Incidental Mutation 'R9222:Afg3l2'
ID |
699565 |
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 # |
R9222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67567257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 198
(T198A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025408
AA Change: T198A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: T198A
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (62/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
C |
A |
5: 138,560,562 (GRCm39) |
V278F |
unknown |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Actr5 |
T |
A |
2: 158,473,423 (GRCm39) |
N272K |
probably damaging |
Het |
Aloxe3 |
A |
G |
11: 69,023,903 (GRCm39) |
Y278C |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,783,270 (GRCm39) |
I226V |
|
Het |
Arap2 |
T |
A |
5: 62,828,421 (GRCm39) |
T917S |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,388,692 (GRCm39) |
L545P |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,133,472 (GRCm39) |
L438H |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,725,831 (GRCm39) |
Y105N |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,525,610 (GRCm39) |
F1406L |
unknown |
Het |
Celsr1 |
A |
G |
15: 85,815,471 (GRCm39) |
V1848A |
possibly damaging |
Het |
Chn1 |
T |
A |
2: 73,443,499 (GRCm39) |
N417I |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,230,579 (GRCm39) |
K1503R |
probably benign |
Het |
Cryz |
T |
C |
3: 154,317,203 (GRCm39) |
F141L |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,788,554 (GRCm39) |
V151A |
probably damaging |
Het |
Dpep2 |
T |
A |
8: 106,723,016 (GRCm39) |
H13L |
|
Het |
Eif2b5 |
C |
T |
16: 20,321,382 (GRCm39) |
R312* |
probably null |
Het |
Evc |
A |
T |
5: 37,477,650 (GRCm39) |
M343K |
probably benign |
Het |
Fbxw17 |
T |
A |
13: 50,577,367 (GRCm39) |
D86E |
probably damaging |
Het |
Fbxw9 |
T |
A |
8: 85,788,856 (GRCm39) |
L202Q |
probably damaging |
Het |
Fkbp9 |
G |
T |
6: 56,852,677 (GRCm39) |
V466F |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,805,087 (GRCm39) |
R1243Q |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,815,958 (GRCm39) |
T3897I |
probably benign |
Het |
Fut7 |
T |
C |
2: 25,315,191 (GRCm39) |
S150P |
possibly damaging |
Het |
Gstm5 |
A |
G |
3: 107,804,634 (GRCm39) |
I73V |
probably benign |
Het |
Hspb9 |
A |
G |
11: 100,604,769 (GRCm39) |
M32V |
possibly damaging |
Het |
Ift80 |
A |
G |
3: 68,825,894 (GRCm39) |
I482T |
possibly damaging |
Het |
Khk |
C |
T |
5: 31,079,141 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,747,324 (GRCm39) |
H3333Q |
unknown |
Het |
Lamc1 |
G |
T |
1: 153,119,087 (GRCm39) |
T844K |
probably damaging |
Het |
Luc7l2 |
A |
T |
6: 38,542,633 (GRCm39) |
I10L |
probably benign |
Het |
Mosmo |
T |
A |
7: 120,277,055 (GRCm39) |
I23N |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,881,919 (GRCm39) |
V711A |
probably benign |
Het |
Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
Nsun7 |
T |
C |
5: 66,418,366 (GRCm39) |
V32A |
probably benign |
Het |
Oog1 |
A |
G |
12: 87,653,016 (GRCm39) |
D104G |
probably damaging |
Het |
Or4b13 |
C |
T |
2: 90,082,820 (GRCm39) |
V171M |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,437,904 (GRCm39) |
D991G |
probably damaging |
Het |
Pds5a |
G |
A |
5: 65,805,281 (GRCm39) |
H522Y |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
Plk4 |
T |
A |
3: 40,760,990 (GRCm39) |
V440E |
possibly damaging |
Het |
Prkd2 |
A |
G |
7: 16,577,699 (GRCm39) |
I51V |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,402,106 (GRCm39) |
T1042A |
probably damaging |
Het |
Rsph6a |
C |
A |
7: 18,801,986 (GRCm39) |
T600N |
possibly damaging |
Het |
Scn11a |
A |
T |
9: 119,611,013 (GRCm39) |
V946E |
probably damaging |
Het |
Sec11a |
G |
A |
7: 80,565,634 (GRCm39) |
L170F |
probably damaging |
Het |
Slc15a5 |
A |
G |
6: 137,961,450 (GRCm39) |
I215T |
|
Het |
Slc1a1 |
A |
G |
19: 28,882,794 (GRCm39) |
I353V |
probably benign |
Het |
Smox |
A |
G |
2: 131,362,843 (GRCm39) |
E374G |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,050,633 (GRCm39) |
T727A |
possibly damaging |
Het |
Taar7d |
A |
C |
10: 23,904,124 (GRCm39) |
K335N |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,985 (GRCm39) |
S1557T |
probably benign |
Het |
Tbx19 |
C |
A |
1: 164,966,609 (GRCm39) |
V422L |
probably benign |
Het |
Tdrd1 |
G |
T |
19: 56,831,679 (GRCm39) |
V357F |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,231 (GRCm39) |
C606R |
probably damaging |
Het |
Tmcc1 |
C |
G |
6: 116,020,049 (GRCm39) |
G468R |
|
Het |
Tmem209 |
G |
A |
6: 30,506,838 (GRCm39) |
T93I |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,141,681 (GRCm39) |
V568A |
possibly damaging |
Het |
Tsbp1 |
A |
T |
17: 34,648,922 (GRCm39) |
I43L |
|
Het |
Tubgcp2 |
T |
C |
7: 139,587,965 (GRCm39) |
D220G |
probably damaging |
Het |
Vmn1r11 |
A |
G |
6: 57,114,992 (GRCm39) |
R219G |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,465,463 (GRCm39) |
S431P |
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 |
|
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'- GAAGCCTTTCCACACAGCAG -3'
(R):5'- ACCTGGATGACTGGCTGTAGAG -3'
Sequencing Primer
(F):5'- AGCAGCTGGTGTCAGTGC -3'
(R):5'- ATGACTGGCTGTAGAGACTGG -3'
|
Posted On |
2022-02-07 |