Incidental Mutation 'R5722:Afg3l2'
ID |
452297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
043340-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5722 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67573269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 178
(Y178H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025408
AA Change: Y178H
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: Y178H
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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
Asic2 |
A |
T |
11: 81,858,806 (GRCm39) |
S69T |
probably benign |
Het |
Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
Cndp2 |
T |
A |
18: 84,686,203 (GRCm39) |
K461* |
probably null |
Het |
Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,988,533 (GRCm39) |
D535E |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACAAAGCTGTCTCGTGG -3'
(R):5'- GCCCACATAGCACAGATCATATTTC -3'
Sequencing Primer
(F):5'- AAAGCTGTCTCGTGGTCCCC -3'
(R):5'- TAGCACAGATCATATTTCCACACAG -3'
|
Posted On |
2017-01-03 |