134,624,185 (GRCm39) |
C265S |
probably damaging |
Het |
Smarcd1 |
G |
T |
15: 99,603,619 (GRCm39) |
V256L |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,771,142 (GRCm39) |
F574L |
probably damaging |
Het |
Tcirg1 |
T |
C |
19: 3,947,487 (GRCm39) |
H624R |
probably benign |
Het |
Tcstv1a |
C |
A |
13: 120,355,987 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,963,556 (GRCm39) |
|
probably null |
Het |
Tomm40 |
A |
G |
7: 19,444,889 (GRCm39) |
V164A |
probably benign |
Het |
Txnl4a |
T |
C |
18: 80,250,482 (GRCm39) |
V26A |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,484,336 (GRCm39) |
F229L |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,604,541 (GRCm39) |
T1785A |
probably benign |
Het |
Vmn1r22 |
T |
A |
6: 57,877,390 (GRCm39) |
I196L |
probably benign |
Het |
Zfp652 |
T |
G |
11: 95,640,788 (GRCm39) |
C238G |
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 |
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 |
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 |
2017-06-26 |