Incidental Mutation 'R0066:Atg2b'
ID |
18048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2b
|
Ensembl Gene |
ENSMUSG00000041341 |
Gene Name |
autophagy related 2B |
Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
MMRRC Submission |
038357-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R0066 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105614708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1074
(D1074E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
AlphaFold |
Q80XK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: D1074E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037441 Gene: ENSMUSG00000041341 AA Change: D1074E
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: ENSMUST00000157229
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221015
|
Meta Mutation Damage Score |
0.0678 |
Coding Region Coverage |
- 1x: 89.0%
- 3x: 85.6%
- 10x: 75.4%
- 20x: 57.8%
|
Validation Efficiency |
94% (112/119) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
A |
G |
9: 22,119,177 (GRCm39) |
|
noncoding transcript |
Het |
Aco2 |
T |
C |
15: 81,787,666 (GRCm39) |
|
probably benign |
Het |
Arsa |
T |
A |
15: 89,358,539 (GRCm39) |
M288L |
possibly damaging |
Het |
Baiap2l1 |
A |
T |
5: 144,221,372 (GRCm39) |
I174N |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,952,962 (GRCm39) |
V199A |
possibly damaging |
Het |
Btn2a2 |
T |
A |
13: 23,662,655 (GRCm39) |
I432L |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,395,850 (GRCm39) |
I778V |
probably benign |
Het |
Cd200r2 |
G |
A |
16: 44,730,037 (GRCm39) |
V194I |
possibly damaging |
Het |
Cep350 |
A |
C |
1: 155,786,964 (GRCm39) |
L1421R |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,579,412 (GRCm39) |
C1938S |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,795,418 (GRCm39) |
D1051V |
probably damaging |
Het |
Cstf1 |
T |
A |
2: 172,214,976 (GRCm39) |
N32K |
probably benign |
Het |
Ctrb1 |
G |
A |
8: 112,413,269 (GRCm39) |
R248* |
probably null |
Het |
Cyp2d11 |
T |
A |
15: 82,275,958 (GRCm39) |
M208L |
probably benign |
Het |
Dbt |
A |
G |
3: 116,337,478 (GRCm39) |
Q334R |
probably benign |
Het |
Dcaf12 |
A |
G |
4: 41,298,338 (GRCm39) |
V270A |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,226,447 (GRCm39) |
N361I |
probably benign |
Het |
Dnm3 |
A |
G |
1: 162,234,930 (GRCm39) |
V70A |
probably damaging |
Het |
Dpy19l2 |
G |
A |
9: 24,557,679 (GRCm39) |
|
probably benign |
Het |
Dst |
C |
A |
1: 34,228,634 (GRCm39) |
H2254N |
possibly damaging |
Het |
Eif2b1 |
T |
G |
5: 124,711,858 (GRCm39) |
|
probably null |
Het |
Epm2aip1 |
A |
G |
9: 111,101,531 (GRCm39) |
N168S |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,927,631 (GRCm39) |
Y691C |
possibly damaging |
Het |
Fndc8 |
A |
T |
11: 82,788,398 (GRCm39) |
D76V |
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,477,963 (GRCm39) |
L48P |
probably damaging |
Het |
Gimap6 |
T |
A |
6: 48,679,404 (GRCm39) |
I211F |
probably damaging |
Het |
Gm15130 |
A |
G |
2: 110,969,284 (GRCm39) |
|
probably benign |
Het |
Gm19618 |
A |
T |
6: 87,691,227 (GRCm39) |
|
|
Het |
Gpatch1 |
G |
A |
7: 34,986,652 (GRCm39) |
S768L |
probably damaging |
Het |
Grb14 |
T |
G |
2: 64,768,836 (GRCm39) |
|
probably null |
Het |
Hnrnpd |
T |
C |
5: 100,112,560 (GRCm39) |
E222G |
probably damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,989 (GRCm39) |
