Incidental Mutation 'R9371:Afg3l2'
ID |
709345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9371 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 67567262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 196
(R196L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025408
AA Change: R196L
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: R196L
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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 |
1810009J06Rik |
T |
C |
6: 40,943,663 (GRCm39) |
I109T |
probably damaging |
Het |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Abca8b |
T |
G |
11: 109,858,498 (GRCm39) |
Q568P |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,221,499 (GRCm39) |
T204A |
probably damaging |
Het |
Agps |
T |
A |
2: 75,742,024 (GRCm39) |
|
probably null |
Het |
Akap9 |
A |
G |
5: 4,011,852 (GRCm39) |
S852G |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,102 (GRCm39) |
D326G |
probably benign |
Het |
Cecr2 |
A |
G |
6: 120,739,229 (GRCm39) |
T1319A |
probably benign |
Het |
Cenpo |
C |
T |
12: 4,266,686 (GRCm39) |
V141I |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,631,845 (GRCm39) |
L220S |
possibly damaging |
Het |
Dicer1 |
A |
G |
12: 104,670,991 (GRCm39) |
L1017P |
probably damaging |
Het |
Ero1b |
T |
G |
13: 12,589,728 (GRCm39) |
C44G |
probably damaging |
Het |
Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
Fmo3 |
T |
A |
1: 162,796,281 (GRCm39) |
E97V |
probably benign |
Het |
Gcnt4 |
G |
T |
13: 97,083,634 (GRCm39) |
R310L |
possibly damaging |
Het |
Gm7298 |
A |
G |
6: 121,744,541 (GRCm39) |
I520V |
probably benign |
Het |
Gmpr |
T |
C |
13: 45,699,471 (GRCm39) |
L327P |
probably damaging |
Het |
Grid2 |
T |
A |
6: 64,677,506 (GRCm39) |
H108Q |
unknown |
Het |
Hmcn2 |
G |
T |
2: 31,301,917 (GRCm39) |
L2935F |
probably damaging |
Het |
Hnf1b |
T |
C |
11: 83,779,986 (GRCm39) |
S440P |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,543,395 (GRCm39) |
Y644N |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,924,646 (GRCm39) |
I1057T |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,906,001 (GRCm39) |
E269G |
probably damaging |
Het |
Igkv14-126 |
A |
G |
6: 67,873,352 (GRCm39) |
T27A |
possibly damaging |
Het |
Inhca |
A |
T |
9: 103,158,252 (GRCm39) |
Y103N |
probably benign |
Het |
Kcnj15 |
A |
G |
16: 95,097,556 (GRCm39) |
R393G |
unknown |
Het |
Lamb1 |
A |
G |
12: 31,348,863 (GRCm39) |
T632A |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,607,407 (GRCm39) |
L590P |
probably damaging |
Het |
Mrm3 |
A |
G |
11: 76,138,286 (GRCm39) |
T225A |
possibly damaging |
Het |
Mthfd1l |
A |
G |
10: 4,053,335 (GRCm39) |
T895A |
possibly damaging |
Het |
Myh1 |
G |
A |
11: 67,110,631 (GRCm39) |
|
probably null |
Het |
Naip2 |
T |
A |
13: 100,298,354 (GRCm39) |
K561* |
probably null |
Het |
Necab2 |
C |
T |
8: 120,173,923 (GRCm39) |
P44S |
probably benign |
Het |
Nrde2 |
T |
C |
12: 100,092,477 (GRCm39) |
S1126G |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or14j6 |
A |
G |
17: 38,214,962 (GRCm39) |
H175R |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,179,926 (GRCm39) |
V31E |
possibly damaging |
Het |
Pecam1 |
T |
G |
11: 106,581,947 (GRCm39) |
D333A |
probably benign |
Het |
Prss27 |
T |
C |
17: 24,257,141 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
T |
C |
3: 79,082,300 (GRCm39) |
E100G |
probably damaging |
Het |
Rnft2 |
A |
G |
5: 118,340,982 (GRCm39) |
F299L |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,562,152 (GRCm39) |
N105S |
possibly damaging |
Het |
S100a7l2 |
T |
C |
3: 90,997,698 (GRCm39) |
T6A |
unknown |
Het |
Scgb2b3 |
T |
A |
7: 31,059,642 (GRCm39) |
H44L |
probably benign |
Het |
Slc22a17 |
A |
T |
14: 55,147,139 (GRCm39) |
V53D |
possibly damaging |
Het |
Slc39a14 |
G |
A |
14: 70,547,569 (GRCm39) |
T298M |
probably benign |
Het |
Sorbs1 |
G |
A |
19: 40,315,324 (GRCm39) |
T496M |
probably damaging |
Het |
Spata31e1 |
G |
C |
13: 49,939,052 (GRCm39) |
T886S |
unknown |
Het |
Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,945,059 (GRCm39) |
T721A |
possibly damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmie |
A |
T |
9: 110,696,651 (GRCm39) |
C77S |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 43,999,369 (GRCm39) |
I381K |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,776,822 (GRCm39) |
A1526G |
unknown |
Het |
Vmn2r12 |
T |
A |
5: 109,234,452 (GRCm39) |
M587L |
probably benign |
Het |
Zeb2 |
G |
T |
2: 44,888,912 (GRCm39) |
H344Q |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,800 (GRCm39) |
I753T |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
Zfp677 |
C |
T |
17: 21,618,053 (GRCm39) |
T370M |
probably damaging |
Het |
Zfp947 |
G |
A |
17: 22,364,384 (GRCm39) |
T430I |
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 |
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 |
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'- GAAGCCTTTCCACACAGCAG -3'
(R):5'- ACCTGGATGACTGGCTGTAGAG -3'
Sequencing Primer
(F):5'- AGCAGCTGGTGTCAGTGC -3'
(R):5'- ATGACTGGCTGTAGAGACTGG -3'
|
Posted On |
2022-04-18 |