Incidental Mutation 'R5994:Afg3l2'
ID |
481037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
044173-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5994 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67562140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 312
(C312S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: C312S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: C312S
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: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,647,862 (GRCm39) |
H1118L |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,840,592 (GRCm39) |
|
probably null |
Het |
Abcb5 |
A |
T |
12: 118,928,995 (GRCm39) |
|
probably null |
Het |
Adcy6 |
A |
T |
15: 98,491,545 (GRCm39) |
I1016N |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,478 (GRCm39) |
V89M |
probably damaging |
Het |
Arhgap21 |
C |
T |
2: 20,886,187 (GRCm39) |
G330D |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,715,935 (GRCm39) |
L195P |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,874,943 (GRCm39) |
I514T |
probably damaging |
Het |
Ctdsp2 |
G |
A |
10: 126,831,689 (GRCm39) |
|
probably benign |
Het |
Cyp4x1 |
T |
C |
4: 114,979,142 (GRCm39) |
I152V |
probably benign |
Het |
Dglucy |
G |
A |
12: 100,808,959 (GRCm39) |
R219Q |
probably benign |
Het |
Disp3 |
G |
T |
4: 148,338,741 (GRCm39) |
A810E |
possibly damaging |
Het |
Dtx4 |
T |
C |
19: 12,478,517 (GRCm39) |
Y22C |
probably damaging |
Het |
Edaradd |
A |
T |
13: 12,493,377 (GRCm39) |
I105N |
probably damaging |
Het |
Eepd1 |
C |
T |
9: 25,514,749 (GRCm39) |
P519S |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,430,294 (GRCm39) |
S155C |
probably benign |
Het |
Gm10134 |
A |
T |
2: 28,396,258 (GRCm39) |
E51V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golga7 |
T |
C |
8: 23,740,281 (GRCm39) |
E83G |
probably benign |
Het |
Gpr12 |
T |
C |
5: 146,520,241 (GRCm39) |
H227R |
probably damaging |
Het |
Hoxa2 |
T |
G |
6: 52,141,372 (GRCm39) |
S85R |
possibly damaging |
Het |
Hrnr |
T |
C |
3: 93,239,607 (GRCm39) |
S3282P |
unknown |
Het |
Ift74 |
C |
A |
4: 94,579,961 (GRCm39) |
T543K |
possibly damaging |
Het |
Klf10 |
C |
A |
15: 38,296,285 (GRCm39) |
R420L |
probably damaging |
Het |
Krt77 |
T |
A |
15: 101,771,290 (GRCm39) |
I338F |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,131,965 (GRCm39) |
S152C |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,234 (GRCm39) |
H270L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,196,481 (GRCm39) |
L504Q |
probably null |
Het |
Nckipsd |
A |
G |
9: 108,691,176 (GRCm39) |
Q366R |
probably benign |
Het |
Npy5r |
A |
T |
8: 67,134,751 (GRCm39) |
V14D |
probably benign |
Het |
Nrap |
T |
A |
19: 56,340,031 (GRCm39) |
R830* |
probably null |
Het |
Ogfrl1 |
A |
T |
1: 23,418,070 (GRCm39) |
Y103N |
probably damaging |
Het |
Or10g7 |
A |
T |
9: 39,905,519 (GRCm39) |
R138* |
probably null |
Het |
P2rx4 |
T |
A |
5: 122,863,142 (GRCm39) |
L232H |
probably damaging |
Het |
Pabpc2 |
A |
T |
18: 39,906,947 (GRCm39) |
T71S |
probably benign |
Het |
Paip2b |
C |
A |
6: 83,785,867 (GRCm39) |
S121I |
probably damaging |
Het |
Pofut1 |
C |
T |
2: 153,103,149 (GRCm39) |
T261I |
possibly damaging |
Het |
Ppp6c |
G |
T |
2: 39,101,004 (GRCm39) |
T46K |
possibly damaging |
Het |
Prkd2 |
C |
A |
7: 16,584,261 (GRCm39) |
H371Q |
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,501,725 (GRCm39) |
|
probably null |
Het |
Psd3 |
C |
T |
8: 68,172,620 (GRCm39) |
A894T |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,448,073 (GRCm39) |
|
probably null |
Het |
Pzp |
A |
T |
6: 128,468,560 (GRCm39) |
M989K |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,203,373 (GRCm39) |
S1159T |
probably benign |
Het |
Rapgefl1 |
T |
C |
11: 98,740,986 (GRCm39) |
F575L |
probably benign |
Het |
Rassf6 |
A |
G |
5: 90,765,627 (GRCm39) |
L28S |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,676,857 (GRCm39) |
K268N |
probably damaging |
Het |
Rela |
C |
T |
19: 5,697,092 (GRCm39) |
T433M |
possibly damaging |
Het |
Rnf103 |
T |
A |
6: 71,473,894 (GRCm39) |
S102R |
probably damaging |
Het |
Scarf2 |
A |
G |
16: 17,624,243 (GRCm39) |
N516S |
probably damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,429,403 (GRCm39) |
I241T |
probably damaging |
Het |
Septin7 |
T |
C |
9: 25,199,494 (GRCm39) |
I131T |
possibly damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,357,570 (GRCm39) |
F191L |
probably damaging |
Het |
Siglec15 |
C |
A |
18: 78,090,590 (GRCm39) |
C236F |
probably damaging |
Het |
Slc11a2 |
T |
C |
15: 100,295,562 (GRCm39) |
T520A |
probably benign |
Het |
Slc26a11 |
C |
A |
11: 119,270,738 (GRCm39) |
F553L |
probably benign |
Het |
Smchd1 |
G |
A |
17: 71,672,404 (GRCm39) |
P1596S |
possibly damaging |
Het |
Taar7b |
A |
G |
10: 23,876,246 (GRCm39) |
H137R |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,237 (GRCm39) |
C468* |
probably null |
Het |
Timp4 |
C |
T |
6: 115,224,315 (GRCm39) |
G118D |
probably damaging |
Het |
Tnnt3 |
A |
G |
7: 142,065,003 (GRCm39) |
K48E |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 137,862,475 (GRCm39) |
I255N |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,133,189 (GRCm39) |
|
probably null |
Het |
Tut7 |
T |
G |
13: 59,937,023 (GRCm39) |
Y806S |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,457,389 (GRCm39) |
Y283H |
probably damaging |
Het |
Ucp1 |
G |
T |
8: 84,020,567 (GRCm39) |
V126L |
possibly damaging |
Het |
Unc13b |
T |
A |
4: 43,172,596 (GRCm39) |
|
probably benign |
Het |
Vps13b |
T |
C |
15: 35,875,918 (GRCm39) |
S2768P |
probably damaging |
Het |
Zfp101 |
T |
A |
17: 33,599,936 (GRCm39) |
M607L |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,805,464 (GRCm39) |
V2527M |
possibly damaging |
Het |
Zfp503 |
T |
A |
14: 22,035,630 (GRCm39) |
T429S |
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 |
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'- TGAACAACGAGTTGACTAGGTC -3'
(R):5'- CACAGGAAACTCAGCAGCTG -3'
Sequencing Primer
(F):5'- CAACGAGTTGACTAGGTCATTAGTG -3'
(R):5'- CAGGAAACTCAGCAGCTGAACTG -3'
|
Posted On |
2017-06-26 |