Incidental Mutation 'R1529:Atg2b'
| ID |
166482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R1529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105627392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 532
(V532I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: V532I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: V532I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
11 |
127 |
3.5e-19 |
PFAM |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
1722 |
1733 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1976 |
2071 |
1.4e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221568
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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 required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,768,533 (GRCm39) |
I21T |
probably benign |
Het |
| Adam11 |
T |
C |
11: 102,665,939 (GRCm39) |
|
probably null |
Het |
| Amd1 |
A |
T |
10: 40,166,501 (GRCm39) |
M194K |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,989,547 (GRCm39) |
F793C |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,488,970 (GRCm39) |
R1292* |
probably null |
Het |
| Arhgef5 |
C |
A |
6: 43,256,449 (GRCm39) |
H1186N |
probably damaging |
Het |
| Atad1 |
A |
G |
19: 32,684,321 (GRCm39) |
F26L |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,645,726 (GRCm39) |
F943L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,740 (GRCm39) |
L21F |
possibly damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,592,241 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cimip3 |
G |
A |
17: 47,724,815 (GRCm39) |
S102L |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,320 (GRCm39) |
D202E |
probably benign |
Het |
| Crim1 |
A |
C |
17: 78,675,383 (GRCm39) |
K864T |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,267 (GRCm39) |
R765G |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,028,499 (GRCm39) |
R802* |
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,216,441 (GRCm39) |
F1152L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,415,080 (GRCm39) |
L659P |
probably damaging |
Het |
| Dzank1 |
A |
G |
2: 144,324,108 (GRCm39) |
F577L |
probably benign |
Het |
| Eci3 |
T |
C |
13: 35,140,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,832,701 (GRCm39) |
|
probably null |
Het |
| Ep400 |
C |
A |
5: 110,887,311 (GRCm39) |
V591L |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,420,170 (GRCm39) |
N569S |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,426,631 (GRCm39) |
V229E |
probably damaging |
Het |
| Gna15 |
T |
A |
10: 81,345,176 (GRCm39) |
I230F |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,031,250 (GRCm39) |
V281A |
probably benign |
Het |
| Hebp2 |
G |
A |
10: 18,421,509 (GRCm39) |
A12V |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,000,989 (GRCm39) |
D1254G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,776,564 (GRCm39) |
S459A |
probably benign |
Het |
| Hnrnpl |
T |
A |
7: 28,513,348 (GRCm39) |
N149K |
possibly damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,635 (GRCm39) |
S115C |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,578,766 (GRCm39) |
D261E |
probably benign |
Het |
| Ifnab |
T |
C |
4: 88,609,292 (GRCm39) |
D58G |
possibly damaging |
Het |
| Itfg1 |
T |
C |
8: 86,537,243 (GRCm39) |
T195A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,324,459 (GRCm39) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,213,334 (GRCm39) |
D254G |
probably benign |
Het |
| Kl |
C |
A |
5: 150,912,406 (GRCm39) |
D718E |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,790,784 (GRCm39) |
I154M |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,353,526 (GRCm39) |
D578G |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,372,123 (GRCm39) |
Y159* |
probably null |
Het |
| Mab21l1 |
C |
A |
3: 55,691,254 (GRCm39) |
Y280* |
probably null |
Het |
| Maf |
A |
T |
8: 116,419,909 (GRCm39) |
S378T |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,287,716 (GRCm39) |
V59I |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,902,895 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
A |
T |
7: 18,691,479 (GRCm39) |
N139Y |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 91,013,358 (GRCm39) |
D434Y |
probably damaging |
Het |
| Nvl |
C |
T |
1: 180,936,724 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or51g2 |
A |
G |
7: 102,623,086 (GRCm39) |
Y38H |
probably damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,696 (GRCm39) |
T272A |
probably benign |
Het |
| Or8k18 |
A |
T |
2: 86,085,585 (GRCm39) |
Y151N |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,677 (GRCm39) |
V214A |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,094,871 (GRCm39) |
Y255C |
probably damaging |
Het |
| Pcyt1a |
G |
A |
16: 32,270,611 (GRCm39) |
E27K |
possibly damaging |
Het |
| Pex6 |
A |
T |
17: 47,024,990 (GRCm39) |
T348S |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,681,597 (GRCm39) |
I251T |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,755 (GRCm39) |
I490T |
probably damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,672,534 (GRCm39) |
L56Q |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,760,971 (GRCm39) |
T434A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,711,998 (GRCm39) |
N1632S |
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,711 (GRCm39) |
V151M |
probably damaging |
Het |
| Rpain |
G |
C |
11: 70,865,741 (GRCm39) |
E169Q |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,227 (GRCm39) |
V124D |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc12a1 |
C |
T |
2: 125,032,215 (GRCm39) |
T622I |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,029,428 (GRCm39) |
V67D |
probably damaging |
Het |
| Slc41a3 |
G |
T |
6: 90,621,198 (GRCm39) |
V387L |
probably damaging |
Het |
| Slitrk1 |
T |
A |
14: 109,150,709 (GRCm39) |
M1L |
probably benign |
Het |
| Stat4 |
T |
C |
1: 52,050,952 (GRCm39) |
W4R |
probably damaging |
Het |
| Tas2r126 |
A |
G |
6: 42,411,502 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,953 (GRCm39) |
C64R |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,440 (GRCm39) |
S505G |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,566,978 (GRCm39) |
V1506A |
probably benign |
Het |
| Tmem9b |
A |
C |
7: 109,336,156 (GRCm39) |
S163A |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,139,519 (GRCm39) |
S669L |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,560,220 (GRCm39) |