S40P |
possibly damaging |
Het |
Kcnh4 |
T |
C |
11: 100,648,626 (GRCm39) |
H26R |
probably benign |
Het |
Kctd2 |
T |
G |
11: 115,320,343 (GRCm39) |
|
probably benign |
Het |
Macf1 |
G |
A |
4: 123,325,943 (GRCm39) |
Q3066* |
probably null |
Het |
Mfn2 |
G |
A |
4: 147,969,902 (GRCm39) |
|
probably benign |
Het |
Mmab |
T |
C |
5: 114,574,526 (GRCm39) |
|
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,266,011 (GRCm39) |
S310P |
probably benign |
Het |
Mrps21 |
T |
C |
3: 95,770,197 (GRCm39) |
Y44C |
probably null |
Het |
Myh10 |
T |
A |
11: 68,590,317 (GRCm39) |
F121Y |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,820,677 (GRCm39) |
D840G |
probably damaging |
Het |
Nol6 |
G |
T |
4: 41,119,572 (GRCm39) |
|
probably benign |
Het |
Ntsr2 |
T |
C |
12: 16,704,120 (GRCm39) |
I207T |
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
Or11j4 |
T |
A |
14: 50,630,659 (GRCm39) |
F149I |
probably benign |
Het |
Pkd1l3 |
G |
T |
8: 110,347,103 (GRCm39) |
G159C |
unknown |
Het |
Plcb4 |
T |
C |
2: 135,803,689 (GRCm39) |
S521P |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,752,634 (GRCm39) |
I993F |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,756,743 (GRCm39) |
S640G |
probably damaging |
Het |
Ptprn2 |
A |
C |
12: 117,240,222 (GRCm39) |
N993T |
probably benign |
Het |
Reck |
A |
G |
4: 43,930,936 (GRCm39) |
N646D |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,093,736 (GRCm39) |
|
probably benign |
Het |
Ripk2 |
G |
A |
4: 16,123,868 (GRCm39) |
Q436* |
probably null |
Het |
Ryr1 |
C |
T |
7: 28,704,992 (GRCm39) |
|
probably benign |
Het |
Sema6b |
A |
G |
17: 56,435,271 (GRCm39) |
V324A |
possibly damaging |
Het |
Sik2 |
C |
A |
9: 50,909,833 (GRCm39) |
M73I |
probably benign |
Het |
Slc39a6 |
T |
C |
18: 24,732,326 (GRCm39) |
K321E |
probably damaging |
Het |
Slc7a4 |
C |
A |
16: 17,391,875 (GRCm39) |
V520F |
probably benign |
Het |
Sptan1 |
C |
A |
2: 29,893,679 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,879,027 (GRCm39) |
|
probably benign |
Het |
Tbc1d17 |
C |
T |
7: 44,493,495 (GRCm39) |
|
probably benign |
Het |
Tbcd |
T |
A |
11: 121,394,590 (GRCm39) |
L49* |
probably null |
Het |
Tulp4 |
A |
T |
17: 6,252,008 (GRCm39) |
N60I |
probably damaging |
Het |
Ubqlnl |
A |
T |
7: 103,798,145 (GRCm39) |
W451R |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,746,956 (GRCm39) |
C363* |
probably null |
Het |
Utp4 |
A |
G |
8: 107,649,530 (GRCm39) |
T660A |
possibly damaging |
Het |
Vmn1r194 |
A |
T |
13: 22,428,641 (GRCm39) |
Y86F |
probably benign |
Het |
Vmn1r195 |
A |
T |
13: 22,463,409 (GRCm39) |
H293L |
possibly damaging |
Het |
Vmn1r231 |
T |
C |
17: 21,109,998 (GRCm39) |
R306G |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,296,273 (GRCm39) |
E515G |
possibly damaging |
Het |
Wdr18 |
C |
A |
10: 79,796,937 (GRCm39) |
Y104* |
probably null |
Het |
Xab2 |
A |
T |
8: 3,663,880 (GRCm39) |
N346K |
probably damaging |
Het |
Zdhhc12 |
C |
T |
2: 29,982,547 (GRCm39) |
R50H |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,043,064 (GRCm39) |
S379P |
probably benign |
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 |
|
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 |
R1529:Atg2b
|
UTSW |
12 |
105,627,392 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2013-03-25 |