Incidental Mutation 'R9381:Afg3l2'
ID |
710071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l2
|
Ensembl Gene |
ENSMUSG00000024527 |
Gene Name |
AFG3-like AAA ATPase 2 |
Synonyms |
Emv66, 2310036I02Rik, par |
MMRRC Submission |
068992-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9381 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67537834-67582242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 67575451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 74
(E74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025408]
|
AlphaFold |
Q8JZQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025408
AA Change: E74A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025408 Gene: ENSMUSG00000024527 AA Change: E74A
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: 99.1%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
9930111J21Rik1 |
T |
A |
11: 48,839,204 (GRCm39) |
K461M |
probably damaging |
Het |
Abhd16b |
A |
G |
2: 181,135,881 (GRCm39) |
Y261C |
probably damaging |
Het |
Acadl |
T |
C |
1: 66,893,805 (GRCm39) |
T117A |
probably benign |
Het |
Adamts15 |
A |
G |
9: 30,813,816 (GRCm39) |
V783A |
probably damaging |
Het |
Aff1 |
A |
T |
5: 103,981,733 (GRCm39) |
Q624L |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,523,417 (GRCm39) |
E238G |
probably benign |
Het |
Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
Anks1 |
A |
T |
17: 28,272,979 (GRCm39) |
Y958F |
probably damaging |
Het |
Arhgef28 |
C |
A |
13: 98,036,269 (GRCm39) |
Q1663H |
possibly damaging |
Het |
Asb3 |
T |
C |
11: 31,051,088 (GRCm39) |
L475P |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,162,726 (GRCm39) |
M430L |
probably benign |
Het |
Bco1 |
T |
A |
8: 117,837,631 (GRCm39) |
V164E |
probably benign |
Het |
Bhlhe40 |
T |
C |
6: 108,642,244 (GRCm39) |
L396P |
probably damaging |
Het |
C5ar2 |
A |
T |
7: 15,970,887 (GRCm39) |
S347T |
probably damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,969,048 (GRCm39) |
S1212P |
probably damaging |
Het |
Ceacam3 |
C |
G |
7: 16,893,715 (GRCm39) |
Q409E |
|
Het |
Ces3b |
T |
C |
8: 105,811,670 (GRCm39) |
V62A |
probably benign |
Het |
Dalrd3 |
A |
G |
9: 108,448,242 (GRCm39) |
|
probably null |
Het |
Ddhd2 |
G |
T |
8: 26,239,849 (GRCm39) |
A288E |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,914,219 (GRCm39) |
M4435L |
probably benign |
Het |
Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
E030025P04Rik |
A |
G |
11: 109,030,384 (GRCm39) |
Y168H |
unknown |
Het |
Elavl2 |
T |
C |
4: 91,197,009 (GRCm39) |
N23S |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,959,462 (GRCm39) |
V822A |
probably damaging |
Het |
Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
Exoc5 |
C |
T |
14: 49,275,194 (GRCm39) |
S202N |
probably benign |
Het |
Fryl |
T |
C |
5: 73,240,637 (GRCm39) |
D1321G |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,750,007 (GRCm39) |
T394I |
unknown |
Het |
Gm28363 |
T |
A |
1: 117,654,615 (GRCm39) |
S85T |
probably damaging |
Het |
H2-Q1 |
A |
G |
17: 35,542,138 (GRCm39) |
T237A |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,472,492 (GRCm39) |
I2743F |
possibly damaging |
Het |
Hs3st3b1 |
C |
T |
11: 63,812,692 (GRCm39) |
G8S |
probably benign |
Het |
Ighv1-16 |
T |
C |
12: 114,629,598 (GRCm39) |
N63S |
probably benign |
Het |
Il20rb |
A |
G |
9: 100,343,541 (GRCm39) |
F238L |
possibly damaging |
Het |
Il31ra |
A |
T |
13: 112,668,253 (GRCm39) |
F439I |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Kat2a |
T |
C |
11: 100,602,692 (GRCm39) |
Q132R |
possibly damaging |
Het |
Kcnq2 |
A |
G |
2: 180,751,562 (GRCm39) |
I278T |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,044,479 (GRCm39) |
V126A |
|
Het |
Lama2 |
T |
A |
10: 27,064,023 (GRCm39) |
R1285* |
probably null |
Het |
Larp1 |
A |
G |
11: 57,949,532 (GRCm39) |
T1054A |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,441,337 (GRCm39) |
M262K |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,074 (GRCm39) |
I460V |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,696,434 (GRCm39) |
N1606I |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,597,304 (GRCm39) |
N730S |
possibly damaging |
Het |
Mpzl1 |
T |
C |
1: 165,429,323 (GRCm39) |
H236R |
probably damaging |
Het |
Mrps31 |
G |
A |
8: 22,904,752 (GRCm39) |
R47K |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,250,239 (GRCm39) |
I218K |
probably benign |
Het |
Npy2r |
T |
C |
3: 82,448,356 (GRCm39) |
T140A |
probably damaging |
Het |
Nr2e1 |
T |
A |
10: 42,439,468 (GRCm39) |
L350F |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or51d1 |
A |
T |
7: 102,347,654 (GRCm39) |
M70L |
probably damaging |
Het |
Or5b124 |
G |
T |
19: 13,610,647 (GRCm39) |
M57I |
probably damaging |
Het |
Or5p50 |
A |
C |
7: 107,421,812 (GRCm39) |
L288W |
probably damaging |
Het |
Pabpc1l |
G |
T |
2: 163,867,423 (GRCm39) |
C8F |
probably benign |
Het |
Pafah1b3 |
A |
C |
7: 24,994,699 (GRCm39) |
F172V |
probably benign |
Het |
Pcdhga6 |
A |
T |
18: 37,841,371 (GRCm39) |
T364S |
probably damaging |
Het |
Ppp3cc |
T |
A |
14: 70,462,441 (GRCm39) |
M399L |
probably benign |
Het |
Prpsap2 |
T |
C |
11: 61,635,782 (GRCm39) |
I173V |
probably benign |
Het |
Rabggtb |
A |
T |
3: 153,613,817 (GRCm39) |
W252R |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,540,959 (GRCm39) |
F351L |
unknown |
Het |
Rasd2 |
T |
C |
8: 75,948,589 (GRCm39) |
S172P |
probably damaging |
Het |
Rbm15 |
T |
C |
3: 107,238,752 (GRCm39) |
T549A |
probably benign |
Het |
Reln |
A |
G |
5: 22,549,202 (GRCm39) |
Y69H |
possibly damaging |
Het |
Samd3 |
T |
A |
10: 26,147,643 (GRCm39) |
N439K |
probably benign |
Het |
Scap |
C |
A |
9: 110,207,839 (GRCm39) |
A516D |
probably damaging |
Het |
Selplg |
T |
C |
5: 113,957,917 (GRCm39) |
T130A |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,949,063 (GRCm39) |
M697V |
probably benign |
Het |
Slc22a29 |
A |
G |
19: 8,195,841 (GRCm39) |
I66T |
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,711,490 (GRCm39) |
I74V |
probably benign |
Het |
Snrnp48 |
A |
C |
13: 38,404,667 (GRCm39) |
I241L |
probably damaging |
Het |
Sptb |
C |
T |
12: 76,634,292 (GRCm39) |
E2140K |
probably benign |
Het |
Strip2 |
T |
C |
6: 29,927,333 (GRCm39) |
S192P |
probably benign |
Het |
Svil |
A |
T |
18: 5,099,013 (GRCm39) |
R1643S |
probably benign |
Het |
Tbc1d2b |
A |
G |
9: 90,101,139 (GRCm39) |
V617A |
possibly damaging |
Het |
Tmem102 |
T |
C |
11: 69,695,141 (GRCm39) |
E277G |
probably benign |
Het |
Tmtc4 |
T |
G |
14: 123,163,441 (GRCm39) |
I648L |
probably benign |
Het |
Togaram1 |
T |
C |
12: 65,014,204 (GRCm39) |
V485A |
probably damaging |
Het |
Trim43b |
T |
C |
9: 88,969,642 (GRCm39) |
I269V |
probably benign |
Het |
Trpm2 |
T |
A |
10: 77,747,191 (GRCm39) |
I1436F |
possibly damaging |
Het |
Ube2d3 |
A |
T |
3: 135,168,722 (GRCm39) |
I106F |
possibly damaging |
Het |
Vdr |
G |
A |
15: 97,755,333 (GRCm39) |
R397C |
probably damaging |
Het |
Vps50 |
T |
C |
6: 3,592,433 (GRCm39) |
S689P |
probably benign |
Het |
Wipf2 |
A |
G |
11: 98,787,068 (GRCm39) |
T366A |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
Zfyve28 |
G |
A |
5: 34,373,932 (GRCm39) |
T694I |
probably benign |
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 |
R9371:Afg3l2
|
UTSW |
18 |
67,567,262 (GRCm39) |
missense |
possibly damaging |
0.84 |
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'- CTTCAATGTGTAAAGTGGCAGG -3'
(R):5'- AATTGACACGGCCGGATTGTG -3'
Sequencing Primer
(F):5'- GCCCACTGAACTCTGGCTG -3'
(R):5'- ACGGCCGGATTGTGAACTG -3'
|
Posted On |
2022-04-18 |