I641K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,565,711 (GRCm39) |
A28214T |
probably damaging |
Het |
| Utp11 |
G |
A |
4: 124,577,032 (GRCm39) |
A113V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,902 (GRCm39) |
I66N |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,206 (GRCm39) |
E572G |
probably damaging |
Het |
|
| Other mutations in Atg2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Atg2b
|
APN |
12 |
105,611,175 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01326:Atg2b
|
APN |
12 |
105,588,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Atg2b
|
APN |
12 |
105,614,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02260:Atg2b
|
APN |
12 |
105,602,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL02376:Atg2b
|
APN |
12 |
105,611,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atg2b
|
APN |
12 |
105,614,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02434:Atg2b
|
APN |
12 |
105,605,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02534:Atg2b
|
APN |
12 |
105,609,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Atg2b
|
APN |
12 |
105,592,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03173:Atg2b
|
APN |
12 |
105,624,553 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6669_atg2b_067
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
rail
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
Sora
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0511:Atg2b
|
UTSW |
12 |
105,583,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Atg2b
|
UTSW |
12 |
105,641,229 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0786:Atg2b
|
UTSW |
12 |
105,602,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1029:Atg2b
|
UTSW |
12 |
105,602,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1563:Atg2b
|
UTSW |
12 |
105,589,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1746:Atg2b
|
UTSW |
12 |
105,635,588 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1887:Atg2b
|
UTSW |
12 |
105,620,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1956:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Atg2b
|
UTSW |
12 |
105,604,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2877:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R2878:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R4798:Atg2b
|
UTSW |
12 |
105,618,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4836:Atg2b
|
UTSW |
12 |
105,613,073 (GRCm39) |
missense |
probably benign |
|
|
R5007:Atg2b
|
UTSW |
12 |
105,610,135 (GRCm39) |
splice site |
probably null |
|
|
R5042:Atg2b
|
UTSW |
12 |
105,587,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5134:Atg2b
|
UTSW |
12 |
105,641,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5212:Atg2b
|
UTSW |
12 |
105,613,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Atg2b
|
UTSW |
12 |
105,602,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Atg2b
|
UTSW |
12 |
105,624,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5342:Atg2b
|
UTSW |
12 |
105,625,175 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5583:Atg2b
|
UTSW |
12 |
105,615,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5656:Atg2b
|
UTSW |
12 |
105,587,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Atg2b
|
UTSW |
12 |
105,615,383 (GRCm39) |
nonsense |
probably null |
|
|
R5903:Atg2b
|
UTSW |
12 |
105,605,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6018:Atg2b
|
UTSW |
12 |
105,627,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6153:Atg2b
|
UTSW |
12 |
105,589,741 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6326:Atg2b
|
UTSW |
12 |
105,627,351 (GRCm39) |
nonsense |
probably null |
|
|
R6584:Atg2b
|
UTSW |
12 |
105,624,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Atg2b
|
UTSW |
12 |
105,611,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Atg2b
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6847:Atg2b
|
UTSW |
12 |
105,602,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Atg2b
|
UTSW |
12 |
105,620,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7193:Atg2b
|
UTSW |
12 |
105,630,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Atg2b
|
UTSW |
12 |
105,589,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Atg2b
|
UTSW |
12 |
105,630,957 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7432:Atg2b
|
UTSW |
12 |
105,627,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7630:Atg2b
|
UTSW |
12 |
105,613,213 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7634:Atg2b
|
UTSW |
12 |
105,618,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Atg2b
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7653:Atg2b
|
UTSW |
12 |
105,602,731 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8157:Atg2b
|
UTSW |
12 |
105,629,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Atg2b
|
UTSW |
12 |
105,618,475 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8469:Atg2b
|
UTSW |
12 |
105,604,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Atg2b
|
UTSW |
12 |
105,635,687 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8784:Atg2b
|
UTSW |
12 |
105,605,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Atg2b
|
UTSW |
12 |
105,602,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Atg2b
|
UTSW |
12 |
105,583,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Atg2b
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Atg2b
|
UTSW |
12 |
105,618,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Atg2b
|
UTSW |
12 |
105,636,980 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9402:Atg2b
|
UTSW |
12 |
105,614,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9492:Atg2b
|
UTSW |
12 |
105,624,549 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Atg2b
|
UTSW |
12 |
105,611,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Atg2b
|
UTSW |
12 |
105,605,561 (GRCm39) |
missense |
probably benign |
|
|
R9746:Atg2b
|
UTSW |
12 |
105,630,197 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0018:Atg2b
|
UTSW |
12 |
105,632,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0066:Atg2b
|
UTSW |
12 |
105,613,044 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Atg2b
|
UTSW |
12 |
105,602,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGCAAAAGCGCGTATTTGG -3'
(R):5'- AGTGAGGTGGACTCTCGTACTTCAG -3'
Sequencing Primer
(F):5'- CAAAAGCGCGTATTTGGTTCTTTAC -3'
(R):5'- GGACTCTCGTACTTCAGGTACAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation