Incidental Mutation 'R5588:Afg3l2'
ID |
438925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
043268-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5588 (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 T
at 67573277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 175
(V175D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: V175D
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: V175D
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: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,949,417 (GRCm39) |
Q1105K |
possibly damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,190,732 (GRCm39) |
R325H |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,438,878 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,972,027 (GRCm39) |
L43P |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,256,937 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
T |
C |
12: 108,177,793 (GRCm39) |
Y320C |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,293,886 (GRCm39) |
L290* |
probably null |
Het |
Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
Dhx34 |
T |
C |
7: 15,932,825 (GRCm39) |
H1038R |
probably damaging |
Het |
Eea1 |
T |
C |
10: 95,859,772 (GRCm39) |
V686A |
probably benign |
Het |
Eif2b4 |
A |
T |
5: 31,349,517 (GRCm39) |
C101* |
probably null |
Het |
Eif4a3 |
A |
C |
11: 119,186,952 (GRCm39) |
S84A |
probably benign |
Het |
Elfn2 |
T |
C |
15: 78,558,076 (GRCm39) |
D157G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,173,103 (GRCm39) |
I2537F |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,659,248 (GRCm39) |
F350L |
probably damaging |
Het |
Fgd3 |
A |
T |
13: 49,440,786 (GRCm39) |
L215Q |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,372,783 (GRCm39) |
V73A |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,599,166 (GRCm39) |
T690S |
probably damaging |
Het |
Gask1a |
C |
T |
9: 121,794,247 (GRCm39) |
Q134* |
probably null |
Het |
Gm14418 |
A |
T |
2: 177,079,065 (GRCm39) |
I310K |
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,921,584 (GRCm39) |
N528K |
probably benign |
Het |
Gsap |
A |
C |
5: 21,456,147 (GRCm39) |
E417A |
probably damaging |
Het |
Kcnab1 |
A |
C |
3: 65,283,976 (GRCm39) |
D398A |
possibly damaging |
Het |
Kif5b |
T |
G |
18: 6,225,787 (GRCm39) |
N160T |
probably benign |
Het |
Lilrb4b |
G |
A |
10: 51,357,422 (GRCm39) |
R86Q |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,134,026 (GRCm39) |
|
probably null |
Het |
Mlph |
T |
C |
1: 90,859,321 (GRCm39) |
S219P |
possibly damaging |
Het |
Ncapg2 |
T |
C |
12: 116,376,697 (GRCm39) |
I95T |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,469,437 (GRCm39) |
I572N |
possibly damaging |
Het |
Nup155 |
G |
A |
15: 8,148,737 (GRCm39) |
|
probably null |
Het |
Olfml2a |
T |
C |
2: 38,850,047 (GRCm39) |
S588P |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,269,760 (GRCm39) |
R288G |
probably damaging |
Het |
Or4c12 |
T |
A |
2: 89,774,136 (GRCm39) |
T108S |
probably benign |
Het |
Or6c1 |
T |
G |
10: 129,517,705 (GRCm39) |
N301T |
possibly damaging |
Het |
Parva |
C |
A |
7: 112,159,269 (GRCm39) |
N142K |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,838,412 (GRCm39) |
S4678R |
unknown |
Het |
Pcnt |
T |
C |
10: 76,278,445 (GRCm39) |
D3G |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,374,367 (GRCm39) |
S1923A |
possibly damaging |
Het |
Per1 |
G |
A |
11: 68,998,453 (GRCm39) |
G1055D |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,249 (GRCm39) |
Q518* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,487,293 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
C |
T |
7: 28,992,709 (GRCm39) |
P137L |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,086,890 (GRCm39) |
S612T |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,993,893 (GRCm39) |
F642L |
probably benign |
Het |
Sec14l3 |
T |
C |
11: 4,016,138 (GRCm39) |
F19S |
probably damaging |
Het |
Skint8 |
A |
T |
4: 111,794,089 (GRCm39) |
M160L |
probably benign |
Het |
Slc19a3 |
G |
T |
1: 83,000,776 (GRCm39) |
Y80* |
probably null |
Het |
Slc37a1 |
T |
A |
17: 31,565,431 (GRCm39) |
W489R |
probably damaging |
Het |
Smc4 |
A |
G |
3: 68,933,190 (GRCm39) |
I604V |
probably benign |
Het |
Srprb |
G |
T |
9: 103,076,048 (GRCm39) |
Y796* |
probably null |
Het |
Tdrd7 |
T |
A |
4: 45,992,225 (GRCm39) |
S220T |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,067,215 (GRCm39) |
F2215S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,328,853 (GRCm39) |
A664V |
probably damaging |
Het |
Tnc |
T |
G |
4: 63,924,659 (GRCm39) |
D1013A |
possibly damaging |
Het |
Tpte |
T |
A |
8: 22,774,983 (GRCm39) |
Y18N |
possibly damaging |
Het |
Ubqlnl |
T |
A |
7: 103,798,339 (GRCm39) |
Q386L |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,428,512 (GRCm39) |
V43A |
possibly damaging |
Het |
Vmn2r130 |
A |
T |
17: 23,282,803 (GRCm39) |
Q161L |
probably benign |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,468,198 (GRCm39) |
D2785E |
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 |
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 |
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'- GTCCACAAAGCTGTCTCGTG -3'
(R):5'- GCCCACATAGCACAGATCATATTTC -3'
Sequencing Primer
(F):5'- ACAAAGCTGTCTCGTGGTCCC -3'
(R):5'- TAGCACAGATCATATTTCCACACAG -3'
|
Posted On |
2016-10-26 |