Incidental Mutation 'R8479:Afg3l2'
| ID |
657456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
067923-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67581986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 29
(G29D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025408
AA Change: G29D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: G29D
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,061 (GRCm39) |
H241Y |
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,689,123 (GRCm39) |
S52P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,892,932 (GRCm39) |
E641V |
possibly damaging |
Het |
| Atp6v1d |
T |
C |
12: 78,896,520 (GRCm39) |
T116A |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,403,596 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,574,628 (GRCm39) |
Y537* |
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,736,707 (GRCm39) |
A711V |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Crhbp |
A |
G |
13: 95,578,632 (GRCm39) |
V163A |
possibly damaging |
Het |
| Crmp1 |
C |
A |
5: 37,441,502 (GRCm39) |
P414Q |
possibly damaging |
Het |
| Cse1l |
G |
A |
2: 166,763,893 (GRCm39) |
E78K |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,735,573 (GRCm39) |
V35A |
probably damaging |
Het |
| Ddx1 |
T |
A |
12: 13,270,749 (GRCm39) |
N654I |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,315,022 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
C |
T |
5: 9,170,428 (GRCm39) |
V630I |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,248,363 (GRCm39) |
S305P |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 63,972,629 (GRCm39) |
S37T |
possibly damaging |
Het |
| Ess2 |
T |
C |
16: 17,728,805 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
G |
3: 79,419,862 (GRCm39) |
M138T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,617 (GRCm39) |
V17A |
probably benign |
Het |
| Gm7324 |
T |
C |
14: 43,952,220 (GRCm39) |
S288P |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,123,789 (GRCm39) |
A370V |
probably benign |
Het |
| H2-T13 |
G |
A |
17: 36,395,111 (GRCm39) |
A2V |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Ipo7 |
G |
A |
7: 109,638,452 (GRCm39) |
V240I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,977 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ly6g2 |
A |
G |
15: 75,089,626 (GRCm39) |
T45A |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,471,302 (GRCm39) |
S389C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,491,746 (GRCm39) |
|
probably null |
Het |
| Misp |
T |
C |
10: 79,663,750 (GRCm39) |
F575L |
possibly damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,071,051 (GRCm39) |
L136P |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,574,799 (GRCm39) |
T1128M |
possibly damaging |
Het |
| Nfyc |
A |
T |
4: 120,626,089 (GRCm39) |
V70E |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,608,747 (GRCm39) |
S452P |
probably benign |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,687,212 (GRCm39) |
C141R |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,447 (GRCm39) |
S73P |
probably damaging |
Het |
| Pros1 |
G |
T |
16: 62,728,102 (GRCm39) |
G269W |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,002,563 (GRCm39) |
S2006R |
possibly damaging |
Het |
| Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
| Rragd |
C |
T |
4: 33,018,734 (GRCm39) |
A379V |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,443 (GRCm39) |
|
probably null |
Het |
| Susd3 |
C |
T |
13: 49,390,952 (GRCm39) |
G113S |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,041,031 (GRCm39) |
M371K |
possibly damaging |
Het |
| Tnn |
C |
A |
1: 159,950,397 (GRCm39) |
R736S |
probably benign |
Het |
| Trio |
T |
C |
15: 27,901,286 (GRCm39) |
T323A |
probably benign |
Het |
| Ubqln1 |
G |
A |
13: 58,339,653 (GRCm39) |
P324S |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,152,004 (GRCm39) |
L1068P |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,735 (GRCm39) |
I627N |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,035,985 (GRCm39) |
T252K |
probably benign |
Het |
| Zfp62 |
T |
C |
11: 49,107,319 (GRCm39) |
I470T |
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 |
|
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 |
|
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'- TTTCCAGTGCCACGAAAGC -3'
(R):5'- TCCGAAGAACCGATAAGCTGC -3'
Sequencing Primer
(F):5'- GTGCCACGAAAGCCAACGAG -3'
(R):5'- ACCGATAAGCTGCGGAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation