Incidental Mutation 'R6154:Afg3l2'
ID |
489487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044301-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6154 (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: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (70/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
G |
10: 106,959,210 (GRCm39) |
I79L |
probably benign |
Het |
Adam6a |
C |
T |
12: 113,509,292 (GRCm39) |
T555I |
probably benign |
Het |
Adap1 |
A |
G |
5: 139,293,531 (GRCm39) |
V60A |
possibly damaging |
Het |
Angpt1 |
T |
C |
15: 42,387,051 (GRCm39) |
E101G |
probably damaging |
Het |
Asxl2 |
T |
C |
12: 3,546,593 (GRCm39) |
V459A |
possibly damaging |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Camta2 |
G |
A |
11: 70,569,211 (GRCm39) |
A578V |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,818,609 (GRCm39) |
N316D |
possibly damaging |
Het |
Chrm3 |
T |
A |
13: 9,928,476 (GRCm39) |
M187L |
possibly damaging |
Het |
Clcn4 |
T |
C |
7: 7,294,481 (GRCm39) |
T367A |
probably benign |
Het |
Clcn7 |
T |
C |
17: 25,376,928 (GRCm39) |
S654P |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,387 (GRCm39) |
T2510S |
unknown |
Het |
Crisp4 |
T |
C |
1: 18,193,012 (GRCm39) |
E192G |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,711,370 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
G |
15: 28,204,177 (GRCm39) |
L18R |
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,746,164 (GRCm39) |
D3983A |
probably benign |
Het |
Dock5 |
C |
A |
14: 68,097,361 (GRCm39) |
V71L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,584,427 (GRCm39) |
V610A |
probably damaging |
Het |
Dynlrb2 |
A |
G |
8: 117,242,428 (GRCm39) |
Y86C |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,903,799 (GRCm39) |
I267V |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,169,178 (GRCm39) |
Y575C |
probably damaging |
Het |
Gm8094 |
T |
A |
14: 42,934,020 (GRCm39) |
D24V |
probably benign |
Het |
Grina |
T |
C |
15: 76,133,087 (GRCm39) |
I244T |
possibly damaging |
Het |
Haus6 |
A |
G |
4: 86,501,993 (GRCm39) |
L626P |
possibly damaging |
Het |
Hexd |
A |
T |
11: 121,112,097 (GRCm39) |
H439L |
probably benign |
Het |
Ifna12 |
A |
T |
4: 88,521,531 (GRCm39) |
C5* |
probably null |
Het |
Igf2bp2 |
G |
T |
16: 21,894,843 (GRCm39) |
S300* |
probably null |
Het |
Ighv6-5 |
T |
C |
12: 114,380,362 (GRCm39) |
R71G |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,969 (GRCm39) |
V2333A |
probably benign |
Het |
Lrrn4cl |
T |
C |
19: 8,829,252 (GRCm39) |
S77P |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,500,927 (GRCm39) |
V831A |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,207,674 (GRCm39) |
I40N |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
Ncbp3 |
T |
A |
11: 72,940,700 (GRCm39) |
Y67N |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,534,104 (GRCm39) |
I349F |
possibly damaging |
Het |
Nek11 |
A |
T |
9: 105,200,368 (GRCm39) |
*81K |
probably null |
Het |
Nrip1 |
A |
G |
16: 76,090,718 (GRCm39) |
Y280H |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,476,788 (GRCm39) |
D722G |
probably benign |
Het |
Or10ag55-ps1 |
T |
G |
2: 87,139,902 (GRCm39) |
S256R |
probably benign |
Het |
Or2m12 |
A |
T |
16: 19,105,181 (GRCm39) |
I104K |
probably damaging |
Het |
Or4c29 |
A |
G |
2: 88,740,734 (GRCm39) |
M1T |
probably null |
Het |
Or5i1 |
A |
G |
2: 87,613,100 (GRCm39) |
D72G |
possibly damaging |
Het |
Or6c7 |
C |
T |
10: 129,323,545 (GRCm39) |
T222I |
probably damaging |
Het |
Pcdhb6 |
A |
G |
18: 37,467,966 (GRCm39) |
I296V |
probably benign |
Het |
Pcnx2 |
G |
T |
8: 126,489,552 (GRCm39) |
L1681M |
probably damaging |
Het |
Pdlim5 |
T |
C |
3: 141,983,674 (GRCm39) |
R360G |
possibly damaging |
Het |
Peli2 |
C |
T |
14: 48,488,051 (GRCm39) |
Q81* |
probably null |
Het |
Pitpnb |
C |
T |
5: 111,486,263 (GRCm39) |
Q56* |
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,754,603 (GRCm39) |
S215P |
possibly damaging |
Het |
Prrt3 |
A |
G |
6: 113,471,989 (GRCm39) |
Y728H |
probably damaging |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,516,542 (GRCm39) |
H1277R |
possibly damaging |
Het |
Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
Sirt6 |
C |
T |
10: 81,462,339 (GRCm39) |
G20D |
probably damaging |
Het |
Sit1 |
C |
A |
4: 43,482,981 (GRCm39) |
R89S |
probably benign |
Het |
Slc7a12 |
A |
G |
3: 14,546,094 (GRCm39) |
R80G |
probably damaging |
Het |
Smok3c |
T |
A |
5: 138,062,747 (GRCm39) |
M78K |
probably benign |
Het |
Stk10 |
T |
A |
11: 32,553,654 (GRCm39) |
|
probably null |
Het |
Tada2b |
A |
G |
5: 36,634,008 (GRCm39) |
V190A |
probably damaging |
Het |
Tnk1 |
C |
T |
11: 69,747,780 (GRCm39) |
V41I |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,299,567 (GRCm39) |
V1146E |
probably benign |
Het |
Trappc9 |
T |
C |
15: 72,929,930 (GRCm39) |
D142G |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,965,178 (GRCm39) |
Y1558H |
probably damaging |
Het |
Unc5c |
C |
A |
3: 141,383,914 (GRCm39) |
S97R |
probably damaging |
Het |
Vmn1r172 |
T |
C |
7: 23,359,583 (GRCm39) |
I156T |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,821,921 (GRCm39) |
M588K |
possibly damaging |
Het |
Vps26a |
T |
G |
10: 62,304,119 (GRCm39) |
E117D |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,842,627 (GRCm39) |
|
probably benign |
Het |
Zfp534 |
C |
A |
4: 147,759,145 (GRCm39) |
R508I |
probably benign |
Het |
Zp3r |
C |
T |
1: 130,526,642 (GRCm39) |
C187Y |
probably 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 |
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 |
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 |
2017-10-10 |