Incidental Mutation 'R9017:Afg3l2'
ID |
686104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
068847-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9017 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67542550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 632
(V632A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: V632A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: V632A
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 |
0.3414 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (65/65) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,553,211 (GRCm39) |
T629A |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,987,487 (GRCm39) |
E2924K |
probably damaging |
Het |
Ampd1 |
A |
G |
3: 102,995,786 (GRCm39) |
Y232C |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,275,841 (GRCm39) |
N130K |
probably benign |
Het |
Cdh15 |
T |
C |
8: 123,584,256 (GRCm39) |
|
probably null |
Het |
Cep70 |
T |
C |
9: 99,181,829 (GRCm39) |
I613T |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,651,883 (GRCm39) |
V3056I |
probably benign |
Het |
Chrna2 |
T |
C |
14: 66,386,282 (GRCm39) |
F143L |
probably benign |
Het |
Cmya5 |
C |
T |
13: 93,228,572 (GRCm39) |
R2172H |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,657,898 (GRCm39) |
E424G |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,880,477 (GRCm39) |
E237G |
probably benign |
Het |
Ctnnd2 |
G |
A |
15: 30,881,316 (GRCm39) |
C732Y |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,299,411 (GRCm39) |
N264S |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,743,349 (GRCm39) |
S1064G |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,176,968 (GRCm39) |
Y360N |
probably damaging |
Het |
E2f3 |
T |
G |
13: 30,097,478 (GRCm39) |
D295A |
probably damaging |
Het |
Eef2 |
T |
C |
10: 81,015,487 (GRCm39) |
L336P |
possibly damaging |
Het |
Fanca |
A |
G |
8: 124,035,307 (GRCm39) |
S213P |
possibly damaging |
Het |
Fpgt |
A |
T |
3: 154,792,903 (GRCm39) |
S375T |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,416,206 (GRCm39) |
V222I |
probably benign |
Het |
Gm5930 |
A |
T |
14: 44,568,858 (GRCm39) |
Y255N |
possibly damaging |
Het |
Gpr55 |
T |
C |
1: 85,868,624 (GRCm39) |
N319S |
probably benign |
Het |
Grik2 |
T |
A |
10: 48,989,555 (GRCm39) |
I825F |
possibly damaging |
Het |
Hcn4 |
T |
C |
9: 58,731,482 (GRCm39) |
S230P |
unknown |
Het |
Kansl3 |
T |
C |
1: 36,393,861 (GRCm39) |
I222V |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,927,203 (GRCm39) |
S822P |
probably benign |
Het |
Kremen2 |
T |
A |
17: 23,964,737 (GRCm39) |
|
probably benign |
Het |
Krt71 |
G |
T |
15: 101,651,100 (GRCm39) |
R128S |
possibly damaging |
Het |
Lrp4 |
A |
T |
2: 91,324,397 (GRCm39) |
N1244I |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,244 (GRCm39) |
S600G |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,216,711 (GRCm39) |
C167S |
probably damaging |
Het |
Mrps17 |
T |
C |
5: 129,793,857 (GRCm39) |
V17A |
probably damaging |
Het |
Muc20 |
A |
T |
16: 32,614,840 (GRCm39) |
L179Q |
unknown |
Het |
Or13g1 |
A |
T |
7: 85,955,957 (GRCm39) |
Y121* |
probably null |
Het |
Or13p8 |
T |
A |
4: 118,583,565 (GRCm39) |
F40L |
probably benign |
Het |
Or4c29 |
G |
T |
2: 88,739,951 (GRCm39) |
T262K |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,214,431 (GRCm39) |
F63L |
probably benign |
Het |
Pde3b |
C |
T |
7: 114,015,695 (GRCm39) |
Q304* |
probably null |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Plekhg4 |
A |
G |
8: 106,105,332 (GRCm39) |
E599G |
possibly damaging |
Het |
Ppargc1a |
C |
A |
5: 51,630,251 (GRCm39) |
R622L |
unknown |
Het |
Ppip5k2 |
A |
G |
1: 97,655,139 (GRCm39) |
L879P |
probably damaging |
Het |
Prepl |
C |
T |
17: 85,376,366 (GRCm39) |
V563M |
possibly damaging |
Het |
Prom1 |
G |
T |
5: 44,204,870 (GRCm39) |
D201E |
probably damaging |
Het |
Psmd1 |
T |
A |
1: 86,054,231 (GRCm39) |
D723E |
probably damaging |
Het |
Sall2 |
A |
T |
14: 52,550,719 (GRCm39) |
N825K |
possibly damaging |
Het |
Sds |
A |
T |
5: 120,618,655 (GRCm39) |
M70L |
probably benign |
Het |
Sema4c |
C |
T |
1: 36,592,079 (GRCm39) |
R256H |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,070,545 (GRCm39) |
Y100C |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,138,588 (GRCm39) |
I452F |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,062,395 (GRCm39) |
I162V |
possibly damaging |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Tenm3 |
T |
A |
8: 48,707,668 (GRCm39) |
N1710I |
probably damaging |
Het |
Tmem115 |
T |
A |
9: 107,411,880 (GRCm39) |
M68K |
probably benign |
Het |
Tmem132d |
T |
C |
5: 127,866,936 (GRCm39) |
I655V |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,346,316 (GRCm39) |
I69V |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Trim9 |
A |
G |
12: 70,314,013 (GRCm39) |
M544T |
probably benign |
Het |
Ttll3 |
G |
A |
6: 113,389,850 (GRCm39) |
R745H |
probably benign |
Het |
Ttn |
G |
T |
2: 76,737,931 (GRCm39) |
L4249I |
unknown |
Het |
Unc79 |
G |
A |
12: 103,074,874 (GRCm39) |
|
probably null |
Het |
Vmn1r196 |
T |
C |
13: 22,478,254 (GRCm39) |
C298R |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
Zfp853 |
A |
G |
5: 143,274,243 (GRCm39) |
L474P |
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 |
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 |
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'- GATCTAAGACTCTCTGCTGCAG -3'
(R):5'- TGTGCTGCCCTTTCATCAGG -3'
Sequencing Primer
(F):5'- TGCTGCAGAAACCTTACTCAGTG -3'
(R):5'- CCTTTCATCAGGGAGTGTCCG -3'
|
Posted On |
2021-10-11 |