Incidental Mutation 'R5974:Afg3l2'
| ID |
471656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l2
|
| Ensembl Gene |
ENSMUSG00000024527 |
| Gene Name |
AFG3-like AAA ATPase 2 |
| Synonyms |
Emv66, 2310036I02Rik, par |
| MMRRC Submission |
044157-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67554329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 458
(L458M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
| AlphaFold |
Q8JZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: L458M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: L458M
| 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 |
0.3865 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,002,742 (GRCm39) |
L261P |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,499,317 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,662 (GRCm39) |
N133K |
probably benign |
Het |
| Clip4 |
A |
T |
17: 72,138,242 (GRCm39) |
H433L |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,183,480 (GRCm39) |
M62K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,589,409 (GRCm39) |
S1049P |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,258,683 (GRCm39) |
T358I |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,449,753 (GRCm39) |
D645E |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,817,067 (GRCm39) |
W585L |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,451,259 (GRCm39) |
E114* |
probably null |
Het |
| Daam2 |
T |
A |
17: 49,771,501 (GRCm39) |
S882C |
probably damaging |
Het |
| Des |
T |
A |
1: 75,339,628 (GRCm39) |
S329T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,313,290 (GRCm39) |
D994G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,871,261 (GRCm39) |
V547A |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,207,484 (GRCm39) |
A643T |
probably damaging |
Het |
| Ect2 |
C |
A |
3: 27,199,112 (GRCm39) |
E194* |
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,317,713 (GRCm39) |
I77V |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,917,824 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
G |
18: 58,181,992 (GRCm39) |
D1803A |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,040,631 (GRCm39) |
E858G |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,912 (GRCm39) |
R284Q |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,793,657 (GRCm39) |
I425N |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,090 (GRCm39) |
Y241* |
probably null |
Het |
| Galr2 |
A |
G |
11: 116,173,852 (GRCm39) |
S161G |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,094,065 (GRCm39) |
L14I |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,677 (GRCm39) |
D220E |
probably benign |
Het |
| Hdac11 |
G |
A |
6: 91,150,196 (GRCm39) |
V332I |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,699,953 (GRCm39) |
|
probably null |
Het |
| Kif16b |
C |
T |
2: 142,699,301 (GRCm39) |
G93D |
probably damaging |
Het |
| Krtap11-1 |
C |
A |
16: 89,367,656 (GRCm39) |
C121F |
possibly damaging |
Het |
| Lacc1 |
T |
C |
14: 77,272,517 (GRCm39) |
Q93R |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,722 (GRCm39) |
F1250S |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,172,202 (GRCm39) |
E332G |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,289,892 (GRCm39) |
C3649F |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,134,857 (GRCm39) |
V1653A |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,379,653 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,650,920 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
A |
3: 156,774,923 (GRCm39) |
V213E |
probably damaging |
Het |
| Nlk |
T |
G |
11: 78,481,792 (GRCm39) |
Q223P |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,340,848 (GRCm39) |
H162R |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,400 (GRCm39) |
S63P |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,967,373 (GRCm39) |
D477Y |
probably damaging |
Het |
| Or12d12 |
A |
T |
17: 37,611,229 (GRCm39) |
I28N |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,261,200 (GRCm39) |
S263P |
probably damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,225 (GRCm39) |
S299G |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,134,617 (GRCm39) |
T280A |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,127,194 (GRCm39) |
V109E |
possibly damaging |
Het |
| Pira2 |
A |
C |
7: 3,844,576 (GRCm39) |
V485G |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,847,618 (GRCm39) |
L133P |
probably damaging |
Het |
| Pros1 |
A |
C |
16: 62,721,030 (GRCm39) |
N195T |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,696,977 (GRCm39) |
K289E |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,214,084 (GRCm39) |
Y475* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,729,397 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
T |
A |
10: 21,872,148 (GRCm39) |
N241K |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,876,516 (GRCm39) |
S146T |
probably benign |
Het |
| Sox30 |
G |
T |
11: 45,871,900 (GRCm39) |
D252Y |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,182,012 (GRCm39) |
Y1002C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,465,084 (GRCm39) |
D271G |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,178 (GRCm39) |
T306A |
probably benign |
Het |
| Tmem252 |
A |
G |
19: 24,651,632 (GRCm39) |
E67G |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,904,681 (GRCm39) |
F1149V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,148,389 (GRCm39) |
|
probably null |
Het |
| Unc50 |
A |
G |
1: 37,476,290 (GRCm39) |
D150G |
probably benign |
Het |
| Ywhag |
A |
C |
5: 135,940,483 (GRCm39) |
L37R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,862 (GRCm39) |
L123P |
probably benign |
Het |
| Zfp418 |
G |
T |
7: 7,185,199 (GRCm39) |
Q387H |
possibly damaging |
Het |
| Zfp882 |
T |
C |
8: 72,666,999 (GRCm39) |
F53L |
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 |
|
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 |
|
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'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'
Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation