Incidental Mutation 'R8786:Atg2a'
ID |
670674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2a
|
Ensembl Gene |
ENSMUSG00000024773 |
Gene Name |
autophagy related 2A |
Synonyms |
1810013C15Rik |
MMRRC Submission |
068632-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
R8786 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 6294460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 59
(V59L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
AlphaFold |
Q6P4T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045351
AA Change: V59L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000046412 Gene: ENSMUSG00000024773 AA Change: V59L
Domain | Start | End | E-Value | Type |
Pfam:Chorein_N
|
14 |
131 |
7.6e-20 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
low complexity region
|
501 |
512 |
N/A |
INTRINSIC |
low complexity region
|
852 |
863 |
N/A |
INTRINSIC |
low complexity region
|
1069 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1446 |
N/A |
INTRINSIC |
low complexity region
|
1761 |
1773 |
N/A |
INTRINSIC |
Pfam:ATG_C
|
1814 |
1908 |
2.2e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145600
|
SMART Domains |
Protein: ENSMUSP00000114998 Gene: ENSMUSG00000024773
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
low complexity region
|
654 |
665 |
N/A |
INTRINSIC |
low complexity region
|
871 |
883 |
N/A |
INTRINSIC |
low complexity region
|
1233 |
1250 |
N/A |
INTRINSIC |
low complexity region
|
1565 |
1577 |
N/A |
INTRINSIC |
Pfam:ATG_C
|
1618 |
1712 |
3.6e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
A |
T |
3: 95,592,784 (GRCm39) |
M1K |
probably null |
Het |
Atxn7 |
C |
A |
14: 14,103,316 (GRCm38) |
T888K |
possibly damaging |
Het |
Btbd9 |
T |
C |
17: 30,749,144 (GRCm39) |
R57G |
probably damaging |
Het |
Catspere2 |
T |
A |
1: 177,843,362 (GRCm39) |
|
probably benign |
Het |
Catspere2 |
G |
A |
1: 177,843,555 (GRCm39) |
|
probably benign |
Het |
Ccdc9b |
C |
A |
2: 118,587,732 (GRCm39) |
S534I |
unknown |
Het |
Crp |
T |
C |
1: 172,526,293 (GRCm39) |
V126A |
probably benign |
Het |
Csf1r |
A |
T |
18: 61,247,942 (GRCm39) |
T337S |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,296,439 (GRCm39) |
N299S |
probably damaging |
Het |
Dcaf17 |
T |
C |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,665,830 (GRCm39) |
D985G |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,716,190 (GRCm39) |
T138A |
probably benign |
Het |
Emid1 |
T |
C |
11: 5,081,517 (GRCm39) |
D212G |
probably benign |
Het |
Epyc |
G |
A |
10: 97,511,525 (GRCm39) |
D173N |
probably damaging |
Het |
Fanci |
A |
G |
7: 79,052,298 (GRCm39) |
D162G |
probably benign |
Het |
Firrm |
A |
T |
1: 163,792,040 (GRCm39) |
L626Q |
probably damaging |
Het |
Fry |
T |
C |
5: 150,317,501 (GRCm39) |
V827A |
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,505 (GRCm39) |
E226G |
probably benign |
Het |
Gopc |
G |
A |
10: 52,230,750 (GRCm39) |
R183* |
probably null |
Het |
Grik4 |
C |
T |
9: 42,453,130 (GRCm39) |
G752S |
probably damaging |
Het |
H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
H2-Q1 |
T |
A |
17: 35,539,869 (GRCm39) |
V46D |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,219,862 (GRCm39) |
N126S |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,238,063 (GRCm39) |
T706I |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,669,864 (GRCm39) |
D117G |
probably damaging |
Het |
Kmt5a |
C |
T |
5: 124,584,074 (GRCm39) |
A18V |
probably benign |
Het |
Krtap29-1 |
C |
T |
11: 99,869,465 (GRCm39) |
G139R |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,838,100 (GRCm39) |
Y872C |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,752 (GRCm39) |
M260K |
probably benign |
Het |
Map2 |
G |
A |
1: 66,472,755 (GRCm39) |
|
probably benign |
Het |
Mrpl51 |
C |
T |
6: 125,169,340 (GRCm39) |
A8V |
probably benign |
Het |
Ndufs3 |
T |
C |
2: 90,732,778 (GRCm39) |
T103A |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,647,616 (GRCm39) |
L449R |
probably benign |
Het |
Or10g3b |
C |
T |
14: 52,587,021 (GRCm39) |
A161T |
possibly damaging |
Het |
Pan3 |
C |
T |
5: 147,424,951 (GRCm39) |
P295S |
possibly damaging |
Het |
Pds5b |
T |
C |
5: 150,704,134 (GRCm39) |
S846P |
probably damaging |
Het |
Phf2 |
A |
T |
13: 48,967,219 (GRCm39) |
M712K |
unknown |
Het |
Phlda2 |
A |
T |
7: 143,056,211 (GRCm39) |
V6E |
probably benign |
Het |
Pkdrej |
C |
A |
15: 85,704,044 (GRCm39) |
A631S |
probably benign |
Het |
Plcd3 |
G |
T |
11: 102,962,569 (GRCm39) |
N627K |
probably damaging |
Het |
Prpf6 |
T |
C |
2: 181,262,415 (GRCm39) |
I138T |
possibly damaging |
Het |
Psd4 |
G |
A |
2: 24,295,444 (GRCm39) |
S866N |
probably benign |
Het |
Ptprb |
A |
C |
10: 116,155,306 (GRCm39) |
T400P |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,570,677 (GRCm39) |
|
probably null |
Het |
Sbf2 |
A |
G |
7: 110,063,793 (GRCm39) |
|
probably null |
Het |
Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
Setd4 |
C |
T |
16: 93,390,162 (GRCm39) |
R89Q |
probably benign |
Het |
Sgpp1 |
A |
G |
12: 75,763,152 (GRCm39) |
I343T |
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,260,658 (GRCm39) |
D186G |
probably benign |
Het |
Slc12a4 |
A |
T |
8: 106,680,549 (GRCm39) |
I191N |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,232,549 (GRCm39) |
D251V |
probably benign |
Het |
Slc6a5 |
A |
T |
7: 49,561,843 (GRCm39) |
D125V |
possibly damaging |
Het |
Slf1 |
T |
A |
13: 77,274,806 (GRCm39) |
I16F |
possibly damaging |
Het |
Sncaip |
T |
C |
18: 53,031,334 (GRCm39) |
V521A |
probably damaging |
Het |
Spmip10 |
T |
C |
18: 56,727,568 (GRCm39) |
F89L |
probably damaging |
Het |
Stx19 |
T |
C |
16: 62,642,775 (GRCm39) |
L197P |
probably damaging |
Het |
Sucla2 |
A |
G |
14: 73,797,905 (GRCm39) |
N39D |
probably benign |
Het |
Sult1d1 |
T |
A |
5: 87,712,575 (GRCm39) |
T90S |
probably benign |
Het |
Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
Tas2r138 |
A |
G |
6: 40,589,611 (GRCm39) |
S212P |
probably damaging |
Het |
Tdrd3 |
T |
A |
14: 87,709,637 (GRCm39) |
C106* |
probably null |
Het |
Tlk2 |
C |
T |
11: 105,172,059 (GRCm39) |
A743V |
unknown |
Het |
Tlr3 |
T |
C |
8: 45,851,286 (GRCm39) |
D537G |
possibly damaging |
Het |
Tmc1 |
A |
G |
19: 20,803,953 (GRCm39) |
Y375H |
probably damaging |
Het |
Tsen54 |
T |
A |
11: 115,711,498 (GRCm39) |
M305K |
probably damaging |
Het |
Umod |
C |
T |
7: 119,076,581 (GRCm39) |
V62M |
possibly damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,010 (GRCm39) |
T201A |
probably benign |
Het |
Vmn1r103 |
T |
C |
7: 20,243,676 (GRCm39) |
T262A |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,742,838 (GRCm39) |
V404A |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,449,393 (GRCm39) |
F282L |
probably damaging |
Het |
Wdr64 |
A |
T |
1: 175,636,327 (GRCm39) |
K982* |
probably null |
Het |
Xpo6 |
A |
T |
7: 125,712,127 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Atg2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Atg2a
|
APN |
19 |
6,304,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01612:Atg2a
|
APN |
19 |
6,302,514 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02105:Atg2a
|
APN |
19 |
6,300,433 (GRCm39) |
splice site |
probably benign |
|
IGL02151:Atg2a
|
APN |
19 |
6,305,787 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02228:Atg2a
|
APN |
19 |
6,296,830 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02329:Atg2a
|
APN |
19 |
6,299,959 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02408:Atg2a
|
APN |
19 |
6,291,858 (GRCm39) |
nonsense |
probably null |
|
IGL02538:Atg2a
|
APN |
19 |
6,307,658 (GRCm39) |
missense |
probably benign |
|
IGL02830:Atg2a
|
APN |
19 |
6,297,711 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03349:Atg2a
|
APN |
19 |
6,308,054 (GRCm39) |
missense |
possibly damaging |
0.77 |
PIT4515001:Atg2a
|
UTSW |
19 |
6,303,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R0099:Atg2a
|
UTSW |
19 |
6,302,819 (GRCm39) |
missense |
probably damaging |
0.97 |
R0212:Atg2a
|
UTSW |
19 |
6,296,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:Atg2a
|
UTSW |
19 |
6,297,713 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0398:Atg2a
|
UTSW |
19 |
6,296,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Atg2a
|
UTSW |
19 |
6,306,632 (GRCm39) |
missense |
probably benign |
0.01 |
R0483:Atg2a
|
UTSW |
19 |
6,306,631 (GRCm39) |
missense |
probably damaging |
0.98 |
R0494:Atg2a
|
UTSW |
19 |
6,303,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Atg2a
|
UTSW |
19 |
6,302,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0590:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
R0592:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
R0593:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
R0630:Atg2a
|
UTSW |
19 |
6,294,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R1306:Atg2a
|
UTSW |
19 |
6,303,051 (GRCm39) |
missense |
probably benign |
0.31 |
R1437:Atg2a
|
UTSW |
19 |
6,300,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Atg2a
|
UTSW |
19 |
6,296,801 (GRCm39) |
splice site |
probably null |
|
R1774:Atg2a
|
UTSW |
19 |
6,300,628 (GRCm39) |
missense |
probably benign |
0.01 |
R1781:Atg2a
|
UTSW |
19 |
6,306,243 (GRCm39) |
missense |
probably damaging |
0.96 |
R1854:Atg2a
|
UTSW |
19 |
6,302,461 (GRCm39) |
missense |
probably benign |
0.11 |
R1884:Atg2a
|
UTSW |
19 |
6,304,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Atg2a
|
UTSW |
19 |
6,295,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1935:Atg2a
|
UTSW |
19 |
6,302,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Atg2a
|
UTSW |
19 |
6,300,299 (GRCm39) |
critical splice donor site |
probably null |
|
R2071:Atg2a
|
UTSW |
19 |
6,307,488 (GRCm39) |
missense |
probably benign |
0.00 |
R2513:Atg2a
|
UTSW |
19 |
6,308,076 (GRCm39) |
critical splice donor site |
probably null |
|
R3808:Atg2a
|
UTSW |
19 |
6,302,846 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4065:Atg2a
|
UTSW |
19 |
6,308,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R4109:Atg2a
|
UTSW |
19 |
6,308,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4352:Atg2a
|
UTSW |
19 |
6,307,487 (GRCm39) |
missense |
probably benign |
0.04 |
R4440:Atg2a
|
UTSW |
19 |
6,305,859 (GRCm39) |
critical splice donor site |
probably null |
|
R4472:Atg2a
|
UTSW |
19 |
6,308,985 (GRCm39) |
missense |
probably damaging |
0.98 |
R4669:Atg2a
|
UTSW |
19 |
6,309,017 (GRCm39) |
critical splice donor site |
probably null |
|
R4878:Atg2a
|
UTSW |
19 |
6,300,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Atg2a
|
UTSW |
19 |
6,307,563 (GRCm39) |
missense |
probably damaging |
0.96 |
R5237:Atg2a
|
UTSW |
19 |
6,296,844 (GRCm39) |
missense |
probably benign |
|
R5350:Atg2a
|
UTSW |
19 |
6,301,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R5507:Atg2a
|
UTSW |
19 |
6,295,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5732:Atg2a
|
UTSW |
19 |
6,307,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R5784:Atg2a
|
UTSW |
19 |
6,311,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R5960:Atg2a
|
UTSW |
19 |
6,304,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Atg2a
|
UTSW |
19 |
6,304,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Atg2a
|
UTSW |
19 |
6,291,759 (GRCm39) |
unclassified |
probably benign |
|
R6572:Atg2a
|
UTSW |
19 |
6,304,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R6878:Atg2a
|
UTSW |
19 |
6,300,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R6879:Atg2a
|
UTSW |
19 |
6,301,882 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6983:Atg2a
|
UTSW |
19 |
6,310,070 (GRCm39) |
missense |
probably damaging |
0.99 |
R7024:Atg2a
|
UTSW |
19 |
6,300,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7217:Atg2a
|
UTSW |
19 |
6,303,471 (GRCm39) |
critical splice donor site |
probably null |
|
R7384:Atg2a
|
UTSW |
19 |
6,311,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Atg2a
|
UTSW |
19 |
6,305,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7425:Atg2a
|
UTSW |
19 |
6,305,682 (GRCm39) |
missense |
probably benign |
0.02 |
R7512:Atg2a
|
UTSW |
19 |
6,310,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:Atg2a
|
UTSW |
19 |
6,301,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R7893:Atg2a
|
UTSW |
19 |
6,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8062:Atg2a
|
UTSW |
19 |
6,302,609 (GRCm39) |
critical splice donor site |
probably null |
|
R8258:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R8259:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R8350:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
R8412:Atg2a
|
UTSW |
19 |
6,294,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R8450:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
R8474:Atg2a
|
UTSW |
19 |
6,301,433 (GRCm39) |
critical splice donor site |
probably null |
|
R8501:Atg2a
|
UTSW |
19 |
6,304,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Atg2a
|
UTSW |
19 |
6,306,674 (GRCm39) |
missense |
probably benign |
0.00 |
R8810:Atg2a
|
UTSW |
19 |
6,300,651 (GRCm39) |
missense |
probably benign |
0.01 |
R8898:Atg2a
|
UTSW |
19 |
6,306,721 (GRCm39) |
splice site |
probably benign |
|
R9016:Atg2a
|
UTSW |
19 |
6,300,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9111:Atg2a
|
UTSW |
19 |
6,311,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R9184:Atg2a
|
UTSW |
19 |
6,291,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R9496:Atg2a
|
UTSW |
19 |
6,310,022 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9570:Atg2a
|
UTSW |
19 |
6,305,749 (GRCm39) |
missense |
probably benign |
0.03 |
R9642:Atg2a
|
UTSW |
19 |
6,300,198 (GRCm39) |
nonsense |
probably null |
|
X0065:Atg2a
|
UTSW |
19 |
6,308,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTTCTTAGCTGGCCCAAAG -3'
(R):5'- ATAAAAGGGCCCCGACTCTC -3'
Sequencing Primer
(F):5'- CAAAGGGCTGAGCACTGTC -3'
(R):5'- AGCAACTGCCTCCCCTGTG -3'
|
Posted On |
2021-04-30 |